ArticleJournal of the American Society of Nephrology : JASN2011
Mutations in multiple PKD genes may explain early and severe polycystic kidney disease.
Article in Journal of the American Society of Nephrology : JASN, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 127 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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
127 citing papers in PubMed, 2 syntheses or guidelines pooled it, 232 citations in OpenAlex.
- International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people.Nature reviews. Nephrology · 2019Guideline
- Clinical practice guideline monitoring children and young people with, or at risk of developing autosomal dominant polycystic kidney disease (ADPKD).BMC nephrology · 2019Guideline
- Identification of PKD1 and PKD2 gene variants in a cohort of 125 Asian Indian patients of ADPKD.Journal of human genetics · 2019Trial
- Ehlers-Danlos Syndrome Caused by Biallelic TNXB Variants in Patients with Congenital Adrenal Hyperplasia.Human mutation · 2016Trial
- Atypical Renal Hypoplasia in HNF1B-Related Disease: The Clinical Impact of Early Genetic Diagnosis.Journal of clinical medicine · 2026Article
- Review
- Modeling Complex Developmental Disease: The Case of Polycystic Kidney Disease.Journal of developmental biology · 2026Review
- HNF1B-MODY in the Norwegian MODY Registry and the Norwegian Childhood Diabetes Registry: Clinical Insights and Prevalence Informed by Genetic and Functional Evaluation.International journal of molecular sciences · 2026Article
- ift140 -Deficient Zebrafish as a Model for Kidney Cystogenesis and an F0-Based Screen for Genetic Modifiers of Kidney Cysts.Journal of the American Society of Nephrology : JASN · 2026Article
- Dual Monogenic Cystic Disease Case Report: Autosomal Dominant Polycystic Kidney Disease and Autosomal Dominant Polycystic Liver Disease.Clinical case reports · 2026Article
- Molecular impact of a novelFrontiers in endocrinology · 2026Article
- Autosomal dominant polycystic kidney disease: an overview of recent genetic and clinical advances.Renal failure · 2025Review
- The impact of a secondary, rare, non-pathogenic PKD1 variant on disease progression in autosomal dominant polycystic kidney disease.Journal of nephrology · 2025Article
- A miRNA-Based Approach in Autosomal Dominant Polycystic Kidney Disease: Challenges and Insights from Adult to Pediatric Evidence.Molecular diagnosis & therapy · 2025Review
- Matching clinical and genetic data in pediatric patients at risk of developing cystic kidney disease.Pediatric nephrology (Berlin, Germany) · 2025Article
- Circadian Clock Disruption and Growth of Kidney Cysts in Autosomal Dominant Polycystic Kidney Disease.Journal of the American Society of Nephrology : JASN · 2025Article
- Prostatic cyst in autosomal recessive polycystic kidney disease: A case presentation and literature review.Urology case reports · 2024Article
- Epidemiology and outcomes of pediatric autosomal recessive polycystic kidney disease in the Middle East and North Africa.Pediatric nephrology (Berlin, Germany) · 2024Review
- How Does ADPKD Severity Differ Between Family Members?Kidney international reports · 2024Review
- Simultaneous Pancreatic and Kidney Transplant in Adult with Autosomal Dominant Polycystic Kidney Disease and Type I Diabetes Mellitus: Post Surgical Events and Genetic Review.Oman medical journal · 2024Article
67 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
20 authors at 10 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autosomal dominant polycystic kidney disease (ADPKD) is typically a late-onset disease caused by mutations in PKD1 or PKD2, but about 2% of patients with ADPKD show an early and severe phenotype that can be clinically indistinguishable from autosomal recessive polycystic kidney disease (ARPKD). The high recurrence risk in pedigrees with early and severe PKD strongly suggests a common familial modifying background, but the mechanisms underlying the extensive phenotypic variability observed among affected family members remain unknown. Here, we describe severely affected patients with PKD who carry, in addition to their expected familial germ-line defect, additional mutations in PKD genes, including HNF-1β, which likely aggravate the phenotype. Our findings are consistent with a common pathogenesis and dosage theory for PKD and may propose a general concept for the modification of disease expression in other so-called monogenic disorders.
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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.