BACKGROUND Warts are common in recipients of kidney transplantation(KT).Resistant warts which are not amenable to conventional therapies may lead to significant morbidity.Limited data exists on safety and efficacy of ...BACKGROUND Warts are common in recipients of kidney transplantation(KT).Resistant warts which are not amenable to conventional therapies may lead to significant morbidity.Limited data exists on safety and efficacy of local immunotherapy among immunocompromised KT recipients.CASE SUMMARY We report a seven-year-old child who presented with recalcitrant plantar periungual warts in the early KT period.Immunosuppression consisted of tacrolimus,mycophenolate and steroid.Due to failure of conventional anti-wart therapies,he was treated with two sessions of intralesional(IL)candida immunotherapy along with liquid nitrogen cryotherapy leading to complete resolution of the warts.Interestingly,de novo BK viremia was seen about three weeks following the last candida immunotherapy.This required reduction of immunosuppression and other anti-BK viral therapies.Allograft function remained stable but there were donor specific antibodies detected.There also was elevated level of plasma donor derived cell-free DNA.A pneumocystis jirovecii pneumonia occurred ten months following completion of immunotherapy that was successfully treated with trimethoprim-sulfamethoxazole.During this ten-month follow-up period,there have been no recurrence of warts,and transplant kidney function has remained stable.CONCLUSION Stimulation of cell-mediated immunity against the human papilloma virus induced by the IL candida immunotherapy is thought to be a cause for wart resolution.With this therapy,whether it is necessary to augment the immunosuppression to prevent rejection is unclear as that may come with a risk of infectious complications.Larger,prospective studies in pediatric KT recipients are needed to explore these important issues.展开更多
Objective: To analyze the epidemiological characteristics of growth, as well as factors associated with growth retardation in children with primary nephrotic syndrome (PNS), and to investigate the effect of glucocorti...Objective: To analyze the epidemiological characteristics of growth, as well as factors associated with growth retardation in children with primary nephrotic syndrome (PNS), and to investigate the effect of glucocorticoid (GC) use duration on growth retardation in these children. Methods: Clinical and laboratory data of 353 PNS children treated at our hospital from July 2014 to June 2015 were collected through the medical record management system. Height, weight, and GC usage were recorded. Follow-up assessments were conducted in August 2022 for the original group, recording height, weight, and GC usage. Height and weight were evaluated using standard deviation scores (SDS). Categorical data were analyzed using chi-square test while continuous measurement data were analyzed using t-test or rank-sum test. Linear regression was used to assess the association between two single independent variables, and logistic regression analysis was used to screen for risk factors related to growth retardation in children with PNS. Results: Among the 353 PNS children enrolled in this study, male-to-female ratio of 2.64:1 (256 males vs 97 females). A total of 119 children exhibited growth retardation, incidence rate of 33.71%. The duration of GC usage among those with growth retardation was significantly longer compared to those without it (762.81 ± 934.50 days vs 263.77 ± 420.49 days;p Conclusion: PNS children treated with GC have a high incidence of growth retardation, and a high proportion of short stature in adulthood, especially in children with growth retardation in childhood, most of them have short stature after grown up. Time of GC usage is a risk factor for growth retardation in children with PNS.展开更多
Racial, ethnic, and socioeconomic disparities present daunting hurdles that prevent equitable health outcomes for patients with end-stage kidney disease (ESKD) on hemodialysis. Additional resources, such as the Novel ...Racial, ethnic, and socioeconomic disparities present daunting hurdles that prevent equitable health outcomes for patients with end-stage kidney disease (ESKD) on hemodialysis. Additional resources, such as the Novel Intervention in Children’s Health (NICH) at Lucille Packard Children’s Hospital Stanford, provide individualized support to best assist families by assessing barriers to care with the goal of improving health outcomes. In this retrospective cohort study, we reviewed patients with ESKD on hemodialysis involved in NICH to explore if NICH serves as a liaison between the patients and multidisciplinary medical team and to explore if NICH helps patients better manage the challenges of end-stage kidney disease. Through the electronic medical record system, EPIC, we reviewed the patients’ surveys to identify barriers to care, which included school and life engagement difficulty, lack of mental health resources, food and transportation insecurity, and cultural/language barriers. We also tracked the number of hospitalizations and ED visits before and during the patients’ enrollment in NICH. We discovered that through NICH, the aforementioned barriers to care were eliminated, the number of hospitalizations and emergency department visits was reduced, and all patients transitioned from inactive to active on the transplant list. NICH successfully improved the health outcomes of these patients and empowered patients to be more engaged in their care.展开更多
BACKGROUND Myocarditis is an important cause of morbidity and mortality in children, leading to long-term sequelae including chronic congestive heart failure, dilated cardiomyopathy, heart transplantation, and death. ...BACKGROUND Myocarditis is an important cause of morbidity and mortality in children, leading to long-term sequelae including chronic congestive heart failure, dilated cardiomyopathy, heart transplantation, and death. The initial diagnosis of myocarditis is usually based on clinical presentation, but this widely ranges from the severe sudden onset of a cardiogenic shock to asymptomatic patients. Early recognition is essential in order to monitor and start supportive treatment prior to the development of severe adverse events. Of note, many cases of fulminant myocarditis are usually misdiagnosed as otherwise minor conditions during the weeks before the unexpected deterioration.AIM To provide diagnostic clues to make an early recognition of pediatric myocarditis.To investigate early predictors for poor outcomes.METHODS We conducted a retrospective cross-sectional single-center study from January 2008 to November 2017 at the Pediatric Department of our institution, including children < 18-years-old diagnosed with myocarditis. Poor outcome was defined as the occurrence of any of the following facts: death, heart transplant, persistent left ventricular systolic dysfunction or dilation at hospital discharge(early poor outcome), or after 1 year of follow-up(late poor outcome). We analyzed different clinical features and diagnostic test findings in order to provide diagnostic clues for myocarditis in children. Multivariable stepwise logistic regression analysis was performed using all variables that had been selected by univariate analysis to determine independent factors that predicted a poor early or late outcome in our study population.RESULTS A total of 42 patients [69% male; median age of 8(1.5-12) years] met study inclusion criteria. Chest pain(40%) was the most common specific cardiac symptom. Respiratory tract symptoms(cough, apnea, rhinorrhea)(38%),shortness of breath(35%), gastrointestinal tract symptoms(vomiting, abdominal pain, diarrhea)(33%), and fever(31%) were the most common non-cardiac initial complaints. Tachycardia(57%) and tachypnea(52%) were the most common signs on the initial physical exam followed by nonspecific signs of respiratory tract infection(44%) and respiratory distress(35%). Specific abnormal signs of heart failure such as heart murmur(26%), systolic hypotension(24%), gallop rhythm(20%), or hepatomegaly(20%) were less prevalent. Up to 43% of patients presented an early poor outcome, and 16% presented a late poor outcome. In multivariate analysis, an initial left ventricular ejection fraction(LVEF) < 30%remained the only significant predictor for early [odds ratio(OR)(95%CI) = 21(2-456), P = 0.027) and late [OR(95%CI) = 8(0.56-135), P = 0.047) poor outcome in children with myocarditis. LVEF correlated well with age(r = 0.51, P = 0.005),days from the initiation of symptoms(r =-0.31, P = 0.045), and N-terminal probrain natriuretic peptide levels(r = 0.66, P < 0.001), but not with troponin T(r =-0.05, P = 0.730) or C-reactive protein levels(r =-0.13, P = 0.391). N-terminal probrain natriuretic peptide presented a high diagnostic accuracy for LVEF < 30% on echocardiography with an area under curve of 0.931(95%CI: 0.858-0.995, P <0.001). The best cut-off point was 2000 pg/mL with a sensitivity of 90%,specificity of 81%, positive predictive value of 60%, and negative predictive value of 96%.CONCLUSION The diagnosis of myocarditis in children is challenging due to the heterogeneous and unspecific clinical presentation. The presence of LVEF < 30% on echocardiography on admission was the major predictor for poor outcomes.Younger ages, a prolonged course of the disease, and N-terminal pro-brain natriuretic peptide levels could help to identify these high-risk patients.展开更多
