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Article

Autosomal dominant polycystic kidney disease linked to PKD2 locus in a family with severe extrarenal manifestations.

American journal of nephrology - 1 Jan 1997

Bozza A, Aguiari G, Scapoli C, Scalia P, Perini L, De Paoli Vitali E, del Senno L

Abstract excerpt

We report a large three-generation autosomal dominant polycystic kidney disease family from Northern Italy found to be associated with the PKD2 locus. Hepatic involvement (liver cysts, fibrosis, cholelithiasis or jaundice), subarachnoidal hemorrhage (1 case) and esophageal diverticula (1 case) were present in affected individuals. Among the older members, the males (aged 54-61 years) had hepatic cysts or fibrosis...

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Source

Identifiers

PMID: 9382166
DOI: 10.1159/000169141

Genes

PKD2
PKD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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