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Safety and efficacy of transcatheter arterial embolization in autosomal dominant polycystic kidney patients with gross hematuria: Six case reports
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作者 Wei-Fan Sui Yun-Xin Duan +2 位作者 Jian-Yun Li Wei-Bin Shao Jian-Hua Fu 《World Journal of Clinical Cases》 SCIE 2024年第11期1954-1959,共6页
BACKGROUND To retrospectively report the safety and efficacy of renal transcatheter arterial embolization for treating autosomal dominant polycystic kidney disease(ADPKD)patients with gross hematuria.CASE SUMMARY The ... BACKGROUND To retrospectively report the safety and efficacy of renal transcatheter arterial embolization for treating autosomal dominant polycystic kidney disease(ADPKD)patients with gross hematuria.CASE SUMMARY The purpose of this study is to retrospectively report the safety and efficacy of renal transcatheter arterial embolization for treating ADPKD patients with gross hematuria.Materials and methods:During the period from January 2018 to December 2019,renal transcatheter arterial embolization was carried out on 6 patients with polycystic kidneys and gross hematuria.Renal arteriography was performed first,and then we determined the location of the hemorrhage and performed embolization under digital subtraction angiography monitoring.Improvements in routine blood test results,routine urine test results,urine color and postoperative reactions were observed and analyzed.Results:Renal transcatheter arterial embolization was successfully conducted in 6 patients.The indices of 5 patients and the color of gross hematuria improved after surgery compared with before surgery.No severe complication reactions occurred.CONCLUSION For autosomal dominant polycystic kidney syndrome patients with gross hematuria,transcatheter arterial embolization was safe and effective. 展开更多
关键词 Renal artery autosomal dominant polycystic kidney disease Gross hematuria Interventional radiology EMBOLIZATION Case report
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Tesevatinib ameliorates progression of polycystic kidney disease in rodent models of autosomal recessive polycystic kidney disease 被引量:1
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作者 William E Sweeney Philip Frost Ellis D Avner 《World Journal of Nephrology》 2017年第4期188-200,共13页
AIM To investigate the therapeutic potential of tesevatinib(TSV),a unique multi-kinase inhibitor currently in Phase Ⅱ clinical trials for autosomal dominant polycystic kidney disease(ADPKD),in well-defined rodent mod... AIM To investigate the therapeutic potential of tesevatinib(TSV),a unique multi-kinase inhibitor currently in Phase Ⅱ clinical trials for autosomal dominant polycystic kidney disease(ADPKD),in well-defined rodent models of autosomal recessive polycystic kidney disease(ARPKD).METHODS We administered TSV in daily doses of 7.5 and 15 mg/kg per day by I.P.to the well characterized bpk model of polycystic kidney disease starting at postnatal day(PN) 4 through PN21 to assess efficacy and toxicity in neonatal mice during postnatal development and still undergoing renal maturation.We administered TSV by oral gavage in the same doses to the orthologous PCK model(from PN30 to PN90) to assess efficacy and toxicity in animals where developmental processes are complete.The following parameters were assessed:Body weight,total kidney weight;kidney weight to body weight ratios;and morphometric determination of a cystic index and a measure of hepatic disease.Renal function was assessed by:Serum BUN;creatinine;and a 12 h urinary concentrating ability.Validation of reported targets including the level of angiogenesis and inhibition of angiogenesis(active VEGFR2/KDR) was assessed by Western analysis.RESULTS This study demonstrates that:(1) in vivo pharmacological inhibition of multiple kinase cascades with TSV reduced phosphorylation of key mediators of cystogenesis:EGFR,ErbB 2,c-Src and KDR;and(2) this reduction of kinase activity resulted in significant reduction of renal and biliary disease in both bpk and PCK models of ARPKD.The amelioration of disease by TSV was not associated with any apparent toxicity.CONCLUSION The data supports the hypothesis that this multi-kinase inhibitor TSV may provide an effective clinical therapy for human ARPKD. 展开更多
关键词 染色体 肾病 治疗方法 临床分析
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Exome sequencing identifies compound heterozygous PKHD1 mutations as a cause of autosomal recessive polycystic kidney disease 被引量:8
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作者 ZHANG Da LU Lin YANG Hong-bo LI Mei SUN Hao ZENG Zheng-pei LI Xin-ping XIA Wei-bo XING Xiao-ping 《Chinese Medical Journal》 SCIE CAS CSCD 2012年第14期2482-2486,共5页