Nephrotic syndrome is one of the most common childhood kidney diseases. It is mostly found in the age group of 2 to 8 years. Around 10%-15% of nephrotic syndrome cases are non-responders of steroid treatment(SRNS).Ang...Nephrotic syndrome is one of the most common childhood kidney diseases. It is mostly found in the age group of 2 to 8 years. Around 10%-15% of nephrotic syndrome cases are non-responders of steroid treatment(SRNS).Angiotensin converting enzyme(ACE)(I/D) gene association studies are important for detecting kidney disease and herein we assessed the association of ACE(I/D) polymorphism with nephrotic syndrome in South Indian children. We recruited 260 nephrotic syndrome(162 boys and 98 girls) and 218(140 boys and 78 girls) control subjects. ACE I/D polymorphism was analyzed by PCR using genotype allele specific primers. In ACE(I/D), we did not find significant association for the ungrouped data of nephrotic syndrome children and the control subjects. Kidney biopsies were done in 86 nephrotic syndrome cases(minimal change disease, n = 51;focal segmental glomerulosclerosis, n = 27;diffuse mesangial proliferation, n = 8). We segregated them into the minimal change disease/focal segmental glomerulosclerosis groups and observed that the ACE’D’ allele was identified with borderline significance in cases of focal segmental glomerulosclerosis and the ’Ⅰ’ allele was assessed as having very weak association in cases of minimal change disease. ’Ⅱ’ genotype was weakly associated with minimal change disease. Gender specific analysis revealed weak association of’ID’ genotype with female nephrotic syndrome in females. Dominant expression of DD genotype was observed in males with nephrotic syndrome. Our finding indicated that ACE(I/D) has moderate association with focal segmental glomerulosclerosis. However, due to the limited number of biopsy proven focal segmental glomerulosclerosis subjects enrolled, further studies are required to confirm these results.展开更多
AIM: To investigate the angiographic and volumetric effects of mammalian target of rapamycin(m TOR) inhibitors on angiomyolipomas(AMLs) in a case series of patients with tuberous sclerosis complex.METHODS: All patient...AIM: To investigate the angiographic and volumetric effects of mammalian target of rapamycin(m TOR) inhibitors on angiomyolipomas(AMLs) in a case series of patients with tuberous sclerosis complex.METHODS: All patients who underwent catheter angiography prior to and following m TOR inhibitor therapy(n = 3) were evaluated. All cross-sectional imaging studies were analyzed with three-dimensional volumetrics, and tumor volume curves for all three tissue compartments(soft tissue, vascular, and fat) were generated. Segmentation analysis tools were used to automatically create a region of interest(ROI) circumscribing the AML. On magnetic resonance images, the "fat only" map calculated from the in- and opposed-phase gradient recalled echo sequences was used to quantify fat volume within tumors. Tumor vascularity was measured by applying a thresholding toolwithin the ROI on post-contrast subtraction images. On computed tomography images, volume histogram analysis of Hounsfield unit was performed to quantify tumor tissue composition. The angiography procedures were also reviewed, and tumor vascularity based on pre-embolization angiography was characterized in a semi-quantitative manner. RESULTS: Patient 1 presented at the age of 15 with a 6.8 cm right lower pole AML and a 4.0 cm right upper pole AML. Embolization was performed of both tumors, and after a few years of size control, the tumors began to grow, and the patient was initiated on m TOR inhibitor therapy. There was an immediate reduction in the size of both lesions. The patient then underwent repeat embolization and discontinuation of m TOR inhibition, after which point there was a substantial regrowth in both tumors across all tissue compartments. Patient 2 presented at the age of 18 with a right renal AML. Following a brief period of tumor reduction after embolization, she was initiated on m TOR inhibitor therapy, with successful reduction in tumor size across all tissue compartments. As with patient 1, however, there was immediate rebound growth following discontinuation of inhibitor therapy, without sustained control despite repeat embolization. patient 3 presented at the age of 5 with a left renal AML and underwent two embolization procedures without lasting effect prior to starting m TOR inhibition. As with patients 1 and 2, following discontinuation of therapy, there was immediate rebound growth of the tumor. Repeat embolization, however, was notable for a substantial reduction in intratumoral aneurysms and vascularity.CONCLUSION: AML volume reduction as well as posttreatment rebound growth due to m TOR inhibitors involves all three tissue components of the tumor.展开更多
Renal biopsy is an invasive procedure used to evaluate the activity and the therapeutic management of kidney disease and kidney transplantation. Objective: The aim of this study was to describe the epidemiological, cl...Renal biopsy is an invasive procedure used to evaluate the activity and the therapeutic management of kidney disease and kidney transplantation. Objective: The aim of this study was to describe the epidemiological, clinical, and pathological features of kidney disease diagnosed by biopsy in the Ivory Coast. Materials and Methods: This was a descriptive and prospective study conducted between January 2015 and December 2018 in the Department of Anatomy and Cytology of the Pathology of Cocody (Abidjan) and Bouake. Specimens were obtained from the nephrology department of Ivory Coast and from teaching hospitals in Togo, Guinea, Burkina Faso, and Mali. Samples were analyzed according to standard renal biopsy procedures. One kidney fragment was fixed in acetic acid formalin (AAF) for optical microscopy examination. The other fragment, soaked in physiological water, was immediately sent for immunofluorescence examination. All renal pathologies were included in this study. The study parameters were frequency, age, sex, origin, occupation, clinical and biological signs, and pathological aspects with optical microscopy, and immunofluorescence. Results: 153 cases (2.23%) of kidney biopsies were examined on a total of 10,573 specimens. Ivory Coast specimens accounted for 91.5% of cases (n = 140). Nephrotic syndrome (49%) was the most common clinical sign and indication for renal biopsy, followed by acute renal failure (16.3%), chronic renal failure (19.6%), and a combination of chronic renal failure with hypertension (11.18%) and glomerulonephritis (4%). Mean proteinuria was 3.03 g/24h (range, 0.14 to 11.5 g/24h). Histologically, 90.8% (n = 139) were glomerular nephropathies, including 26.6% HIV-associated nephropathy, 17.3% focal segmental glomerulosclerosis, 13.6% nephroangiosclerosis, 11.5% post-infectious glomerulonephritis, 9.3% membranous glomerulonephritis, and 21.6% miscellaneous glomerular nephropathies (n = 30). The incidence of various tubulo-interstitial lesions was 9.2% (n = 14). Conclusion: Glomerular nephropathies represent the most important renal diseases. Young people are most commonly affected with a high prevalence of focal segmental glomerulosclerosis and HIV-associated nephropathy.展开更多
