Evaluation of thyroid profile among children aged 1-15 years with nephrotic syndrome:An observation study

BACKGROUND The interaction between the kidney and the thyroid is important for normal function of both organs.In nephrotic syndrome,proteinuria leads to loss of several proteins,which in turn causes hypothyroidism.AIM To assess the thyroid function in children with nephrotic syndrome.METHODS This cross-sectional study was conducted in a tertiary center,Bhopal,from February 2020 to January 2021.Consecutive children aged 1-15 years admitted with nephrotic syndrome(first-time diagnosed and all relapse cases)were included in the study.A thyroid profile was sent along with routine investigations,and thyroid hormone status was assessed in nephrotic syndrome children.RESULTS Of the 70 patients,39(55.7%)showed abnormal thyroid profiles;19(27.1%)had overt hypothyroidism,and 20(28.6%)had subclinical hypothyroidism.Overt hypothyroidism was seen in 16.1%of newly diagnosed cases,40%of second relapses,and 2.7%of frequently relapsed cases(P<0.001).The mean serum free T3 and free T4 levels in frequent relapses were 2.50±0.39 ng/dL and 0.78±0.12 ng/dL,respectively,which were significantly lower than in newly diagnosed cases(2.77±0.37 ng/dL and 0.91±0.19 ng/dL,respectively).The mean thyroidstimulating hormone(TSH)level was significantly higher in frequent relapses (5.86±1.56μIU/mL)and second relapse(5.81±1.78μIU/mL)than in newly diagnosed cases(4.83±0.76μIU/mL)and first relapse cases(4.74±1.17μIU/mL),(P<0.01).CONCLUSION An abnormal thyroid profile was commonly observed in children with nephrotic syndrome,and overt hypothyroidism was more common in frequent relapse cases.Therefore,thyroid screening should be a part of the management of nephrotic syndrome so that hypothyroidism can be detected and managed at an early stage.

HDR syndrome presented with nephrotic syndrome in a Chinese boy: A case report

BACKGROUND HDR syndrome is a rare genetic disease caused by variants in the GATA3 gene and is phenotypically defined by the triad of hypoparathyroidism(H),deafness(D),and renal disease(R).Renal disorders of HDR are mainly developmental ab-normalities,although renal functional abnormalities can also be observed.Ne-phrotic syndrome or nephrotic-level proteinuria is rare in HDR syndrome.Here,we report a Chinese infant with HDR syndrome who presented with early-onset nephrotic syndrome.We suggest that variants in the GATA3 gene might be asso-ciated with nephrotic syndrome.(p.Pro235 Leu),in exon 3 of the GATA3 gene.CONCLUSION We report an infant with HDR syndrome who presented with early-onset nephrotic syndrome in China.We suggest that variants in the GATA3 gene might be associated with infant-onset nephrotic syndrome.

Pediatric Nephrotic Syndrome in a Cameroonian Cohorte: The Beast to Slaughter

Background: Idiopathic nephrotic syndrome (INS) is a frequent pathology in children. There is little data on the future of NS in children in sub-Saharan Africa, particularly Cameroon. The aim of our study is to report the prognosis of children treated for nephrotic syndrome in the city of Yaoundé. Method: This was an analytical cross-sectional study with retrospective collection in 4 reference hospitals in the Cameroonian capital over a period of five years from January 1, 2018 to December 31, 2022. We included all medical records of patients treated for idiopathic INS. We excluded incomplete records and those with a history of chronic kidney disease. The sociodemographic, clinical, paraclinical, and therapeutic data, as well as the short-term evolution were collected in the files. Data was analysed using the software statistical package for social sciences version 25.0. Statistical significance was set at a p-value Results: A total of 131 children (58% boys) were included in our study over a period of 5 years. The median age was 8 [6 - 11] years. Median proteinuria was 5 g/24h [3 - 8.4], median serum protein was 39 [34 - 46] g/l and median estimated glomerular filtration rate was 130.36 [68 - 174.6] ml/min/1.73m2. During steroid therapy, 45.07% were in partial remission at 2 months, 16.9% were in complete remission at 4 and 6 months, and 37.25% had relapsed. Steroid sensitivity was reported in 28.17% of cases, steroid resistance in 64.78% of cases and steroid dependent in 7.04% of cases. The mortality rate was 12.97%. Survival time averaged 48.2 months, with an overall crude survival rate of 99.2% at 3 and 6 months and 98.4% at 1 year. Regarding renal survival, renal function was impaired in 8.33% of patients at 6 months and 9% at 12 months. Conclusion: Idiopathic nephrotic syndrome is a common disease in children. Its evolution depends on corticosteroid therapy. The long-term prognosis is dominated by the risk of progression to end-stage kidney disease or even death. Rigorous and affordable follow-up is essential to reduce the number of patients lost to follow-up and the occurrence of complications.