Background Autosomal recessive polycystic kidney disease (ARPKD) is a rare inherited disease, which is a disorder with multiple organ involvement, mainly the kidney and liver. It is caused by mutations in the PKHD1 ... Background Autosomal recessive polycystic kidney disease (ARPKD) is a rare inherited disease, which is a disorder with multiple organ involvement, mainly the kidney and liver. It is caused by mutations in the PKHD1 gene. Here, we reported the clinical characteristics of a case with ARPKD and analyze the genetic features of this patient as well as of his father using targeted exome sequencing and Sanger sequencing. Methods Genomic DNA was extracted from peripheral blood leukocytes obtained from a patient with ARPKD. The mutations were identified using exome sequencing and confirmed by Sanger sequencing. Results The patient was diagnosed as ARPKD based on ultrasonography and abdominal computed tomography which showed polycystic changes, multiple calcinosis of both kidneys, and multiple dilated bile ducts of the liver. Compound heterozygous PKHD1 gene mutations A979G and G5935A, which lead to substitution of an asparagine for an aspartate at amino acid 327 (N327D) and a glycine for an arginine at amino acid 1979 (G1979R) respectively, were identified using targeted exome sequencing and confirmed by Sanger sequencing for the patient. In addition, the father of the patient was identified to be a carrier of heterozygous A979G mutation of this gene. Conclusions We identified that the compound heterozygous PKHD1 gene mutations are the molecular basis of the patient with ARPKD. Targeted exome sequencing is suitable for genetic diagnosis of single-gene inherited diseases like ARPKD in which the pathogenic gene is a large. 展开更多
关键词 polycystic kidney autosomal recessive PKHD1 mutation exome sequencing
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Simultaneous kidney transplantation and ipsilateral native nephrectomy in patients with autosomal dominant polycystic kidney disease 被引量:1
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作者 Rabea Ahmed Gadelkareem Amr Mostafa Abdelgawad Nasreldin Mohammed 《World Journal of Transplantation》 2022年第9期310-312,共3页
The simultaneous kidney transplantation and ipsilateral native nephrectomy for autosomal dominant polycystic kidney disease does not seem to be associated with increased rates of comorbidity and complications.This out... The simultaneous kidney transplantation and ipsilateral native nephrectomy for autosomal dominant polycystic kidney disease does not seem to be associated with increased rates of comorbidity and complications.This outcome can efficiently be achieved when the indication and surgical approach of native nephrectomy are properly justified. 展开更多
关键词 autosomal dominant polycystic kidney disease kidney transplantation Native nephrectomy Retroperitoneal approach Surgical complications
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A Presumed Synonymous Mutation of PKD2 Caused Autosomal Dominant Polycystic Kidney Disease in a Chinese Family
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作者 Lin-xia DENG Yuan YANG +3 位作者 Jing YANG Luo-wen ZHOU Kang WANG Jian-hua ZHOU 《Current Medical Science》 SCIE CAS 2021年第5期1029-1036,共8页
Objective:Autosomal dominant polycystic kidney disease(ADPKD)is mainly caused by the pathogenic mutation of PKD1 or PKD2 gene and usually affects bilateral kidneys.Synonymous mutations are generally assumed to be neut... Objective:Autosomal dominant polycystic kidney disease(ADPKD)is mainly caused by the pathogenic mutation of PKD1 or PKD2 gene and usually affects bilateral kidneys.Synonymous mutations are generally assumed to be neutral as they do not alter amino acids.Herein,we described an extremely rare ADPKD child caused by a heterozygous synonymous mutation of PKD2 gene accompanied by massive proteinuria and congenital solitary kidney.Methods:Clinical characteristics of the patients were summarized.Whole-exome sequencing was performed to screen the disease-causing gene mutation,and reverse transcription polymerase chain reaction(RT-PCR)and Sanger sequencing were applied to analyze the impact of the identified mutation on gene transcription and splicing.Results:Polycystic changes were found in the solitary kidney of a girl initially presented with nephrotic-range proteinuria.Thereafter her mother and 2 other family members were diagnosed to be ADPKD.Whole-exome sequencing of the proband identified a heterozygous synonymous mutation(c.1716G>A,p.Lys572=)located in the splicing site of exon 7 in PKD2 gene,which was co-segregated with the PKD phenotype in the family.RT-PCR and direct sequencing of amplified products revealed that this heterozygous synonymous mutation led to exon7 skipping in PKD2 gene.Conclusion:We reported an extremely rare child case of ADPKD2 in combination with solitary kidney and nephrotic-range proteinuria,and firstly confirmed the pathogenicity of a heterozygous synonymous mutation(c.1716G>A)in PKD2 gene.The results indicate that synonymous mutations should not be excluded from disease-causing if they are located in splicing site of an exon. 展开更多
关键词 autosomal dominant polycystic kidney disease CHILD PKD2 gene SPLICING synonymous mutation