X-linked agammaglobulinemia also known as Bruton’s disease, is a humoral immunodeficiency disease characterized by recurrent bacterial infections due to low levels or absence of serum immunoglobulins. It has been sho...X-linked agammaglobulinemia also known as Bruton’s disease, is a humoral immunodeficiency disease characterized by recurrent bacterial infections due to low levels or absence of serum immunoglobulins. It has been shown to be caused by mutations in the gene encoding Bruton tyrosine kinase. Although bacterial infections typically begins 6-9 months after birth when maternal IgG is reduced below the protective level, the diagnosis is established before 5 years of age. Here we report a case with Bruton’s disease and recurrent pneumonia?that is typical of the late diagnosed disease. This report suggests the importance of evaluating patients with recurrent infections for immunodeficiency diseases.展开更多
The nutcracker phenomenon [left renal vein(LRV) entrapment syndrome] refers to compression of the LRV most commonly between abdominal aorta and superior mesenteric artery.Term of nutcracker syndrome(NCS) is used for p...The nutcracker phenomenon [left renal vein(LRV) entrapment syndrome] refers to compression of the LRV most commonly between abdominal aorta and superior mesenteric artery.Term of nutcracker syndrome(NCS) is used for patients with clinical symptoms associated with nutcracker anatomy.LRV entrapment divided into 2 types:anterior and posterior.Posterior and right-sided NCSs are rare conditions.The symptoms vary from asymptomatic hematuria to severe pelvic congestion.Symptoms include hematuria,orthostatic proteinuria,flank pain,abdominal pain,varicocele,dyspareunia,dysmenorrhea,fatigue and orthostatic intolerance.Existence of the clinical features constitutes a basis for the diagnosis.Several imaging methods such as Doppler ultrasonography,computed tomography angiography,magnetic resonance angiography and retrograde venography are used to diagnose NCS.The management of NCS depends upon the clinical presentation and the severity of the LRV hypertension.The treatment options are ranged from surveillance to nephrectomy.Treatment decision should be based on the severity of symptoms and their expected reversibility with regard to patient's age and the stage of the syndrome.展开更多
AIM To investigate different etiologies and management of the rhabdomyolysis in children.METHODS Eight pediatric rhabdomyolysis cases who applied to the Dokuz Eylul University Faculty of Medicine Department of Pediatr...AIM To investigate different etiologies and management of the rhabdomyolysis in children.METHODS Eight pediatric rhabdomyolysis cases who applied to the Dokuz Eylul University Faculty of Medicine Department of Pediatric Nephrology with different etiologies between January 2004 and January 2012 were evaluated in terms of age, gender, admission symptoms, physical examination findings, factors provoking rhabdomyolysis, number of rhabdomyolysis attacks, laboratory results, family history and the final diagnosis received after the treatment. RESULTS Average diagnosis ages of eight cases were 129(24-192) ± 75.5 mo and five of them were girls. All of them had applied with the complaint of muscle pain, calf pain, and dark color urination. Infection(pneumonia) and excessive physical activity were the most important provocative factors and excessive licorice consumption was observed in one case. In 5 cases, acute kidney injury was determined and two cases needed hemodialysis. As a result of the further examinations; the cases had received diagnoses of rhabdomyolysis associated with mycoplasma pneumoniae, sepsis associated rhabdomyolysis, licorice-induced hypokalemic rhabdomyolysis, carnitine palmitoyltransferase Ⅱ deficiency, very long-chain acyl-CoA dehydrogenase deficiency, congenital muscular dystrophy and idiopathic paroxysmal rhabdomyolysis(Meyer-Betz syndrome).CONCLUSION It is important to distinguish the sporadic and recurrent rhabdomyolysis cases from each other. Recurrent rhabdomyolysis cases should follow up more regardful and attentive.展开更多
AIM: To evaluate the association between apolipoprotein E (apoE) gene polymorphism and total cholesterol (TC) level in patients with kidney diseases. METHODS: A predefined literature search was performed to coll...AIM: To evaluate the association between apolipoprotein E (apoE) gene polymorphism and total cholesterol (TC) level in patients with kidney diseases. METHODS: A predefined literature search was performed to collect data from the electronic databases of PubMed, Embase and the Cochrane Library and eligible relevant studies reporting the association of apoE gene polymorphism with TC level in patients with kidney diseases were recruited for meta-analysis.RESULTS: Twenty-one studies were identifed for the analysis of association between apoE gene polymorphism and TC level in patients with kidney disease. Subjects with E3E4 had a higher TC than those with E3E3 [weighted mean differences (WMD)=2.14, P=0.01] and subjects with E2E3 had a lower TC than those with E3E3 (WMD=-1.93, P=0.01). Subjects with ε2 had a lower TC than those with ε3 (ε2 vs ε3: WMD=-1.23, P=0.002; ε2 vs ε4: WMD=-2.77, P﹤0.0001) and subjects with 3 had a lower TC than those with 4 (WMD=-0.79, P=0.03). CONCLUSION: Subjects with apoE E3E4 and ε4 had a higher TC level and subjects with apoE E2E3 and ε2 had a higher TC level in patients with kidney disease. However, more well-designed studies should be per-formed in the future to confrm these fndings.展开更多
Lyme disease is a tick-borne multisystemic disease with multiple clinical presentations including rheumatological conditions. We present a 12 year old girl complaining of fever, arthralgia and redness in her eyes whic...Lyme disease is a tick-borne multisystemic disease with multiple clinical presentations including rheumatological conditions. We present a 12 year old girl complaining of fever, arthralgia and redness in her eyes which was found to be the result of panuveitis. Borrelia antibodies were positive and she received 21-day treatment regimen with Ceftriaxon with resolution of all complaints at the end of treatment. Lyme disease classically occurs in three stages starting with erythema migrans, however atypical presentations skipping this stage and presenting with opthalmologic involvement in form of uveitis can be seen.展开更多
Cannabinoid hyperemesis syndrome (CHS) involves cyclical nausea, vomiting, and abdominal pain linked to use of cannabis with resolution of symptoms upon cessation of cannabinoids. Although electrolyte disturbances, fl...Cannabinoid hyperemesis syndrome (CHS) involves cyclical nausea, vomiting, and abdominal pain linked to use of cannabis with resolution of symptoms upon cessation of cannabinoids. Although electrolyte disturbances, fluid imbalances, and nutritional deficiencies are known complications of CHS in the setting of intractable vomiting, severe hypophosphatemia is a rare clinical phenomenon cited primarily in the adult literature. Pediatric cases are scarcer, thus the magnitude associated with our patient case describes an adolescent diagnosed with CHS complicated by recurrent severe hypophosphatemia. As cannabis accessibility and potential for abuse increase with the wave of legalization seen at the state level, clinician awareness is needed for such adverse entities related to cannabinoid toxicity.展开更多
Objective: To describe employment achievement and social independence of adul ts with childhood end- stage renal disease (ESRD) and to explore determining fa ctors. Study design: Employment, occupational level, living...Objective: To describe employment achievement and social independence of adul ts with childhood end- stage renal disease (ESRD) and to explore determining fa ctors. Study design: Employment, occupational level, living arrangements, social engagements, and subjective health perception were cross- sectionally establis hed between 1998 and 2000 in 144 of all living 187 adult Dutch patients with ESR D with an onset at age 0 to 15 years between 1972 and 1992. Potential clinical d eterminants were established by means of a review of all medical charts. Results : Compared with age- matched Dutch citizens, patients were more often involunta rily unemployed (19.4% vs 11.1% ), had a lower occupational level, more often still lived with their parents, and more often had no partner. A low occupation al levelwas associated with a dialysis duration >8 years (OR, 9.6; 95% CI, 1.9 - 47.6); living at the parental home was associated with the male sex (OR, 3.4; 95% CI, 1.5- 7.8) and with a dialysis duration >8 years (OR, 3.7; 95% CI, 1.3 - 10.2). Conclusion: Prolonged dialysis during childhood may decrease the abili ty to gain high- skilled professions and social independence. Unemployment is t wice as high in adult patients with childhood ESRD than in healthy persons, but more than twice as low as compared with young ESRD patients with an adult onset of the disease, according to previous reports.展开更多
