ArticleJournal of the American Society of Nephrology : JASN2009
Family history of renal disease severity predicts the mutated gene in ADPKD.
Article in Journal of the American Society of Nephrology : JASN, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers, 3 of them syntheses that pooled it.
What it found
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
56 citing papers in PubMed, 3 syntheses or guidelines pooled it, 130 citations in OpenAlex.
- Pooled it
- A systematic review of the predictors of disease progression in patients with autosomal dominant polycystic kidney disease.BMC nephrology · 2015Pooled it
- Predictors of autosomal dominant polycystic kidney disease progression.Journal of the American Society of Nephrology : JASN · 2014Pooled it
- Identification of PKD1 and PKD2 gene variants in a cohort of 125 Asian Indian patients of ADPKD.Journal of human genetics · 2019Trial
- Low-dose rapamycin (sirolimus) effects in autosomal dominant polycystic kidney disease: an open-label randomized controlled pilot study.Clinical journal of the American Society of Nephrology : CJASN · 2014Trial
- Association Between Tolvaptan Exposure and Venous Thromboembolism Risk in ADPKD: A Real-World Propensity-Matched EHR Study.Nephrology (Carlton, Vic.) · 2026Article
- Targeted long-read sequencing enables higher diagnostic yield of ADPKD by accurate PKD1 genetic analysis.NPJ genomic medicine · 2025Article
- Genome-Based Advances in Modeling Renal Ciliopathies and Enhancing Patient Care.Kidney & blood pressure research · 2025Review
- Article
- Biomarkers of Kidney Disease Progression in ADPKD.Kidney international reports · 2024Review
- Kidney Measurement and Glomerular Filtration Rate Evolution in Children with Polycystic Kidney Disease.Children (Basel, Switzerland) · 2024Article
- The Efficacy, the Treatment Response and the Aquaretic Effects of a Three-Year Tolvaptan Regimen in Polycystic Kidney Disease Patients.Clinics and practice · 2023Article
- Severe parental phenotype associates with hypertension in children with ADPKD.Pediatric nephrology (Berlin, Germany) · 2023Article
- Article
- Acute renal intracystic hemorrhage in patients with autosomal dominant polycystic kidney disease.Journal of nephrology · 2023Article
- Comparative analysis of tools to predict rapid progression in autosomal dominant polycystic kidney disease.Clinical kidney journal · 2022Article
- Germline Mutations for Kidney Volume in ADPKD.Kidney international reports · 2022Article
- Shared pathobiology identifies AMPK as a therapeutic target for obesity and autosomal dominant polycystic kidney disease.Frontiers in molecular biosciences · 2022Review
- Smoking accelerates renal cystic disease and worsens cardiac phenotype in Pkd1-deficient mice.Scientific reports · 2021Article
- Mitral Valve Prolapse and Its Motley Crew-Syndromic Prevalence, Pathophysiology, and Progression of a Common Heart Condition.Journal of the American Heart Association · 2021Article
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations of PKD1 and PKD2 account for 85 and 15% of cases of autosomal dominant polycystic kidney disease (ADPKD), respectively. Clinically, PKD1 is more severe than PKD2, with a median age at ESRD of 53.4 versus 72.7 yr. In this study, we explored whether a family history of renal disease severity predicts the mutated gene in ADPKD. We examined the renal function (estimated GFR and age at ESRD) of 484 affected members from 90 families who had ADPKD and whose underlying genotype was known. We found that the presence of at least one affected family member who developed ESRD at age < or =55 was highly predictive of a PKD1 mutation (positive predictive value 100%; sensitivity 72%). In contrast, the presence of at least one affected family member who continued to have sufficient renal function or developed ESRD at age >70 was highly predictive of a PKD2 mutation (positive predictive value 100%; sensitivity 74%). These data suggest that close attention to the family history of renal disease severity in ADPKD may provide a simple means of predicting the mutated gene, which has prognostic implications.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.