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Tolvaptan ameliorated kidney function for one elderly autosomal dominant polycystic kidney disease patient: A case report
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作者 Li Zhou Yan Tian +1 位作者 Liang Ma Wen-Ge Li 《World Journal of Clinical Cases》 SCIE 2022年第31期11500-11507,共8页
BACKGROUND Polycystic kidney disease(PKD)is a genetic disorder characterized by the growth of numerous cysts within the kidneys.Disease progress of some patients often occurs at the early stage.Thus,managing and contr... BACKGROUND Polycystic kidney disease(PKD)is a genetic disorder characterized by the growth of numerous cysts within the kidneys.Disease progress of some patients often occurs at the early stage.Thus,managing and controlling disease progress is important to slow the kidney function decline especially for the patient with other disorders.CASE SUMMARY One 80-year-old male autosomal dominant polycystic kidney disease(ADPKD)patient with chronic kidney disease and other clinical disorders was treated with tolvaptan and edoxaban.Estimated glomerular filtration rate,creatinine and uric acid were monitored during the treatment.In addition,the whole exome sequencing was performed to screen ADPKD genetic variants.The kidney function decline was prevented after using tolvaptan and edoxaban treatment and in the meantime,a venous thromboembolism was removed and leg and pedal edema were alleviated.One mutation c.10102G>A/p.D3368N in the PKD1 gene was identified.CONCLUSION Tolvaptan combined with edoxaban administration could delay kidney function decline and eliminate the edema caused by the thromboembolism. 展开更多
关键词 Chronic kidney disease autosomal dominant polycystic kidney disease Deep vein thrombosis TOLVAPTAN Case report
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Successful endoscopic surgery for emphysematous pyelonephritis in a non-diabetic patient with autosomal dominant polycystic kidney disease: A case report
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作者 Yi Jiang Richard Lo +3 位作者 Zhen-Quan Lu Xiao-Bao Cheng Lin Xiong Bing-Feng Luo 《World Journal of Clinical Cases》 SCIE 2021年第12期2862-2867,共6页
BACKGROUND Emphysema pyelonephritis(EPN)is a very dangerous type of urinary tract infection.It is a lethal disease that develops rapidly and causes the patient to deteriorate rapidly,and it can easily lead to systemic... BACKGROUND Emphysema pyelonephritis(EPN)is a very dangerous type of urinary tract infection.It is a lethal disease that develops rapidly and causes the patient to deteriorate rapidly,and it can easily lead to systemic infections and even sepsis.The incidence is extremely low,and it is prevalent in patients with diabetes.We here report a case of EPN in a non-diabetic patient with autosomal dominant polycystic kidney disease(ADPKD).We share the diagnosis and treatment procedure for this extremely rare condition to make this disease easier to identify and address early.CASE SUMMARY A 47-year-old woman presented to the emergency department of our hospital with a high fever and left back pain lasting 4 d.She had a history of autosomal dominant polycystic kidney and polycystic liver.She was diagnosed with left type I EPN and her vital signs deteriorated so quickly that she underwent an emergency operation in which a D-J tube was inserted into her left ureter on the second day after admission.Two months later,she underwent a second-stage flexible ureteroscopy and lithotripsy.Despite postoperative sepsis,she finally recovered after active symptomatic support treatment and effective anti-infective treatment.CONCLUSION Although EPN is more likely to occur in diabetic patients,for non-diabetic patients with ADPKD and upper urinary tract obstruction,the disease also causes rapid deterioration.Early and accurate diagnosis and timely removal of the obstruction by invasive means may be able to save the damaged kidney and the patient’s life. 展开更多
关键词 Emphysematous pyelonephritis Necrotizing infection autosomal dominant polycystic kidney disease Flexible ureteroscopy lithotripsy Endoscopic surgery LITHOTRIPSY Case report
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Spontaneous coronary dissection should not be ignored in patients with chest pain in autosomal dominant polycystic kidney disease:A case report
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作者 Jun Qian Yan Lai +2 位作者 Li-Jun Kuang Fei Chen Xue-Bo Liu 《World Journal of Clinical Cases》 SCIE 2021年第13期3095-3101,共7页