The present study aimed to investigate the correlation of MPV and splenomegaly as inflammation activity of FMF patients at the attacks free period. We retrospectively reviewed the medical records of 43 patients with F...The present study aimed to investigate the correlation of MPV and splenomegaly as inflammation activity of FMF patients at the attacks free period. We retrospectively reviewed the medical records of 43 patients with FMF. This study was performed at the attack free period as clinical and laboratory. For this study, patients were divided into two groups. Patients with splenomegaly is called group 1 (n = 12) and patients with no splenomegaly is called group 2 (n = 31). Groups were compared respect to age, gender, platelet counts, acute phase reactants and MPV. The mean MPV (fl) were significantly higher in group 1 (8.9 ±0.8) than in group 2 (8.4 ±0.5, p 【0.05). This study suggested that increased MPV and splenomegaly without amyloidosis could be a sign of chronic inflammation in children with FMF even in attack free period.展开更多
Nephronophthisis-related ciliopathies(NPHP-RC)represent one of the most common causes of chronic kidney disease in the first three decades of life and are characterized by a broad genetic and clinical heterogeneity.1 ...Nephronophthisis-related ciliopathies(NPHP-RC)represent one of the most common causes of chronic kidney disease in the first three decades of life and are characterized by a broad genetic and clinical heterogeneity.1 To date,more than 90 genes have been identified that cause autosomalrecessive NPHP-RC if mutated,accounting for up to 60%of cases.1 Among these,homozygous deletions of NPHP1 are the most common cause.Ciliopathy genes localize to primary cilia,basal bodies,or the centrosome and lead to a primary ciliary disruption if mutated,thereby causing a broad phenotypical spectrum.1 Patients that suffer from NPHP-RC can either have an isolated renal phenotype,such as polyuria,polydipsia,decreased urinary concentration ability,and secondary enuresis due to loss of tubular function,or present with extrarenal symptoms including retinal degeneration,cerebellar vermis hypoplasia,or hepatic fibrosis.Patients are often diagnosed in early adolescence,reaching end-stage renal disease before 25 years of age,but early onset and rapidly progressive forms of NPHP-RC also exist.1 Renal ultrasound indicates kidneys of normal or reduced renal length with increased echogenicity and corticomedullary cysts.展开更多
Background Mizoribine (MZR) is an immunosuppressant used to treat adult nephropathy.There is little experience with the drug in treating Chinese children with frequently relapsing nephrotic syndrome (FRNS).We investig...Background Mizoribine (MZR) is an immunosuppressant used to treat adult nephropathy.There is little experience with the drug in treating Chinese children with frequently relapsing nephrotic syndrome (FRNS).We investigated the efficacy and safety for treating MZR with FRNS.Furthermore,the relationship between efficacy and serum concentration was investigated.Methods A prospective multicenter observational 12-month study was performed for evaluating the usefulness of MZR with FRNS.Serum MZR concentration was measured,and the relationships between pharmacokinetic parameters (Cmax,AUC),number of relapses,and urinary protein were evaluated.Results Eighty-two pediatric patients from four hospitals were treated with MZR and prednisone.MZR treatment significantly reduced the number of relapses and steroid doses.A correlation between pharmacokinetic parameters and relapses was observed,which fits well with the sigmoidal Emax model.Even in the relationship between pharmacokinetic parameters and urinary proteins,it was recognized that there was a threshold in the pharmacokinetic parameters for the therapeutic effect similar to the results obtained with the sigmoidal Emax model.Eleven patients (13.4%) experienced mild adverse events.Conclusions MZR therapy was effective in reducing the number of relapses and steroid doses.No severe adverse reactions were observed.Therapeutically effective serum concentrations were estimated to be Cmax > about 2 μg/mL or AUC > about 10 lag h/mL.MZR and steroid treatment were effective and safe for pediatric FRNS.展开更多
Background:The effects of Helicobacter pylori(H.pylori)infection on growth are a controversial issue.We investigated the effects of long-term H.pylori infection on height and weight in children.Methods:A total of 200 ...Background:The effects of Helicobacter pylori(H.pylori)infection on growth are a controversial issue.We investigated the effects of long-term H.pylori infection on height and weight in children.Methods:A total of 200 children of 7-18 years old suffering from dyspeptic complaints were classified into two groups:H.pylori positive and negative groups,respectively.Whether the infection was impoved was followed up while performing urea breath test,and according to exposure time to the infection,the children were further divided into group 1(≤1.5 months),group 2(>1.5-≤6 months)and group 3(>6 months).Antropometric measurements were obtained and repeated every six months.Results:Mean growth velocity scores in the H.pylori positive and negative groups were 0.49±3.85[95%confidence interval(CI):-0.21-1.18]and 1.98±4.42(95%CI:1-2.96),respectively.The difference between both groups was statistically significant(P=0.012).Mean growth velocity scores in groups 1,2 and 3 were 0.96±3.84,0.16±4.51 and-0.85±3.09,respectively.Mean growth velocity scores of group 3 were significantly lower than those of groups 0 and 1(P=0.005 and P=0.041).The mean weight scores in group 3 were similar to those in group 2,but the scores in group 3 were signifi cantly lower than those in group 1(-1.75±1.05,-1.21±1.37 and-0.88±1.49,respectively).Conclusion:As the duration of exposure is prolonged in children with H.pylori infection,the negative effect of the infection on both height and weight is evident.展开更多
Background Chronic kidney disease(CKD)is a leading risk factor for development of cardiovascular disease(CVD).Dyslipidemia is also known as risk factor for CVD development.However,the association of dyslipidemia with ...Background Chronic kidney disease(CKD)is a leading risk factor for development of cardiovascular disease(CVD).Dyslipidemia is also known as risk factor for CVD development.However,the association of dyslipidemia with glomerular injury among healthy children and adolescents remains controversial.We aimed to investigate the relationship between estimated glomerular filtration rate(eGFR)and lipid profile risk factors among healthy children and adolescents.Methods In this nationwide survey,3808 participants(1992 males,1816 females),aged 7-18 years,were selected by cluster random sampling method from 30 provinces in Iran.Body mass index(BMI)and systolic and diastolic blood pressures were measured.Blood samples were obtained for serum creatinine,fasting blood glucose,total cholesterol(TC),high-density lipoprotein cholesterol(HDL-C),low-density lipoprotein cholesterol(LDL-C),and triglyceride(TG)determinations.GFR was estimated using Schwartz equation.Results Girls had higher eGFR than boys(P=0.04).In a multiple regression analysis,eGFR demonstrated a positive correlation with systolic blood pressure,BMI,fasting glucose,TC,HDL-C,and TG.By the analysis of covariance,TC,HDL-C,and TG showed a negative correlation with eGFR after adjustments for BMI,systolic and diastolic blood pressures,and fasting glucose(OR=0.56,95%CI=0.29-0.89).Conclusion The study showed that dyslipidemia is associated with reduced eGFR among the healthy children and adolescents.展开更多