Study of the Effects of Glucocorticoid on Growth and Adult Final Height in Children with Primary Nephrotic Syndrome

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.

Pathological and Etiological Aspects of Nephrotic Syndrome at the Niamey General Reference Hospital

Introduction: Studies have been conducted on nephrotic syndrome in Niger. The study aimed to determine the histological and etiological aspects of nephrotic syndrome. Patients and Method: This was a retrospective study from February 1st, 2018 to January 31st, 2024. All patients with nephrotic syndrome who underwent renal biopsy were included. Samples were analyzed at the anatomy-cytology pathology laboratory of the Faculty of Medicine in Dakar (Senegal). The variables studied included clinical, biological, histological and etiological characteristics. Data were analyzed using Excel 2013 and Epi-info 7.2.0 software. Results: The study included 119 patients with nephrotic syndrome. Prevalence of nephrotic syndrome was 11.24%. The male-to-female ratio was 2.25:1. The mean age at diagnosis was between 34.5 ± 18.84 years. Edema was the reason for admission in 40.34% of cases. The nephrotic syndrome was impure in 63.86% of cases. Nine histological lesions were identified. Focal and segmental glomerulosclerosis (40.09%), minimal change disease (23.53%), membranous nephropathy (13.45%), diabetic nephropathy (10.92%), membranous proliferative glomerulonephritis (3.36%), acute glomerulonephritis (3.36%), glomerular thrombotic microangiopathy (2.52%), non-IgA mesengial proliferative glomerulonephritis (1.68%) and amyloidosis (0.84%). Nephrotic syndrome was primary in 57.98% of cases. Secondary etiologies were dominated by diabetes (11.76%), followed by hepatitis B virus (9.24%), lupus, lymphoma, malaria, syphilis, cryoglobulinemia, sickle cell disease and HIV. Conclusion: Future studies should investigate the causes of glomerulopathy secondary to chronic tubulointerstitial lesions.

Uncharted Territory: Frequent Relapsing, Steroid Sensitive Secondary Minimal Change Nephrotic Syndrome Cause by Solid Tumor of the Gastro-Esophageal Junction —(Case Presentation and Review of the Literature)

We reported a biopsy proved case of minimal change nephrotic syndrome in a 72-year-old patient. The minimal change nephrotic syndrome has been steroid sensitive, but the patient had 7 relapses over a span of 5 years. Each time the dose of steroid is tapered, a relapse of the nephrotic syndrome occurred. Eventually, the patient was complaining of dysphagia and difficulty swallowing. Hospital work-up with barium swallow, endoscopy, and CT of the chest, abdomen and pelvis, revealed a focal stenotic lesion with mild to moderate esophageal dysmotility 7/15/2022. A diagnosis of an ulcerating lesion with biopsy confirmed a neuro-endocrine carcinoma of the gastro-esophageal junction was entertained. The CT of the chest/abdomen/pelvis, 7/19/2022, has shown, an esophageal mass of 5.1 × 5.6 × 7 cm of the gastro-esophageal junction with ulceration. No evidence of spread beyond the esophagus and stomach. The histology revealed a poorly differentiated neuroendocrine tumor of the gastro-esophageal junction. The patient underwent several rounds of chemotherapy, radiation, and surgery culminating in tumor control. His nephrotic syndrome was resolved after the tumor has been controlled by surgery and chemotherapy.