BACKGROUND When autosomal dominant polycystic kidney disease(ADPKD)presents with acute coronary syndrome(ACS),the possibility of spontaneous coronary artery dissection(SCAD)should be highly considered.In some cases,SC... BACKGROUND When autosomal dominant polycystic kidney disease(ADPKD)presents with acute coronary syndrome(ACS),the possibility of spontaneous coronary artery dissection(SCAD)should be highly considered.In some cases,SCAD is considered an extrarenal manifestation of ADPKD depending on the pathological characteristics of the unstable arterial wall in ADPKD.CASE SUMMARY Here,we report a 46-year-old female patient with ADPKD who presented with ACS.Coronary angiography revealed no definite signs of dissection,while intravascular ultrasound revealed a proximal to distal dissection of the left circumflex.After a careful conservative medication treatment,the patient exhibited favorable prognosis.CONCLUSION In cases of ADPKD co-existing with ACS,differential diagnosis of SCAD should be considered.Moreover,when no clear dissection is found on coronary angiography,IVUS should be performed to prevent missed diagnosis. 展开更多
关键词 Spontaneous coronary artery dissection autosomal dominant polycystic kidney disease Intravascular ultrasound Case report
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Acute Effects of Tolvaptan on Renal Hemodynamics in Autosomal Dominant Polycystic Kidney Disease —A Randomized, Cross-Over, Double Blind, Placebo-Controlled Study of Renal Plasma Flow and Glomerular Filtration Rate
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作者 My Helbo Malmberg Frank Holden Mose +4 位作者 Rikke Lund Sonderbaek June Anita Ejlersen Jens Jorgen Jensen Erling Bjerregaard Pedersen Jesper Norgaard Bech 《Open Journal of Nephrology》 2019年第4期97-114,共18页
Background: Previous studies have shown that reduced renal plasma flow (RPF) may play a role in progression of renal disease in autosomal dominant polycystic kidney disease (ADPKD). Tolvaptan, a vasopressin 2 antagoni... Background: Previous studies have shown that reduced renal plasma flow (RPF) may play a role in progression of renal disease in autosomal dominant polycystic kidney disease (ADPKD). Tolvaptan, a vasopressin 2 antagonist, reduces growth of total kidney volume and slows the decrease in estimated glomerular filtration rate (eGFR) in ADPKD. The purpose of this randomized, cross-over, double-blind, placebo-controlled study was to investigate if acute tolvaptan treatment increases RPF in ADPKD patients. Methods: Eighteen ADPKD patients (chronic kidney disease stages I-III) were investigated twice (min. 10 days apart) after acute treatment with either tolvaptan 60 mg or placebo. Two hours after treatment RPF and GFR were estimated by Technetium-99m diethylenetriamine penta-acetic acid (99-mTc-DTPA) renography. During the examination day, central and brachial blood pressures (BP) were measured using Mobil-O-Graph? PWA. We also measured plasma concentrations of vasopressin (p-AVP), renin (PRC), angiotensin II (p-AngII) and aldosterone (p-Aldo), urine excretion of aquaporin 2 (u-AQP2), urine output (OU), urine osmolality (u-Osm) and fractional excretion of sodium (FENa). Results: 99-mTc-DTPA renography showed a similar RPF (673 ± 262 ml/min after tolvaptan vs. 650 ± 209 ml/min after placebo, p = 0.571) and GFR (78 ± 26 ml/min after tolvaptan vs. 79 ± 21 ml/min after placebo p = 0.774) after tolvaptan and placebo treatment. P-AVP and UO increased and u-Osm decreased after tolvaptan and remained unchanged during placebo. Systolic BP tended to decrease during renography during tolvaptan. Very small or insignificant changes were seen in PRC, p-AngII and p-Aldo. Conclusions: Acute tolvaptan treatment did not change renal hemodynamics in ADPKD. 展开更多
关键词 autosomal Dominant polycystic kidney Disease Renal Plasma Flow Glomerular Filtration Rate RENOGRAPHY Brachial Blood Pressure Central Blood Pressure VASOPRESSIN RENIN Angiotensin II ALDOSTERONE
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The Clinical Association of Autosomal Dominant Polycystic Kidney Disease and renal cell Carcinoma 被引量:1
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作者 Wesley Lane Evan Lacefield +1 位作者 Ruc Tran Werner de Riese 《Open Journal of Urology》 2011年第2期11-14,共4页
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is not currently considered to be a risk factor for renal cell carcinoma (RCC). We present data from our institution demonstrating incidence of RCC with ADPKD above... Autosomal Dominant Polycystic Kidney Disease (ADPKD) is not currently considered to be a risk factor for renal cell carcinoma (RCC). We present data from our institution demonstrating incidence of RCC with ADPKD above the incidence rate for RCC in the general population, as well as that in patients with end-stage renal disease (ESRD). The discussion relates our findings in the context of the current literature including recent case reports published in this entity. 展开更多
关键词 autosomal DOMINANT polycystic kidney Disease RENAL Cell CARCINOMA INCIDENCE
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The Association between Autosomal Dominant Polycystic Kidney Disease and Renal Cell Carcinoma
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作者 Chase C. Hansen Michael Derrick +3 位作者 Irfan Warriach James Thomas Cammack James Thomas Cammack Werner de Riese 《Open Journal of Urology》 2015年第6期84-90,共7页
