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Article

Recurrent fetal loss associated with bilineal inheritance of type 1 autosomal dominant polycystic kidney disease.

American journal of kidney diseases : the official journal of the National Kidney Foundation - 1 Jul 2002

Paterson Andrew D, Wang Kai Rong, Lupea Doina, St George-Hyslop Peter, Pei York

Abstract excerpt

BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is a common Mendelian disorder that affects approximately 1 in 500 to 1,000 live births. Mutations in one of two genes, PKD1 and PKD2, account for the disease in most ADPKD families. Despite the relative high frequency of PKD1 mutant alleles, compound heterozygotes or diseased homozygotes have not been described. METHODS AND RESULTS: We report a...

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Source

Identifiers

PMID: 12087556
DOI: 10.1053/ajkd.2002.33908

Genes

PKD1
PKD2
SPP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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