ArticleJournal of the American Society of Nephrology : JASN2010
Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD.
Article in Journal of the American Society of Nephrology : JASN, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 89 papers, 1 of them a synthesis that pooled it.
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Who cites it
89 citing papers in PubMed, 1 synthesis or guideline pooled it, 145 citations in OpenAlex.
- 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
- Modeling Complex Developmental Disease: The Case of Polycystic Kidney Disease.Journal of developmental biology · 2026Review
- Article
- Results of Multigene Panel Testing, IncludingKidney medicine · 2026Article
- Atypical presentations of fetal polycystic kidney disease demonstrates the utility of a genomic autopsy for accurate post-mortem diagnoses.Human genomics · 2025Article
- In vivo base editing reduces liver cysts in autosomal dominant polycystic kidney disease.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Article
- Polycystic Kidney Disease in Children: The Current Status and the Next Horizon.American journal of kidney diseases : the official journal of the National Kidney Foundation · 2025Review
- The impact of a secondary, rare, non-pathogenic PKD1 variant on disease progression in autosomal dominant polycystic kidney disease.Journal of nephrology · 2025Article
- Urinary peptide signature distinguishes autosomal recessive polycystic kidney disease from other causes of chronic kidney disease.Clinical kidney journal · 2025Article
- Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile.European journal of human genetics : EJHG · 2024Article
- Primary Cilia Elongation in Early-Onset Polycystic Kidney Disease with 2 HypomorphicKidney medicine · 2024Article
- The dominant findings of a recessive man: from Mendel's kid pea to kidney.Pediatric nephrology (Berlin, Germany) · 2024Review
- How Does ADPKD Severity Differ Between Family Members?Kidney international reports · 2024Review
- Glis2 is an early effector of polycystin signaling and a target for therapy in polycystic kidney disease.Nature communications · 2024Article
- Navigating the landscape of clinical genetic testing: insights and challenges in rare disease diagnostics.Childhood kidney diseases · 2024Review
- Genetic Spectrum of Polycystic Kidney and Liver Diseases and the Resulting Phenotypes.Advances in kidney disease and health · 2023Review
- Co-Inheritance of Pathogenic Variants inGenes · 2023Article
- Review
- Autosomal dominant polycystic kidney disease in young adults.Clinical kidney journal · 2023Article
29 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
12 authors at 5 institutions in 4 countries.
Funding
Abstract
Autosomal dominant polycystic kidney disease (ADPKD), caused by mutation in PKD1 or PKD2, is usually an adult-onset disorder but can rarely manifest as a neonatal disease within a family characterized by otherwise typical ADPKD. Coinheritance of a hypomorphic PKD1 allele in trans with an inactivating PKD1 allele is one mechanism that can cause early onset ADPKD. Here, we describe two pedigrees without a history of cystic kidney disease that each contain two patients with onset of massive PKD in utero. The presentations were typical of autosomal recessive PKD (ARPKD) but they were not linked to the known ARPKD gene, PKHD1. Mutation analysis of the ADPKD genes provided strong evidence that both families inherited, in trans, two incompletely penetrant PKD1 alleles. These patients illustrate that PKD1 mutations can manifest as a phenocopy of ARPKD with respect to renal involvement and highlight the perils of linkage-based diagnostics in ARPKD without positive PKHD1 mutation data. Furthermore, the phenotypic overlap between ARPKD and these patients resulting from incomplete penetrant PKD1 alleles support a common pathogenesis for these diseases.
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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.