Pulmonary hypertension,nephrotic syndrome,and polymyositis due to hepatitis C virus infection:A case report

BACKGROUND Hepatitis C infection not only damages the liver but also often accompanies many extrahepatic manifestations.Incidences of pulmonary hypertension(PH)caused by hepatitis C are rare,and incidences of concurrent nephrotic syndrome and polymyositis are even rarer.CASE SUMMARY Herein we describe the case of a 57-year-old woman who was admitted to our department for intermittent chest tightness upon exertion for 5 years,aggravated with dyspnea for 10 d.After relevant examinations she was diagnosed with PH,nephrotic syndrome,and polymyositis due to chronic hepatitis C infection.A multi-disciplinary recommendation was that the patient should be treated with sildenafil and macitentan in combination and methylprednisolone.During treatment autoimmune symptoms,liver function,hepatitis C RNA levels,and cardiac parameters of right heart catheterization were monitored closely.The patient showed significant improvement in 6-min walking distance from 100 to 300 m at 3-mo follow-up and pulmonary artery pressure drops to 50 mmHg.Long-term follow-up is needed to confirm further efficacy and safety.CONCLUSION Increasing evidence supports a relationship between hepatitis C infection and diverse extrahepatic manifestations,but it is very rare to have PH,nephrotic syndrome,and polymyositis in a single patient.We conducted a literature review on the management of several specific extrahepatic manifestations of hepatitis C.

Correlation between Toll-like Receptor Gene Polymorphisms and Idiopathic Nephrotic Syndrome in Chinese Children

Objective Idiopathic nephrotic syndrome(INS)is the most common glomerular disease in children.Toll-like receptors(TLRs)have been reported to be associated with response to steroid treatment in children with INS.Nevertheless,the correlation between TLR genes and the progression of INS has not yet been clarified.The present study aimed to investigate the association of single-nucleotide polymorphisms(SNPs)in TLR2,TLR4,and TLR9 with susceptibility to INS as well as the clinical phenotyping of steroid responsiveness in Chinese children with INS.Methods A total of 183 pediatric inpatients with INS were included and given standard steroid therapy.Based on their clinical response to steroids,the patients were classified into three groups:steroid-sensitive nephrotic syndrome(SSNS),steroid-dependent nephrotic syndrome(SDNS),and steroid-resistant nephrotic syndrome(SRNS).A total of 100 healthy children were employed as controls.The blood genome DNA was extracted from each participant.Six SNPs(rs11536889,rs1927914,rs7869402,rs11536891,rs352140,and rs3804099)in TLR2,TLR4,and TLR9 were selected and detected by multiplex polymerase chain reaction with next-generation sequencing to assess TLR gene polymorphisms.Results Among the 183 patients with INS,89(48.6%)had SSNS,73(39.9%)had SDNS,and 21(11.5%)had SRNS.No significant difference was found in the genotype distribution between healthy children and patients with INS.However,the genotype and allele frequencies of TLR4 rs7869402 were significantly different between SRNS and SSNS.Compared with patients with the C allele and CC genotype,patients with the T allele and CT genotype had an increased risk of SRNS.Conclusion TLR4 rs7869402 affected the steroid response in Chinese children with INS.It might be a predictor for the early detection of SRNS in this population.

