ArticleJournal of the American Society of Nephrology : JASN2016
Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease.
Article in Journal of the American Society of Nephrology : JASN, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers, 2 of them syntheses that pooled it.
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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
51 citing papers in PubMed, 2 syntheses or guidelines pooled it, 83 citations in OpenAlex.
- Pooled it
- International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people.Nature reviews. Nephrology · 2019Guideline
- 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
- The Important Role of Polycystin in the Skeletal System.Calcified tissue international · 2026Review
- Genetic testing in autosomal dominant polycystic kidney disease: why it matters in 2025.Clinical kidney journal · 2025Article
- A novel PKD1 variant in a patient with very-early-onset ADPKD.Human genome variation · 2025Article
- The impact of a secondary, rare, non-pathogenic PKD1 variant on disease progression in autosomal dominant polycystic kidney disease.Journal of nephrology · 2025Article
- Prenatal Diagnosis of Autosomal Dominant Polycystic Kidney Disease: Case Report.Reports (MDPI) · 2025Article
- Metformin Use and Clinical Outcomes in Autosomal Dominant Polycystic Kidney Disease: A Nationwide Cohort Study.Biomedicines · 2025Article
- Overview of clinical status, treatment, and long-term outcomes of pediatric autosomal-dominant polycystic kidney disease: a nationwide survey in Taiwan.Scientific reports · 2024Article
- How Does ADPKD Severity Differ Between Family Members?Kidney international reports · 2024Review
- Clinical Utility of Genetic Testing with Geographical Locations in ADPKD: Describing New Variants.Journal of clinical medicine · 2024Article
- Familial Variability of Disease Severity in Adult Patients With ADPKD.Kidney international reports · 2024Article
- 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
- Calcium signaling in polycystic kidney disease- cell death and survival.Cell calcium · 2023Review
- The CommonHuman mutation · 2023Article
- The genetic spectrum of polycystic kidney disease in children.Revista da Associacao Medica Brasileira (1992) · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
28 authors at 14 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Prenatal forms of autosomal dominant polycystic kidney disease (ADPKD) are rare but can be recurrent in some families, suggesting a common genetic modifying background. Few patients have been reported carrying, in addition to the familial mutation, variation(s) in polycystic kidney disease 1 (PKD1) or HNF1 homeobox B (HNF1B), inherited from the unaffected parent, or biallelic polycystic kidney and hepatic disease 1 (PKHD1) mutations. To assess the frequency of additional variations in PKD1, PKD2, HNF1B, and PKHD1 associated with the familial PKD mutation in early ADPKD, these four genes were screened in 42 patients with early ADPKD in 41 families. Two patients were associated with de novo PKD1 mutations. Forty patients occurred in 39 families with known ADPKD and were associated with PKD1 mutation in 36 families and with PKD2 mutation in two families (no mutation identified in one family). Additional PKD variation(s) (inherited from the unaffected parent when tested) were identified in 15 of 42 patients (37.2%), whereas these variations were observed in 25 of 174 (14.4%, P=0.001) patients with adult ADPKD. No HNF1B variations or PKHD1 biallelic mutations were identified. These results suggest that, at least in some patients, the severity of the cystic disease is inversely correlated with the level of polycystin 1 function.
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Registered trials
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