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Article

Mutations in multiple PKD genes may explain early and severe polycystic kidney disease.

Journal of the American Society of Nephrology : JASN - 1 Nov 2011

Bergmann Carsten, von Bothmer Jennifer, Ortiz Brüchle Nadina, Venghaus Andreas, Frank Valeska, Fehrenbach Henry, Hampel Tobias, Pape Lars, Buske Annegret, Jonsson Jon, Sarioglu Nanette, Santos Antónia, Ferreira Jose Carlos, Becker Jan U, Cremer Reinhold, Hoefele Julia, Benz Marcus R, Weber Lutz T, Buettner Reinhard, Zerres Klaus

Abstract excerpt

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). T...

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Identifiers

PMID: 22034641
DOI: 10.1681/ASN.2010101080
PMCID: PMC3279997

Genes

PKD1
PKD2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22034641-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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