文摘BACKGROUND Warts are common in recipients of kidney transplantation(KT).Resistant warts which are not amenable to conventional therapies may lead to significant morbidity.Limited data exists on safety and efficacy of local immunotherapy among immunocompromised KT recipients.CASE SUMMARY We report a seven-year-old child who presented with recalcitrant plantar periungual warts in the early KT period.Immunosuppression consisted of tacrolimus,mycophenolate and steroid.Due to failure of conventional anti-wart therapies,he was treated with two sessions of intralesional(IL)candida immunotherapy along with liquid nitrogen cryotherapy leading to complete resolution of the warts.Interestingly,de novo BK viremia was seen about three weeks following the last candida immunotherapy.This required reduction of immunosuppression and other anti-BK viral therapies.Allograft function remained stable but there were donor specific antibodies detected.There also was elevated level of plasma donor derived cell-free DNA.A pneumocystis jirovecii pneumonia occurred ten months following completion of immunotherapy that was successfully treated with trimethoprim-sulfamethoxazole.During this ten-month follow-up period,there have been no recurrence of warts,and transplant kidney function has remained stable.CONCLUSION Stimulation of cell-mediated immunity against the human papilloma virus induced by the IL candida immunotherapy is thought to be a cause for wart resolution.With this therapy,whether it is necessary to augment the immunosuppression to prevent rejection is unclear as that may come with a risk of infectious complications.Larger,prospective studies in pediatric KT recipients are needed to explore these important issues.
文摘Objective: To analyze the epidemiological characteristics of growth, as well as factors associated with growth retardation in children with primary nephrotic syndrome (PNS), and to investigate the effect of glucocorticoid (GC) use duration on growth retardation in these children. Methods: Clinical and laboratory data of 353 PNS children treated at our hospital from July 2014 to June 2015 were collected through the medical record management system. Height, weight, and GC usage were recorded. Follow-up assessments were conducted in August 2022 for the original group, recording height, weight, and GC usage. Height and weight were evaluated using standard deviation scores (SDS). Categorical data were analyzed using chi-square test while continuous measurement data were analyzed using t-test or rank-sum test. Linear regression was used to assess the association between two single independent variables, and logistic regression analysis was used to screen for risk factors related to growth retardation in children with PNS. Results: Among the 353 PNS children enrolled in this study, male-to-female ratio of 2.64:1 (256 males vs 97 females). A total of 119 children exhibited growth retardation, incidence rate of 33.71%. The duration of GC usage among those with growth retardation was significantly longer compared to those without it (762.81 ± 934.50 days vs 263.77 ± 420.49 days;p Conclusion: PNS children treated with GC have a high incidence of growth retardation, and a high proportion of short stature in adulthood, especially in children with growth retardation in childhood, most of them have short stature after grown up. Time of GC usage is a risk factor for growth retardation in children with PNS.
文摘Racial, ethnic, and socioeconomic disparities present daunting hurdles that prevent equitable health outcomes for patients with end-stage kidney disease (ESKD) on hemodialysis. Additional resources, such as the Novel Intervention in Children’s Health (NICH) at Lucille Packard Children’s Hospital Stanford, provide individualized support to best assist families by assessing barriers to care with the goal of improving health outcomes. In this retrospective cohort study, we reviewed patients with ESKD on hemodialysis involved in NICH to explore if NICH serves as a liaison between the patients and multidisciplinary medical team and to explore if NICH helps patients better manage the challenges of end-stage kidney disease. Through the electronic medical record system, EPIC, we reviewed the patients’ surveys to identify barriers to care, which included school and life engagement difficulty, lack of mental health resources, food and transportation insecurity, and cultural/language barriers. We also tracked the number of hospitalizations and ED visits before and during the patients’ enrollment in NICH. We discovered that through NICH, the aforementioned barriers to care were eliminated, the number of hospitalizations and emergency department visits was reduced, and all patients transitioned from inactive to active on the transplant list. NICH successfully improved the health outcomes of these patients and empowered patients to be more engaged in their care.
文摘BACKGROUND Myocarditis is an important cause of morbidity and mortality in children, leading to long-term sequelae including chronic congestive heart failure, dilated cardiomyopathy, heart transplantation, and death. The initial diagnosis of myocarditis is usually based on clinical presentation, but this widely ranges from the severe sudden onset of a cardiogenic shock to asymptomatic patients. Early recognition is essential in order to monitor and start supportive treatment prior to the development of severe adverse events. Of note, many cases of fulminant myocarditis are usually misdiagnosed as otherwise minor conditions during the weeks before the unexpected deterioration.AIM To provide diagnostic clues to make an early recognition of pediatric myocarditis.To investigate early predictors for poor outcomes.METHODS We conducted a retrospective cross-sectional single-center study from January 2008 to November 2017 at the Pediatric Department of our institution, including children < 18-years-old diagnosed with myocarditis. Poor outcome was defined as the occurrence of any of the following facts: death, heart transplant, persistent left ventricular systolic dysfunction or dilation at hospital discharge(early poor outcome), or after 1 year of follow-up(late poor outcome). We analyzed different clinical features and diagnostic test findings in order to provide diagnostic clues for myocarditis in children. Multivariable stepwise logistic regression analysis was performed using all variables that had been selected by univariate analysis to determine independent factors that predicted a poor early or late outcome in our study population.RESULTS A total of 42 patients [69% male; median age of 8(1.5-12) years] met study inclusion criteria. Chest pain(40%) was the most common specific cardiac symptom. Respiratory tract symptoms(cough, apnea, rhinorrhea)(38%),shortness of breath(35%), gastrointestinal tract symptoms(vomiting, abdominal pain, diarrhea)(33%), and fever(31%) were the most common non-cardiac initial complaints. Tachycardia(57%) and tachypnea(52%) were the most common signs on the initial physical exam followed by nonspecific signs of respiratory tract infection(44%) and respiratory distress(35%). Specific abnormal signs of heart failure such as heart murmur(26%), systolic hypotension(24%), gallop rhythm(20%), or hepatomegaly(20%) were less prevalent. Up to 43% of patients presented an early poor outcome, and 16% presented a late poor outcome. In multivariate analysis, an initial left ventricular ejection fraction(LVEF) < 30%remained the only significant predictor for early [odds ratio(OR)(95%CI) = 21(2-456), P = 0.027) and late [OR(95%CI) = 8(0.56-135), P = 0.047) poor outcome in children with myocarditis. LVEF correlated well with age(r = 0.51, P = 0.005),days from the initiation of symptoms(r =-0.31, P = 0.045), and N-terminal probrain natriuretic peptide levels(r = 0.66, P < 0.001), but not with troponin T(r =-0.05, P = 0.730) or C-reactive protein levels(r =-0.13, P = 0.391). N-terminal probrain natriuretic peptide presented a high diagnostic accuracy for LVEF < 30% on echocardiography with an area under curve of 0.931(95%CI: 0.858-0.995, P <0.001). The best cut-off point was 2000 pg/mL with a sensitivity of 90%,specificity of 81%, positive predictive value of 60%, and negative predictive value of 96%.CONCLUSION The diagnosis of myocarditis in children is challenging due to the heterogeneous and unspecific clinical presentation. The presence of LVEF < 30% on echocardiography on admission was the major predictor for poor outcomes.Younger ages, a prolonged course of the disease, and N-terminal pro-brain natriuretic peptide levels could help to identify these high-risk patients.