Primary membranous nephrotic syndrome with chylothorax as first presentation:A case report and literature review

BACKGROUND Primary membranous nephrotic syndrome with chylothorax as the first manifestation is an unusual condition.To date,only a few cases have been reported in clinical practice.CASE SUMMARY The clinical data of a 48-year-old man with primary nephrotic syndrome combined with chylothorax admitted to the Department of Respiratory and Critical Care Medicine of Shaanxi Provincial People's Hospital were retrospec-tively analysed.The patient was admitted to the hospital for 12 d due to shortness of breath.Imaging showed pleural effusion,laboratory tests confirmed true chylothorax,and renal biopsy revealed membranous nephropathy.After primary disease treatment and early active symptom treatment,the prognosis of the patient was good.This case suggests that chylothorax is a rare complication of primary membranous nephrotic syndrome in adults,and early lymphan-giography and renal biopsy can assist in the diagnosis when there are no contrain-dications.CONCLUSION Primary membranous nephrotic syndrome combined with chylothorax is rare in clinical practice.We report a relevant case to provide case information for clinicians and to improve diagnosis and treatment.

Prevalence of non-alcoholic fatty liver disease in patients with nephrotic syndrome:A population-based study

BACKGROUND Non-alcoholic fatty liver disease(NAFLD) is a global health concern with a prevalence of about 25% amongst United States adults. Its increased prevalence is attributed to increase in patients with obesity and metabolic syndrome, partly due to similar mechanisms of injury. Nephrotic syndrome(NS) is a clinical entity resulting from extensive proteinuria leading to hypoalbuminemia, hyperlipidemia, edema, and other complications. Given its association with hyperlipidemia, there is concern that patients with NS may be at increased risk of NAFLD.AIM To perform a cross-sectional population-based study to investigate the prevalence and risk factors of NAFLD in patients with NS.METHODS A large multicenter database(Explorys Inc., Cleveland, OH, United States) was utilized for this retrospective cohort study. A cohort of 49700 patients with a diagnosis of “Non-Alcoholic fatty liver disease” using the Systematized Nomenclature of Medicine-Clinical Terms(SNOMED-CT) between 1999-2022 was identified. Inclusion criteria were age ≥ 18 years, presence of NAFLD, presence of NS. There were no specific exclusion criteria. Univariate and multivariate analysis were performed to adjust for multiple risk factors including age, gender, Caucasian race, NS, type Ⅱ diabetes mellitus, hypothyroidism, dyslipidemia, obesity, metabolic syndrome and chronic kidney disease. Statistical analysis was conducted using R, and for all analyses, a 2-sided P value of < 0.05 was considered statistically significant.RESULTS Among the 78734750 individuals screened in this database, there were a total of 49700 subjects with NAFLD. In univariate analysis, the odds of having NAFLD in patients with NS, type 2 diabetes mellitus, hypothyroidism, dyslipidemia, obesity, metabolic syndrome and chronic kidney disease were 14.84 [95% confidence interval(95%CI) 13.67-16.10], 17.05(95%CI 16.78-17.32), 6.99(95%CI 6.87-7.11), 13.61(95%CI 13.38-13.84), 19.19(95%CI 18.89-19.50), 29.09(95%CI 28.26--29.95), and 9.05(95%CI 8.88-9.22), respectively. In multivariate analysis, the odds of having NAFLD amongst patients with NS were increased to 1.85(95%Cl 1.70-2.02), while the odds were also remained high in patients that have type 2 diabetes mellitus [odds ratio(OR) 3.84], hypothyroidism(OR 1.57), obesity(OR 5.10), hyperlipidemia(OR 3.09), metabolic syndrome(OR 3.42) and chronic kidney disease(OR 1.33).CONCLUSION Patients with NS are frequently found to have NAFLD, even when adjusting for common risk factors. Hence, clinicians should maintain a high index of suspicion regarding presence of NAFLD in patients with NS.

