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Article

Genotype-phenotype correlation in children with autosomal dominant polycystic kidney disease.

Pediatric nephrology (Berlin, Germany) - 1 May 2009

Fencl Filip, Janda Jan, Bláhová Kveta, Hríbal Zdenek, Stekrová Jitka, Puchmajerová Alena, Seeman Tomás

Abstract excerpt

Adults with autosomal dominant polycystic kidney disease (ADPKD) and PKD1 mutations have a more severe disease than do patients with PKD2 mutations. The aim of this study was to compare phenotypes between children with mutations in the PKD1/PKD2 genes. Fifty PKD1 children and ten PKD2 children were investigated. Their mean age was similar (8.6 +/- 5.4 years and 8.9 +/- 5.6 years). Renal ultrasound was performed,...

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Source

Identifiers

PMID: 19194729
DOI: 10.1007/s00467-008-1090-9

Genes

PKD1
PKD2
SDS

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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