Objectives: The relationship between autosomal dominant polycystic kidney disease (ADPKD) and renal cell carcinoma (RCC) is investigated to determine a link that would guide management due to elevated RCC risk. Curren... Objectives: The relationship between autosomal dominant polycystic kidney disease (ADPKD) and renal cell carcinoma (RCC) is investigated to determine a link that would guide management due to elevated RCC risk. Current literature is inconclusive on this topic. Methods: This study is a retrospective chart review of patients having undergone nephrectomy. Those with pathology and history consistent with ADPKD were reviewed for presence of RCC. Results: The review at this institution revealed RCC in 18% of ADPKD patients who underwent nephrectomy. These rates are significantly higher than those found in the general population, and even greater than those would be expected in patients suffering end-stage renal disease (ESRD). Conclusions: Due to the increased prevalence of RCC in ADPKD, clinicians managing patients with ADPKD should maintain a high index of suspicion. Our data suggest a link between ADPKD and RCC, most likely at the genetic level. In light of this, we feel that further genetic research is needed to potentially discover the link between these two disease processes. 展开更多
关键词 autosomal DOMINANT polycystic kidney CHRONIC kidney Failure Genetic Variation NEPHRECTOMY RENAL Cell Carcinoma
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A Prospective Study on Clinical Profile of Autosomal Dominant Polycystic Kidney Disease (ADPKD) in Jammu for a Period of 1 Year
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作者 Ashwani Kumar Zaffar kawoosa +3 位作者 Sajad Hamid Surendar Kumar Bali Mymoona Akhter Shahnawaz Hamid 《Open Journal of Nephrology》 2012年第4期123-135,共13页
The Present Study was conducted in department of Medicine, Govt. Medical College, jammu, Where a total of 41 patients—29 males and 12 females—fulfilled the inclusion criteria of ADPKD, were gathered during the perio... The Present Study was conducted in department of Medicine, Govt. Medical College, jammu, Where a total of 41 patients—29 males and 12 females—fulfilled the inclusion criteria of ADPKD, were gathered during the period of 1 year starting from Nov. 2011 to Oct. 2012. All the patients were subjected to a detailed history, clinical examination and laboratory investigations. X-ray chest (PA view), ECG and ultrasound of abdomen for kidneys, liver and spleen were done. Intravenous pyelogram and CT scan of abdomen was done when a definitive diagnosis of (ADPKD) could not be made on abdominal ultrasound. Echocardiography was done to evaluate cardiac murmurs and associated mitral valve prolapse, based on standard criteria. Male to female patients with ADPKD was 2.42:1. Maximum 17 (41.5%) patients of both gender were seen in 30 - 40 years age group, Family history of ADPKD was present in 18 (43.9%) patients;Hypertension, alone or in combination with renal failure, was present in 65.8% patients;Hypertension alone was present in 19 (46.3%) patients;8 (19.5%) patients with hypertension had renal failure;Low back pain was present in 24 (58.5%) and abdominal pain in 22 (53.7%) patients;15 (36.6%) patients presented with at least one episode of gross haematuria;Headache was experienced by 18 (43.9%) patients. On clinical examination, 24 (58.5%) were found to have palpable kidney and 10 (24.4%) had palpable liver. Spleen was palpable in 1 (2.4%) patient, Murmur of mitral valve prolapse was found in 2 (4.9%) Patients;3 (7.3%) patients having left ventricular hypertrophy;mean Hb was 11.2 g/dL. The liver cysts were found in 24.4% of the patients;Out of 10 (24.4%) patients with hepatic cyst involvement, 1 patient each was found to have evidence of portal hypertension and evidence of hepatic cyst infection. In the present study, hypertension was most common presentation of this disease. So, control of hypertension is very important to prevent progression of this disease. Patients who are detected to have ADPKD should be regularly followed-up to prevent further progression by timely intervention. Also, family members of patients should be screened for disease and initiate treatment as early as possible. 展开更多
关键词 autosomal DOMINANT polycystic kidney DISEASE Ronic kidney DISEASE END-STAGE Renal DISEASE
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Simultaneous nephrectomy during kidney transplantation for polycystic kidney disease does not detrimentally impact comorbidity and graft survival 被引量:2
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作者 Tom Darius Sébastien Bertoni +5 位作者 Martine De Meyer Antoine Buemi Arnaud Devresse Nada Kanaan Eric Goffin Michel Mourad 《World Journal of Transplantation》 2022年第5期100-111,共12页