Molecular Mechanism of Ginseng in Treating Nephrotic Syndrome Based on Network Pharmacology and Experimental Verification

[Objectives]To study the potential molecular mechanism of ginseng in treating nephrotic syndrome(NS)by using network pharmacology,molecular docking and experimental verification methods.[Methods]The active components and targets of ginseng were obtained through the network pharmacology database,and the potential targets for the treatment of NS were predicted.The STRING data platform and Cytoscape software were used to construct protein interaction network,and carry out GO and KEGG enrichment analysis.Molecular docking of active components of ginseng and core targets was performed.The in vitro experiment verified the improvement effect of kaempferol,a key active ingredient of ginseng,on podocyte injury.[Results]After screening,17 active components of ginseng and 38 key targets for treating NS were obtained.GO and KEGG enrichment analysis showed that NF-κB,MAPK and other inflammatory pathways were involved.Molecular docking results show that the core components had good binding activity to key targets.The results of in vitro experiments show that kaempferol can reduce the phosphorylation level of AKT1,down-regulate the expression levels of NF-κB p65 and p-NF-κB p65,play an anti-inflammatory effect by inhibiting the activation of NF-κB pathway,and improve podocyte injury.[Conclusions]Ginseng may play a role in the treatment of NS by regulating multiple targets and pathways such as inflammatory response,substance metabolism,and signal transduction.

Effects of Wuling Powder Mediating Notch Pathway on Mice with Nephrotic Syndrome

[Objectives]This study was conducted to investigate the renal protective effects of Wuling Powder on mice with nephrotic syndrome(NS)based on Notch pathway.[Methods]Sixty KM mice were randomly divided into normal group,model group,prednisone acetate positive group,high-dose Wuling Powder group,medium-dose Wuling Power group and low-dose Wuling Power group,with 10 mice in each group.Three days after prophylactic administration,a comprehensive nephropathy model was prepared by injecting 1 mg/ml doxorubicin hydrochloride solution(7.5 mg/kg)into the tail vein.After successful modeling,prednisone acetate and Wuling SAN were given high,medium and low doses for intervention for 28 d,respectively.After that,urinary protein and creatinine contents of mice in each group were detected,and pathological damage of renal tissue was observed by HE and Masson staining.The mRNA levels of Notch1,Jagged1 and Hes1 in mouse kidney tissues were detected by RT-PCR,and the expression levels of Notch1,Jagged1 and Hes1 proteins were detected by Western blot.[Results]Wuling Powder could effectively reduce the contents of urine protein(P<0.01)and Scr(P<0.01)in NS mice,and alleviate the pathological injury of kidney.Compared with the model group,the prednisone acetate group and various Wuling Powder groups could down-regulate the expressions of Notch1,Jagged1 and Hes1 mRNA in the kidney tissue of mice(P<0.01),and the expression of Notch1 protein in the renal tissue of mice decreased(P<0.01).The contents of Hes1 in the prednisone acetate group and the high-and medium-dose Wuling Powder groups significantly decreased(P<0.05).[Conclusions]Wuling Powder could protect the kidneys in mice with NS through Notch pathway.

Factors influencing Medication Literacy in Chinese Children with Nephrotic Syndrome: insights from the MLS-22 scale

Background:The role of the patient’s medication literacy is crucial in ensuring the efficacy of the treatment for nephrotic syndrome(NS).It is imperative to identify and examine instances of inadequate medication literacy in order to effectively manage NS.This study aimed to detect the low medication literacy in Chinese NS children using the 22-item Medication Literacy Scale(MLS-22)and to further analyze its influencing factors.Methods:This study involved consecutive sampling of 157 Chinese children with NS.Interviewer-led questionnaires were used to collect data.Firstly,the MLS-22 was evaluated for reliability and validity.Secondly,the medication literacy level was assessed,and factors related to low scores were examined using a multivariate logistic regression model.Results:MLS-22 proved reliable and valid for detection at a low level in NS children.The tertile was divided into low-level and medium/high-level medication literacy.It was found that the scores of NS children averaged 13.06.Multivariate logistic regression analysis revealed that parents of children with primary NS and congenital NS had lower medication literacy scores,which were related to parents with less than high school education.Conclusions:Healthcare providers should develop tailored strategies to effectively assist Chinese children with limited medication literacy in managing chronic diseases.

