Identification of novel PKD1 and PKD2 mutations in Korean patients with autosomal dominant polycystic kidney disease

Choi, Rihwa; Park, Hayne Cho; Lee, Kyung-Hoon; Lee, Myoung Gun; Kim, Jong Won; Ki, Chang Seok; Hwang, Young Hwan; Ahn, Curie

doi:10.1186/s12881-014-0129-y

Cited by 16 publications

(19 citation statements)

References 30 publications

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“…Given the reduced cost of gene sequencing, such as targeted NGS, and the increasing number ADPKD patients whose phenotype is known, bringing PKD mutation types to clinical practice will likely reduce the economic cost of disease and reduce monitoring in patients destined to be symptom free while proactively increasing preventive monitoring for patients at high risk for progressive renal disease. In addition, defining the genetic mutation in ADPKD will better define the appropriate patient population for randomized clinical trials and develop new rationales for treatment using the molecular information obtained from locus and mutation detection810111213141516171819202122232425262728.…”

Section: Discussionmentioning

confidence: 99%

System analysis of gene mutations and clinical phenotype in Chinese patients with autosomal-dominant polycystic kidney disease

Jin

Chen

Liao

et al. 2016

Sci Rep

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Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disorder mainly caused by mutation in PKD1/PKD2. However, ethnic differences in mutations, the association between mutation genotype/clinical phenotype, and the clinical applicable value of mutation detection are poorly understood. We made systematically analysis of Chinese ADPKD patients based on a next-generation sequencing platform. Among 148 ADPKD patients enrolled, 108 mutations were detected in 127 patients (85.8%). Compared with mutations in Caucasian published previously, the PKD2 mutation detection rate was lower, and patients carrying the PKD2 mutation invariably carried the PKD1 mutation. The definite pathogenic mutation detection rate was lower, whereas the multiple mutations detection rate was higher in Chinese patients. Then, we correlated PKD1/PKD2 mutation data and clinical data: patients with mutation exhibited a more severe phenotype; patients with >1 mutations exhibited a more severe phenotype; patients with pathogenic mutations exhibited a more severe phenotype. Thus, the PKD1/PKD2 mutation status differed by ethnicity, and the PKD1/PKD2 genotype may affect the clinical phenotype of ADPKD. Furthermore, it makes sense to detect PKD1/PKD2 mutation status for early diagnosis and prognosis, perhaps as early as the embryo/zygote stage, to facilitate early clinical intervention and family planning.

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Section: Discussionmentioning

confidence: 99%

System analysis of gene mutations and clinical phenotype in Chinese patients with autosomal-dominant polycystic kidney disease

Jin

Chen

Liao

et al. 2016

Sci Rep

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“…These studies [13][14][15][16][17][18] further promoted the gene diagnosis technology development and progress of ADPKD. Thus, more and more studies about gene diagnosis of ADPKD provide more possibility for us to the early diagnosis of ADPKD.…”

Section: Discussionmentioning

confidence: 99%

Analysis of gene mutations in PKD1/PKD2 by multiplex ligation-dependent probe amplification: some new findings

Qian

et al. 2015

Renal Failure

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Autosomal dominant polycystic kidney disease (ADPKD) is a serious genetic disorder that can lead to chronic renal disease. Protein dysfunction caused by mutations in the genes polycystic kidney disease 1 (PKD1) and polycystic kidney disease 2 (PKD2) is an important factor in the pathogenesis of ADPKD. In the present study, 30 Chinese patients with confirmed diagnosis of ADPKD, based on ultrasound or computerized tomography (CT) findings were selected, and the exon copy numbers of PKD1 and PKD2 were determined using multiplex ligation-dependent probe amplification (MLPA). MLPA identified exon deletion in 1 case, suspected exon deletion in 4 cases, and suspected duplications in 3 cases. One case of suspected exon deletion was confirmed using quantitative real-time polymerase chain reaction (q-PCR) and sequencing (PKD2 exon 8). A missense mutation was observed in 1 case of exon deletion using q-PCR and sequencing (PKD1 exon 40, c.11333 C4A). The cases of suspected duplications were verified by q-PCR, and the copy number of exon 6 of PKD1 in 1 case of suspected duplication was 3.8 times greater than that in normal controls. Our findings provide new insights into ADPKD screening and mark a possibly meaningful step toward improved diagnosis and treatment of patients with ADPKD.