BACKGROUND The lack of space,as an indication for a native unilateral nephrectomy for positioning a future kidney graft in the absence of other autosomal dominant polycystic kidney disease-related symptoms,remains con... BACKGROUND The lack of space,as an indication for a native unilateral nephrectomy for positioning a future kidney graft in the absence of other autosomal dominant polycystic kidney disease-related symptoms,remains controversial.AIM To evaluate the surgical comorbidity and the impact on graft survival of an associated ipsilateral native nephrectomy during isolated kidney transplantation in patients with autosomal dominant polycystic kidney disease.METHODS One hundred and fifty-four kidney transplantations performed between January 2007 and January 2019 of which 77 without(kidney transplant alone(KTA)group)and 77 with associated ipsilateral nephrectomy(KTIN group),were retrospectively reviewed.Demographics and surgical variables were analyzed and their respective impact on surgical comorbidity and graft survival.RESULTS Creation of space for future graft positioning was the main reason(n=74,96.1%)for associated ipsilateral nephrectomy.No significant difference in surgical comorbidity(lymphocele,wound infection,incisional hernia,wound hematoma,urinary infection,need for blood transfusion,hospitalization stay,Dindo Clavien classification and readmission rate)was observed between the two study groups.The incidence of primary nonfunction and delayed graft function was comparable in both groups[0%and 2.6%(P=0.497)and 9.1%and 16.9%(P=0.230),respectively,in the KTA and KTIN group].The 1-and 5-year graft survival were 94.8%and 90.3%,and 100%and 93.8%,respectively,in the KTA and KTIN group(P=0.774).The 1-and 5-year patient survival were 96.1%and 92.9%,and 100%and 100%,respectively,in the KTA and KTIN group(P=0.168).CONCLUSION Simultaneous ipsilateral native nephrectomy to create space for graft positioning during kidney transplantation in patients with autosomal dominant polycystic kidney disease does not negatively impact surgical comorbidity and short-and long-term graft survival. 展开更多
关键词 autosomal dominant polycystic kidney disease COMPLICATIONS kidney transplantation Graft survival Unilateral nephrectomy Surgical comorbidity
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Incidental renal cell carcinoma post bilateral nephrectomy in autosomal dominant polycystic kidney disease
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作者 Min-Ho Shin Nam-Kyu Choi 《World Journal of Clinical Cases》 SCIE 2024年第28期6187-6194,共8页
BACKGROUND Renal cell carcinoma(RCC)is more common in patients with autosomal dominant polycystic kidney disease(ADPKD)than in the general population.Diagnosing RCC in ADPKD is challenging due to the presence of multi... BACKGROUND Renal cell carcinoma(RCC)is more common in patients with autosomal dominant polycystic kidney disease(ADPKD)than in the general population.Diagnosing RCC in ADPKD is challenging due to the presence of multiple renal cysts,often leading to delays and difficulties in distinguishing RCC from cyst infection or hemorrhage.A total of 38 kidneys were excised from 19 patients,with a mean age of 56.8 years and an average hemodialysis duration of 84.2 months.Eight patients underwent open nephrectomies,and 11 underwent hand-assisted laparoscopic nephrec-tomies.RCC was detected in 15.8%of kidneys,affecting 21.1%of patients.Two patients had multifocal RCC in both kidneys.All RCC cases were pT1 stage,with the largest lesion averaging 16.5 mm in diameter.The average operative duration was 120 minutes,with intraoperative blood loss averaging 184.2 mL.Five patients required blood transfusions.Postoperative complications occurred in five patients,with a mean hospital stay of 17.1 days.The mean follow-up period was 28.1 months.CONCLUSION The prevalence of RCC is higher in patients with ADPKD with ESRD than in those with ESRD alone.Thus,clinicians should be cautious and implement surveillance programs to monitor the development of RCC in patients with ADPKD,particularly those on dialysis. 展开更多
关键词 Renal cell carcinoma autosomal dominant polycystic kidney disease End-stage renal disease kidney transplantation Nephrectomy
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Research on autosomal dominant polycystic kidney disease in China 被引量:7
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作者 DAI Bing MEI Chang-lin 《Chinese Medical Journal》 SCIE CAS CSCD 2006年第22期1915-1924,共10页