The treatment of relapsing primary nephrotic syndrome in children

Objective: To explore better therapy and reduce the rate of re-relapse of primary nephritic syndrome in children who had been treated with corticosteroids but relapsed. Methods: Eighty relapsers were enrolled from Jan. 1994 to Apr. 2000, who were randomly divided into two groups. The treatment group (n=39) had been treated with tripterysium glucosides for three months,with the control group (n=41) members were treated with cyclophosphmide (CTX) by intermission intravenous pulse, with total dose of CTX not being more than 150 mg/kg. Prednisone, meanwhile, was given to both groups. The total treatment period of prednisone was prolonged by 12-18 months. Results: After following up for 3-7 years, the re-relapse rates of both groups were observed. The re-relapse rate of the treatment group was 28.2% to 29.3% in the CTX-controlled group. The re-relapse rates between two groups were almost similar, and with no observed significant difference (P>0.05). The side effect of tripterysium glucosides was less than that of CTX. Conclusion: For the treatment of relapsing nephritic syndrome in children, the combination of tripterysium glucosides and prolonged corticosteroid therapy is as effective as the regimen of CTX plus prolonged use of prednisone.

Clinical Study of Gushen Tablet(固肾片)in Reducing Children's Nephrotic Syndrome Relapse

Objective:To explore the effect of Gushen tablet (固肾片,GST) in reducing the relapse of children's nephrotic syndrome and the possible mechanism of drugs used. Methods: Fifty children with primary nephrotic syndrome who had been induced and alleviated with regular glucocorticoid (GC) were randomly divided into two groups: the GST group used GST and standard middle-long term course of GC, and the control group adopted standard middle-long term course of GC and immunoinhibitory or immuno-modulatory agents for treatment. The 0.5,1 and 2 years after the treatment the relapse episodes, time for urinary protein negative conversion after relapse, the episodes of patient's infection and relapse after infection were evaluated. Before and after treatment the plasma cortisol and T lymphocyte subpopulation were determined. Results: The relapse rate of GST group: the rates after 0. 5, 1, 2 years were 20.0%, 30. 0% and 40. 9%, and the frequent relapse rate were 0, 6. 7% and 9. 2% respectively, which were lower than those of control group (60. 0%, 70. 0%, 69. 2% and 25. 0%, 15. 0%, 15. 4% respectively) ; in the GST group no relapse occurred within 0. 5 year, the relapse rate after 1 and 2 years reduced by 40. 0% and 28. 3%, compared with those of the control group (all P<0. 05) ; during the observation period, the mean infection/every child patient was 1. 86 episodes in GST group, after infection the nephrotic relapse rate was 28.3%, which was lower than that of the control group (2. 25 episodes, 71.1%, P<0. 05) > the relapse per patient in GST group was 0. 8 episodes, time for urinary protein negative conversion was 12. 00± 8. 98 days, lower than those of control group (1. 6 episodes, 20. 75±11. 95 days, P<0. 05) ; 3 months after GST treatment the plasma cortisol level normalized, and the CD4/CD8 ratio elevated (P<0. 05). Conclusion:GST could possibly reduce the relapse of children nephrosis, and the frequent relapse and relapse episodes, and the time for post-relaptic urinary protein negative conversion shortened, the plasma cortisol elevated, and the adjustment of cellular immunity disturbance promoted.