基金supported by Networking Resource Centre in Biological Sciences (NRCBS funded by UGC, Govt. of India)
文摘Nephrotic syndrome is one of the most common childhood kidney diseases. It is mostly found in the age group of 2 to 8 years. Around 10%-15% of nephrotic syndrome cases are non-responders of steroid treatment(SRNS).Angiotensin converting enzyme(ACE)(I/D) gene association studies are important for detecting kidney disease and herein we assessed the association of ACE(I/D) polymorphism with nephrotic syndrome in South Indian children. We recruited 260 nephrotic syndrome(162 boys and 98 girls) and 218(140 boys and 78 girls) control subjects. ACE I/D polymorphism was analyzed by PCR using genotype allele specific primers. In ACE(I/D), we did not find significant association for the ungrouped data of nephrotic syndrome children and the control subjects. Kidney biopsies were done in 86 nephrotic syndrome cases(minimal change disease, n = 51;focal segmental glomerulosclerosis, n = 27;diffuse mesangial proliferation, n = 8). We segregated them into the minimal change disease/focal segmental glomerulosclerosis groups and observed that the ACE’D’ allele was identified with borderline significance in cases of focal segmental glomerulosclerosis and the ’Ⅰ’ allele was assessed as having very weak association in cases of minimal change disease. ’Ⅱ’ genotype was weakly associated with minimal change disease. Gender specific analysis revealed weak association of’ID’ genotype with female nephrotic syndrome in females. Dominant expression of DD genotype was observed in males with nephrotic syndrome. Our finding indicated that ACE(I/D) has moderate association with focal segmental glomerulosclerosis. However, due to the limited number of biopsy proven focal segmental glomerulosclerosis subjects enrolled, further studies are required to confirm these results.
文摘AIM: To investigate the angiographic and volumetric effects of mammalian target of rapamycin(m TOR) inhibitors on angiomyolipomas(AMLs) in a case series of patients with tuberous sclerosis complex.METHODS: All patients who underwent catheter angiography prior to and following m TOR inhibitor therapy(n = 3) were evaluated. All cross-sectional imaging studies were analyzed with three-dimensional volumetrics, and tumor volume curves for all three tissue compartments(soft tissue, vascular, and fat) were generated. Segmentation analysis tools were used to automatically create a region of interest(ROI) circumscribing the AML. On magnetic resonance images, the "fat only" map calculated from the in- and opposed-phase gradient recalled echo sequences was used to quantify fat volume within tumors. Tumor vascularity was measured by applying a thresholding toolwithin the ROI on post-contrast subtraction images. On computed tomography images, volume histogram analysis of Hounsfield unit was performed to quantify tumor tissue composition. The angiography procedures were also reviewed, and tumor vascularity based on pre-embolization angiography was characterized in a semi-quantitative manner. RESULTS: Patient 1 presented at the age of 15 with a 6.8 cm right lower pole AML and a 4.0 cm right upper pole AML. Embolization was performed of both tumors, and after a few years of size control, the tumors began to grow, and the patient was initiated on m TOR inhibitor therapy. There was an immediate reduction in the size of both lesions. The patient then underwent repeat embolization and discontinuation of m TOR inhibition, after which point there was a substantial regrowth in both tumors across all tissue compartments. Patient 2 presented at the age of 18 with a right renal AML. Following a brief period of tumor reduction after embolization, she was initiated on m TOR inhibitor therapy, with successful reduction in tumor size across all tissue compartments. As with patient 1, however, there was immediate rebound growth following discontinuation of inhibitor therapy, without sustained control despite repeat embolization. patient 3 presented at the age of 5 with a left renal AML and underwent two embolization procedures without lasting effect prior to starting m TOR inhibition. As with patients 1 and 2, following discontinuation of therapy, there was immediate rebound growth of the tumor. Repeat embolization, however, was notable for a substantial reduction in intratumoral aneurysms and vascularity.CONCLUSION: AML volume reduction as well as posttreatment rebound growth due to m TOR inhibitors involves all three tissue components of the tumor.
文摘Renal biopsy is an invasive procedure used to evaluate the activity and the therapeutic management of kidney disease and kidney transplantation. Objective: The aim of this study was to describe the epidemiological, clinical, and pathological features of kidney disease diagnosed by biopsy in the Ivory Coast. Materials and Methods: This was a descriptive and prospective study conducted between January 2015 and December 2018 in the Department of Anatomy and Cytology of the Pathology of Cocody (Abidjan) and Bouake. Specimens were obtained from the nephrology department of Ivory Coast and from teaching hospitals in Togo, Guinea, Burkina Faso, and Mali. Samples were analyzed according to standard renal biopsy procedures. One kidney fragment was fixed in acetic acid formalin (AAF) for optical microscopy examination. The other fragment, soaked in physiological water, was immediately sent for immunofluorescence examination. All renal pathologies were included in this study. The study parameters were frequency, age, sex, origin, occupation, clinical and biological signs, and pathological aspects with optical microscopy, and immunofluorescence. Results: 153 cases (2.23%) of kidney biopsies were examined on a total of 10,573 specimens. Ivory Coast specimens accounted for 91.5% of cases (n = 140). Nephrotic syndrome (49%) was the most common clinical sign and indication for renal biopsy, followed by acute renal failure (16.3%), chronic renal failure (19.6%), and a combination of chronic renal failure with hypertension (11.18%) and glomerulonephritis (4%). Mean proteinuria was 3.03 g/24h (range, 0.14 to 11.5 g/24h). Histologically, 90.8% (n = 139) were glomerular nephropathies, including 26.6% HIV-associated nephropathy, 17.3% focal segmental glomerulosclerosis, 13.6% nephroangiosclerosis, 11.5% post-infectious glomerulonephritis, 9.3% membranous glomerulonephritis, and 21.6% miscellaneous glomerular nephropathies (n = 30). The incidence of various tubulo-interstitial lesions was 9.2% (n = 14). Conclusion: Glomerular nephropathies represent the most important renal diseases. Young people are most commonly affected with a high prevalence of focal segmental glomerulosclerosis and HIV-associated nephropathy.