Objective To review the history and recent development of research on autosomal dominant polycystic kidney disease (ADPKD) in China. Data sources Both Chinese and English literatures were searched in MEDLINE/CD ROM ... Objective To review the history and recent development of research on autosomal dominant polycystic kidney disease (ADPKD) in China. Data sources Both Chinese and English literatures were searched in MEDLINE/CD ROM (1979 - 2006) and the Chinese Biomedical Literature Disk (1979 - 2006). Study selection Published articles about ADPKD from mainland of China were selected. Data were mainly extracted from 58 articles which are listed in the reference section of this review. Results Some preliminary reports on cyst decompression surgeries and mutation analysis represent the contribution to the ADPKD research from China in the history. A serial of basic research and clinical studies on ADPKD in recent years also have been summarized. A technique platform for ADPKD research was firstly established. The genomics/proteomics/bioinformatics approach was introduced, which provide a lot of valuable information for understanding the pathogenesis. By denature high performance liquid chromatography (DHPLC) technique the entire PKD1 and PKD2 gene sequence screening system for Chinese Han population has been successfully established. Based on the characteristic data of Chinese patients, an integrated therapy protocol was put forward and won an advantage over the traditional therapy. Some novel experimental studies on therapy also were encouraging. Condusions Remarkable progress of ADPKD research in China have been made recently. Still many works, including the government support, international collaboration and active participation of more Chinese nephrologists, should be enhanced to advance this process in the near future. 展开更多
关键词 autosomal dominant polycystic kidney disease PATHOGENESIS molecular diagnosis THERAPY
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Possible PKHD1 Hot-spot Mutations Related to Early Kidney Function Failure or Hepatofibrosis in Chinese Children with ARPKD:A Retrospective Single Center Cohort Study and Literature Review 被引量:1
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作者 Li-ru QIU Rong-rong XU +1 位作者 Jin-hui TANG Jian-hua ZHOU 《Current Medical Science》 SCIE CAS 2020年第5期835-844,共10页
PKHD1 mutations are generally considered to cause autosomal recessive polycystic kidney disease(ARPKD).ARPKD is a rare disorder and one o f the most severe conditions leading to end-stage renal disease in childhood.Wi... PKHD1 mutations are generally considered to cause autosomal recessive polycystic kidney disease(ARPKD).ARPKD is a rare disorder and one o f the most severe conditions leading to end-stage renal disease in childhood.With the biallelic deletion mutation,patients have difficulty in surviving the perinatal period,resulting in perinatal or neonatal death.This study retrospectively analyzed patient characteristics,imaging characteristics,laboratory examinations and family surveys from 7 Chinese children with different PKHD1 gene mutations diagnosed by high-throughput sequencing from January 2014 to February 2018.O f the 7 children,there were 3 males and 4 females.Eight missense mutations,two frameshift mutations,two deletion mutations,and two intronic slicing mutations were identified.Six of the mutations have not previously been identified.In the literature search,we identified a total of 29 Chinese children with PKHD1 mutations.The missense mutation c.2507T>C in exon 24 was found in one patient in our study,and five patients with liver fibrosis but normal renal function were reported in the literature.The missense mutation c.5935G>A in exon 37 was found in two patients in our study and three cases in the literature.Four patients had renal failure at an age as young as 1 year of those five patients with the missense mutation c.5935G>A in exon 37.It was concluded that:(1)Kidney length more than 2-3 SDs above the mean and early-onset hypertension might be associated with PKHDI-associated ARPICD;(2)The more enlarged the kidney size is,the lower the renal function is likely to be;(3)c.5935G>A may be a hot spot that leads to early renal failure in Chinese children with PKHD1 mutations;(4)c.2507T>C may be a hot-spot mutation associated with hepatic lesions in Chinese children with PKHD1. 展开更多
关键词 PKHD1 mutations autosomal recessive polycystic kidney disease clinical phenotype genotypic characteristics Chinese children
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Combined liver and kidney transplantation in children and long-term outcome 被引量:1
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作者 Randula Ranawaka Kavinda Dayasiri Manoji Gamage 《World Journal of Transplantation》 2020年第10期283-290,共8页
Combined liver-kidney transplantation(CLKT)is a rarely performed complex surgical procedure in children and involves transplantation of kidney and either whole or part of liver donated by the same individual(usually a... Combined liver-kidney transplantation(CLKT)is a rarely performed complex surgical procedure in children and involves transplantation of kidney and either whole or part of liver donated by the same individual(usually a cadaver)to the same recipient during a single surgical procedure.Most common indications for CLKT in children are autosomal recessive polycystic kidney disease and primary hyperoxaluria type 1.Atypical haemolytic uremic syndrome,methylmalonic academia,and conditions where liver and renal failure co-exists may be indications for CLKT.CLKT is often preferred over sequential liver-kidney transplantation due to immunoprotective effects of transplanted liver on renal allograft;however,liver survival has no significant impact.Since CLKT is a major surgical procedure which involves multiple and complex anastomosis surgeries,acute complications are not uncommon.Bleeding,thrombosis,haemodynamic instability,infections,acute cellular rejections,renal and liver dysfunction are acute complications.The long-term outlook is promising with over 80%5-year survival rates among those children who survive the initial six-month postoperative period. 展开更多