Pseudothrombus deposition accompanied with minimal change nephrotic syndrome and chronic kidney disease in a patient with Waldenstrom’s macroglobulinemia: A case report

BACKGROUND Waldenstr?m’s macroglobulinemia(WM) is a rare lymphoid neoplasia, which can have renal complications. These rarely occur, and most common renal manifestations are mild proteinuria and microscopic hematuria. Herein we describe a case of WM that presented with pseudothrombi depositing in capillaries associated with minimal change nephrotic syndrome and chronic kidney disease(CKD).CASE SUMMARY A 52-year-old man presented with features suggesting nephrotic syndrome.Extensive workups were done, and there were elevated serum levels of interleukin-6 and vascular endothelial growth factor(VEGF), capillary pseudothrombus accumulation associated with minimal change nephrotic syndrome, CKD, and WM. Treatment was directed at the patient’s WM with bortezomib, thalidomide, and dexamethasone whereby serum immunoglobulin M(IgM) decreased. The damage of IgM on the kidney was corrected; thus, the patient’s proteinuria and serum creatinine had improved. The patient is still under clinical follow-up.CONCLUSION It is essential for clinicians to promptly pay more attention to patients presenting with features of nephrotic syndrome and do extensive workups to come up with a proper therapy strategy.

Long-term Effect of TCM Decoctions in Treatment of Nephrotic Syndrome

Fifty-seven cases of nephrotic syndrome were treated with TCM decoctions as accessory treatment for prednisone and cyclophosphamide, and the effects were observed in a follow-up period of 5-15 years. The long-term complete remission rate of 68.4% and recurrence rate of 26.3% in the treatment group were respectively higher and lower than those in the control group (P

Crumbs homolog 2 mutation in two siblings with steroid-resistant nephrotic syndrome:Two case reports

BACKGROUND Crumbs homolog 2(CRB2)is a recently discovered gene that is closely related to the maintenance of normal polarity in podocytes;mutations can directly lead to steroid-resistant nephrotic syndrome(SRNS).However,the characteristics of nephrotic syndrome(NS)caused by CRB2 mutations have not been described.CASE SUMMARY We report a novel compound heterozygous mutation of the CRB2 gene in two siblings with SRNS.The two siblings had edema,proteinuria,hypoproteinemia and hyperlipidemia.Both their father and mother had normal phenotypes(no history of NS).Whole exon sequencing(WES)of the family showed a novel compound heterozygous mutation,c.2290(exon 8)C>T and c.3613(exon 12)G>A.Glucocorticoid therapy(methylprednisolone pulse therapy or oral prednisone)and immunosuppressive agents(tacrolimus)had no effect.During a 3-year follow-up after genetic diagnosis by WES,proteinuria persisted,but the patient was healthy.CONCLUSION CRB2 mutations related to SRNS often occur in exons 7,10,and 12.Clinical manifestations of SRNS caused by CRB2 mutations are often less severe than in other forms of SRNS.

Yellow nail syndrome accompanied by minimal-change nephrotic syndrome:A case report

BACKGROUND In most cases of yellow nail syndrome(YNS),the classic triad of yellow nails,lymphedema and respiratory manifestations rarely manifest simultaneously.Therefore,diagnosis is delayed or frequently missed.CASE SUMMARY We report a 62-year-old YNS patient presenting with bilateral pleural,pericardial and peritoneal effusions who,2 mo later,developed minimal-change nephrotic syndrome.After treatment with vitamin E,clarithromycin and prednisone for 3 mo,effusions in the chest,pericardium and abdominal cavity decreased while urine protein levels returned to within normal ranges.CONCLUSION Clinicians should consider the possibility of YNS for patients presenting with multiple serous effusions and nephrotic syndromes.

Reversible Posterior Leukoencephalopathy Syndrome in Children with Nephrotic Syndrome:a Case Report

REVERSIBLE posterior leukoencephalopathy syn- drome （RPLS） is a rare neurological syndrome charac- terized by headache, altered mental status, seizures, and visual disturbance,associated with reversible white matter cnanges,- n been commonly reported in patients with severe hypertension and pre-eclampsia. Here we report a case with nephrotic syndrome complicated by RPLS.