文摘X-linked agammaglobulinemia also known as Bruton’s disease, is a humoral immunodeficiency disease characterized by recurrent bacterial infections due to low levels or absence of serum immunoglobulins. It has been shown to be caused by mutations in the gene encoding Bruton tyrosine kinase. Although bacterial infections typically begins 6-9 months after birth when maternal IgG is reduced below the protective level, the diagnosis is established before 5 years of age. Here we report a case with Bruton’s disease and recurrent pneumonia?that is typical of the late diagnosed disease. This report suggests the importance of evaluating patients with recurrent infections for immunodeficiency diseases.
文摘The nutcracker phenomenon [left renal vein(LRV) entrapment syndrome] refers to compression of the LRV most commonly between abdominal aorta and superior mesenteric artery.Term of nutcracker syndrome(NCS) is used for patients with clinical symptoms associated with nutcracker anatomy.LRV entrapment divided into 2 types:anterior and posterior.Posterior and right-sided NCSs are rare conditions.The symptoms vary from asymptomatic hematuria to severe pelvic congestion.Symptoms include hematuria,orthostatic proteinuria,flank pain,abdominal pain,varicocele,dyspareunia,dysmenorrhea,fatigue and orthostatic intolerance.Existence of the clinical features constitutes a basis for the diagnosis.Several imaging methods such as Doppler ultrasonography,computed tomography angiography,magnetic resonance angiography and retrograde venography are used to diagnose NCS.The management of NCS depends upon the clinical presentation and the severity of the LRV hypertension.The treatment options are ranged from surveillance to nephrectomy.Treatment decision should be based on the severity of symptoms and their expected reversibility with regard to patient's age and the stage of the syndrome.
文摘AIM To investigate different etiologies and management of the rhabdomyolysis in children.METHODS Eight pediatric rhabdomyolysis cases who applied to the Dokuz Eylul University Faculty of Medicine Department of Pediatric Nephrology with different etiologies between January 2004 and January 2012 were evaluated in terms of age, gender, admission symptoms, physical examination findings, factors provoking rhabdomyolysis, number of rhabdomyolysis attacks, laboratory results, family history and the final diagnosis received after the treatment. RESULTS Average diagnosis ages of eight cases were 129(24-192) ± 75.5 mo and five of them were girls. All of them had applied with the complaint of muscle pain, calf pain, and dark color urination. Infection(pneumonia) and excessive physical activity were the most important provocative factors and excessive licorice consumption was observed in one case. In 5 cases, acute kidney injury was determined and two cases needed hemodialysis. As a result of the further examinations; the cases had received diagnoses of rhabdomyolysis associated with mycoplasma pneumoniae, sepsis associated rhabdomyolysis, licorice-induced hypokalemic rhabdomyolysis, carnitine palmitoyltransferase Ⅱ deficiency, very long-chain acyl-CoA dehydrogenase deficiency, congenital muscular dystrophy and idiopathic paroxysmal rhabdomyolysis(Meyer-Betz syndrome).CONCLUSION It is important to distinguish the sporadic and recurrent rhabdomyolysis cases from each other. Recurrent rhabdomyolysis cases should follow up more regardful and attentive.
文摘AIM: To evaluate the association between apolipoprotein E (apoE) gene polymorphism and total cholesterol (TC) level in patients with kidney diseases. METHODS: A predefined literature search was performed to collect data from the electronic databases of PubMed, Embase and the Cochrane Library and eligible relevant studies reporting the association of apoE gene polymorphism with TC level in patients with kidney diseases were recruited for meta-analysis.RESULTS: Twenty-one studies were identifed for the analysis of association between apoE gene polymorphism and TC level in patients with kidney disease. Subjects with E3E4 had a higher TC than those with E3E3 [weighted mean differences (WMD)=2.14, P=0.01] and subjects with E2E3 had a lower TC than those with E3E3 (WMD=-1.93, P=0.01). Subjects with ε2 had a lower TC than those with ε3 (ε2 vs ε3: WMD=-1.23, P=0.002; ε2 vs ε4: WMD=-2.77, P﹤0.0001) and subjects with 3 had a lower TC than those with 4 (WMD=-0.79, P=0.03). CONCLUSION: Subjects with apoE E3E4 and ε4 had a higher TC level and subjects with apoE E2E3 and ε2 had a higher TC level in patients with kidney disease. However, more well-designed studies should be per-formed in the future to confrm these fndings.
文摘Lyme disease is a tick-borne multisystemic disease with multiple clinical presentations including rheumatological conditions. We present a 12 year old girl complaining of fever, arthralgia and redness in her eyes which was found to be the result of panuveitis. Borrelia antibodies were positive and she received 21-day treatment regimen with Ceftriaxon with resolution of all complaints at the end of treatment. Lyme disease classically occurs in three stages starting with erythema migrans, however atypical presentations skipping this stage and presenting with opthalmologic involvement in form of uveitis can be seen.
文摘Cannabinoid hyperemesis syndrome (CHS) involves cyclical nausea, vomiting, and abdominal pain linked to use of cannabis with resolution of symptoms upon cessation of cannabinoids. Although electrolyte disturbances, fluid imbalances, and nutritional deficiencies are known complications of CHS in the setting of intractable vomiting, severe hypophosphatemia is a rare clinical phenomenon cited primarily in the adult literature. Pediatric cases are scarcer, thus the magnitude associated with our patient case describes an adolescent diagnosed with CHS complicated by recurrent severe hypophosphatemia. As cannabis accessibility and potential for abuse increase with the wave of legalization seen at the state level, clinician awareness is needed for such adverse entities related to cannabinoid toxicity.
文摘Objective: To describe employment achievement and social independence of adul ts with childhood end- stage renal disease (ESRD) and to explore determining fa ctors. Study design: Employment, occupational level, living arrangements, social engagements, and subjective health perception were cross- sectionally establis hed between 1998 and 2000 in 144 of all living 187 adult Dutch patients with ESR D with an onset at age 0 to 15 years between 1972 and 1992. Potential clinical d eterminants were established by means of a review of all medical charts. Results : Compared with age- matched Dutch citizens, patients were more often involunta rily unemployed (19.4% vs 11.1% ), had a lower occupational level, more often still lived with their parents, and more often had no partner. A low occupation al levelwas associated with a dialysis duration >8 years (OR, 9.6; 95% CI, 1.9 - 47.6); living at the parental home was associated with the male sex (OR, 3.4; 95% CI, 1.5- 7.8) and with a dialysis duration >8 years (OR, 3.7; 95% CI, 1.3 - 10.2). Conclusion: Prolonged dialysis during childhood may decrease the abili ty to gain high- skilled professions and social independence. Unemployment is t wice as high in adult patients with childhood ESRD than in healthy persons, but more than twice as low as compared with young ESRD patients with an adult onset of the disease, according to previous reports.