关键词 Combined liver-kidney transplantation IMMUNOPROTECTION Long-term outcomes Renal allograft survival Acute cellular rejection autosomal recessive polycystic kidney disease
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胚胎植入前遗传学检测在阻断常染色体隐性多囊肾病家系多囊肾/多囊肝病变1基因新突变遗传的应用
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作者 王凝 郝燕 +7 位作者 陈大蔚 章志国 匡丹 张清 尹奕琪 魏兆莲 周平 曹云霞 《实用医学杂志》 CAS 北大核心 2024年第7期1006-1010,共5页
目的探讨基于二代测序(NGS)技术的单核苷酸多态性(SNP)连锁分析在常染色体隐性遗传性多囊肾病(ARPKD)家系胚胎植入前遗传学检测(PGT)中的应用价值。方法选取1个ARPKD家系,女方孕期产检发现胎儿有多囊肾行引产,胎儿基因检测为多囊肾/多... 目的探讨基于二代测序(NGS)技术的单核苷酸多态性(SNP)连锁分析在常染色体隐性遗传性多囊肾病(ARPKD)家系胚胎植入前遗传学检测(PGT)中的应用价值。方法选取1个ARPKD家系,女方孕期产检发现胎儿有多囊肾行引产,胎儿基因检测为多囊肾/多囊肝病变1基因(PKHD1)复合杂合突变c.10444C>T(父源)和c.4303del(母源),其中c.4303del突变为首次报道。采用多重聚合酶链反应(PCR)和NGS在突变位点两侧2M区域内选择335个信息丰富、紧密连锁的SNP位点作为遗传连锁标记,构建夫妇双方携带基因突变的SNP风险单体型。体外受精后行囊胚培养。对活检获得的滋养层细胞进行全基因组扩增(WGA)后,采用Sanger测序直接检测PKHD1基因突变,采用基于NGS的SNP连锁分析鉴别携带突变的染色体,同时进行拷贝数变异(CNV)分析以进行低深度的染色体非整倍性筛查。结果6个活检囊胚中有4个为未携带突变的整倍体,有1个携带杂合突变的嵌合体,1个测序数据波动大,无法判断。选择其中1枚未检测到突变的优质整倍体胚胎进行冻融胚胎移植(FET),足月分娩一健康婴儿。结论应用基于NGS的SNP连锁分析进行PGT具有高效稳定的特点,可有效阻断ARPKD在家系中的垂直传递,同时可避免因妊娠非整倍体胚胎而导致的流产问题。该研究也是首次针对PKHD1基因c.4303del突变的PGT报道。 展开更多
关键词 常染色体隐性遗传性多囊肾病 多囊肾/多囊肝病变1基因 SNP连锁分析 二代测序 植入前遗传学检测
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Polycystic liver disease: Classification, diagnosis, treatment process, and clinical management 被引量:10
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作者 Ze-Yu Zhang Zhi-Ming Wang Yun Huang 《World Journal of Hepatology》 2020年第3期72-83,共12页
Polycystic liver disease(PLD)is a rare hereditary disease that independently exists in isolated PLD,or as an accompanying symptom of autosomal dominant polycystic kidney disease and autosomal recessive polycystic kidn... Polycystic liver disease(PLD)is a rare hereditary disease that independently exists in isolated PLD,or as an accompanying symptom of autosomal dominant polycystic kidney disease and autosomal recessive polycystic kidney disease with complicated mechanisms.PLD currently lacks a unified diagnostic standard.The diagnosis of PLD is usually made when the number of hepatic cysts is more than 20.Gigot classification and Schnelldorfer classification are now commonly used to define severity in PLD.Most PLD patients have no clinical symptoms,and minority with severe complications need treatments.Somatostatin analogues,mammalian target of rapamycin inhibitor,ursodeoxycholic acid and vasopressin-2 receptor antagonist are the potentially effective medical therapies,while cyst aspiration and sclerosis,transcatheter arterial embolization,fenestration,hepatic resection and liver transplantation are the options of invasion therapies.However,the effectiveness of these therapies except liver transplantation are still uncertain.Furthermore,there is no unified strategy to treat PLD between medical centers at present.In order to better understand recent study progresses on PLD for clinical practice and obtain potential directions for future researches,this review mainly focuses on the recent progress in PLD classification,clinical manifestation,diagnosis and treatment.For information,we also provided medical treatment processes of PLD in our medical center. 展开更多
关键词 polycystic LIVER DISEASE autosomal dominant polycystic kidney DISEASE autosomal recessive polycystic kidney DISEASE Isolated polycystic LIVER DISEASE DIAGNOSIS Treatment
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介绍正染色体的主导的 polycystic 肾疾病展示的尖锐腹部和腹水 被引量:3
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作者 Sanjay Chaudhary Qi Qian 《World Journal of Hepatology》 CAS 2012年第12期394-398,共5页
We describe a patient with sudden onset of abdominal pain and ascites,leading to the diagnosis of autosomal dominant polycystic kidney disease(ADPKD).Her presentation was consistent with acute liver cyst rupture as th... We describe a patient with sudden onset of abdominal pain and ascites,leading to the diagnosis of autosomal dominant polycystic kidney disease(ADPKD).Her presentation was consistent with acute liver cyst rupture as the cause of her acute illness.A review of literature on polycystic liver disease in patients with ADPKD and current management strategies are presented.This case alerts physicians that ADPKD could occasionally present as an acute abdomen;cyst rupture related to ADPKD may be considered in the differential diagnoses of acute abdomen. 展开更多
关键词 autosomal DOMINANT polycystic kidney DISEASE Acute ABDOMINAL pain ASCITES polycystic liver DISEASE
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