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“…A few unique characteristics of the Asian ADPKD population have been noted in previous studies. About 50%–80% of genetic mutations in the PKD1 or PKD2 gene of the Asian population were novel compared with a previous genetic mutation database based on the Western population 6–8. In addition, differences in genetic background, race, climate, culture and lifestyle of the Asian population can also affect disease progression differently.…”

Section: Introductionmentioning

confidence: 99%

RAPID-ADPKD (Retrospective epidemiological study of Asia-Pacific patients with rapId Disease progression of Autosomal Dominant Polycystic Kidney Disease): study protocol for a multinational, retrospective cohort study

Ryu

Park

et al. 2020

BMJ Open

Self Cite

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IntroductionPatients with autosomal dominant polycystic kidney disease (ADPKD) reach end-stage renal disease in their fifth decade on average. For effective treatment and early intervention, identifying subgroups with rapid disease progression is important in ADPKD. However, there are no epidemiological data on the clinical manifestations and disease progression of patients with ADPKD from the Asia-Pacific region.Methods and analysisThe RAPID-ADPKD (Retrospective epidemiological study ofAsia-Pacific patients with rapIdDisease progression ofAutosomalDominantPolycysticKidneyDisease) study is a multinational, retrospective, observational cohort study of patients with ADPKD in the Asia-Pacific region (Australia, China, Hong Kong, South Korea, Taipei and Turkey). This study was designed to identify the clinical characteristics of patients with ADPKD with rapid disease progression. Adult patients with ADPKD diagnosed according to the unified ultrasound criteria and with an estimated glomerular filtration rate (eGFR) ≥45 mL/min/1.73 m2at baseline will be included. The cohort will include patients with ≥2 records of eGFR and at least 24 months of follow-up data. Demographic information, clinical characteristics, comorbidities, medications, eGFR, radiological findings that allow calculation of height-adjusted total kidney volume, ADPKD-related complications and the Predicting Renal Outcomes in autosomal dominant Polycystic Kidney Disease (PRO-PKD) score will be collected. Rapid progression will be defined based on the European Renal Association – European Dialysis and Transplant Association (ERA-EDTA) guideline. All other patients without any of these criteria will be classified to be of slow progression. Clinical characteristics will be compared between patients with rapid progression and those with slow progression. The incidence of complications and the effects of race and water intake on renal progression will also be analysed. The planned sample size of the cohort is 1000 patients, and data from 600 patients have been collected as of 30 May 2019.Ethics and disseminationThis study was approved or is in the process of approval by the institutional review boards at each participating centre. The results will be presented in conferences and published in a journal, presenting data on the clinical characteristics, risk factors for disease progression and patterns of complications of ADPKD in Asian populations.

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Identification of novel PKD1 and PKD2 mutations in Korean patients with autosomal dominant polycystic kidney disease

Cited by 16 publications

References 30 publications

System analysis of gene mutations and clinical phenotype in Chinese patients with autosomal-dominant polycystic kidney disease

System analysis of gene mutations and clinical phenotype in Chinese patients with autosomal-dominant polycystic kidney disease

Analysis of gene mutations in PKD1/PKD2 by multiplex ligation-dependent probe amplification: some new findings

RAPID-ADPKD (Retrospective epidemiological study of Asia-Pacific patients with rapId Disease progression of Autosomal Dominant Polycystic Kidney Disease): study protocol for a multinational, retrospective cohort study

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