文摘The present study aimed to investigate the correlation of MPV and splenomegaly as inflammation activity of FMF patients at the attacks free period. We retrospectively reviewed the medical records of 43 patients with FMF. This study was performed at the attack free period as clinical and laboratory. For this study, patients were divided into two groups. Patients with splenomegaly is called group 1 (n = 12) and patients with no splenomegaly is called group 2 (n = 31). Groups were compared respect to age, gender, platelet counts, acute phase reactants and MPV. The mean MPV (fl) were significantly higher in group 1 (8.9 ±0.8) than in group 2 (8.4 ±0.5, p 【0.05). This study suggested that increased MPV and splenomegaly without amyloidosis could be a sign of chronic inflammation in children with FMF even in attack free period.
基金The Deutsche Forschungsgemeinschaft funded V.K.(No.403877094)S.Se(No.442070894)and T.J.S.(No.281319475)+1 种基金V.K.was also funded by the Else-Kroner Fresenius Stiftung(Memorial Grant)the BIH ChariteClinician Scientist Program by the Charite´e Universitatsmedizin Berlin,and the Berlin Institute of Health at Charite.S.Se.was supported by the Deutsche Forschungsgemeinschaft(German Research Foundation)lT.M.K.was also supported by a Post-Doctoral Fellowship award from the KRESCENT Program,a national kidney research training partnership of the Kidney Foundation of Canada,the Canadian Society of Nephrology,and the Canadian Institutes of Health Research.T.J.-S.received funding from the IZKF Erlangen(J70)and the Eva Luise und Horst Kohler Stiftung/Else Kroer-Fresenius Stiftung(RECORD program).
文摘Nephronophthisis-related ciliopathies(NPHP-RC)represent one of the most common causes of chronic kidney disease in the first three decades of life and are characterized by a broad genetic and clinical heterogeneity.1 To date,more than 90 genes have been identified that cause autosomalrecessive NPHP-RC if mutated,accounting for up to 60%of cases.1 Among these,homozygous deletions of NPHP1 are the most common cause.Ciliopathy genes localize to primary cilia,basal bodies,or the centrosome and lead to a primary ciliary disruption if mutated,thereby causing a broad phenotypical spectrum.1 Patients that suffer from NPHP-RC can either have an isolated renal phenotype,such as polyuria,polydipsia,decreased urinary concentration ability,and secondary enuresis due to loss of tubular function,or present with extrarenal symptoms including retinal degeneration,cerebellar vermis hypoplasia,or hepatic fibrosis.Patients are often diagnosed in early adolescence,reaching end-stage renal disease before 25 years of age,but early onset and rapidly progressive forms of NPHP-RC also exist.1 Renal ultrasound indicates kidneys of normal or reduced renal length with increased echogenicity and corticomedullary cysts.
文摘Background Mizoribine (MZR) is an immunosuppressant used to treat adult nephropathy.There is little experience with the drug in treating Chinese children with frequently relapsing nephrotic syndrome (FRNS).We investigated the efficacy and safety for treating MZR with FRNS.Furthermore,the relationship between efficacy and serum concentration was investigated.Methods A prospective multicenter observational 12-month study was performed for evaluating the usefulness of MZR with FRNS.Serum MZR concentration was measured,and the relationships between pharmacokinetic parameters (Cmax,AUC),number of relapses,and urinary protein were evaluated.Results Eighty-two pediatric patients from four hospitals were treated with MZR and prednisone.MZR treatment significantly reduced the number of relapses and steroid doses.A correlation between pharmacokinetic parameters and relapses was observed,which fits well with the sigmoidal Emax model.Even in the relationship between pharmacokinetic parameters and urinary proteins,it was recognized that there was a threshold in the pharmacokinetic parameters for the therapeutic effect similar to the results obtained with the sigmoidal Emax model.Eleven patients (13.4%) experienced mild adverse events.Conclusions MZR therapy was effective in reducing the number of relapses and steroid doses.No severe adverse reactions were observed.Therapeutically effective serum concentrations were estimated to be Cmax > about 2 μg/mL or AUC > about 10 lag h/mL.MZR and steroid treatment were effective and safe for pediatric FRNS.
文摘Background:The effects of Helicobacter pylori(H.pylori)infection on growth are a controversial issue.We investigated the effects of long-term H.pylori infection on height and weight in children.Methods:A total of 200 children of 7-18 years old suffering from dyspeptic complaints were classified into two groups:H.pylori positive and negative groups,respectively.Whether the infection was impoved was followed up while performing urea breath test,and according to exposure time to the infection,the children were further divided into group 1(≤1.5 months),group 2(>1.5-≤6 months)and group 3(>6 months).Antropometric measurements were obtained and repeated every six months.Results:Mean growth velocity scores in the H.pylori positive and negative groups were 0.49±3.85[95%confidence interval(CI):-0.21-1.18]and 1.98±4.42(95%CI:1-2.96),respectively.The difference between both groups was statistically significant(P=0.012).Mean growth velocity scores in groups 1,2 and 3 were 0.96±3.84,0.16±4.51 and-0.85±3.09,respectively.Mean growth velocity scores of group 3 were significantly lower than those of groups 0 and 1(P=0.005 and P=0.041).The mean weight scores in group 3 were similar to those in group 2,but the scores in group 3 were signifi cantly lower than those in group 1(-1.75±1.05,-1.21±1.37 and-0.88±1.49,respectively).Conclusion:As the duration of exposure is prolonged in children with H.pylori infection,the negative effect of the infection on both height and weight is evident.
基金funded by Isfahan University of Medical Sciences,as part of a national school-based surveillance program(Project code#194049).
文摘Background Chronic kidney disease(CKD)is a leading risk factor for development of cardiovascular disease(CVD).Dyslipidemia is also known as risk factor for CVD development.However,the association of dyslipidemia with glomerular injury among healthy children and adolescents remains controversial.We aimed to investigate the relationship between estimated glomerular filtration rate(eGFR)and lipid profile risk factors among healthy children and adolescents.Methods In this nationwide survey,3808 participants(1992 males,1816 females),aged 7-18 years,were selected by cluster random sampling method from 30 provinces in Iran.Body mass index(BMI)and systolic and diastolic blood pressures were measured.Blood samples were obtained for serum creatinine,fasting blood glucose,total cholesterol(TC),high-density lipoprotein cholesterol(HDL-C),low-density lipoprotein cholesterol(LDL-C),and triglyceride(TG)determinations.GFR was estimated using Schwartz equation.Results Girls had higher eGFR than boys(P=0.04).In a multiple regression analysis,eGFR demonstrated a positive correlation with systolic blood pressure,BMI,fasting glucose,TC,HDL-C,and TG.By the analysis of covariance,TC,HDL-C,and TG showed a negative correlation with eGFR after adjustments for BMI,systolic and diastolic blood pressures,and fasting glucose(OR=0.56,95%CI=0.29-0.89).Conclusion The study showed that dyslipidemia is associated with reduced eGFR among the healthy children and adolescents.