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Article

Clinical characteristics and genotype-phenotype correlation for patients with autosomal recessive polycystic kidney disease and PKHD1 mutations.

Clinical nephrology - 1 Mar 2026

Wang Qing, Chu Yan, Ren Guisheng, Yang Xi, Gao Erzhi

Abstract excerpt

BACKGROUND: Autosomal recessive polycystic kidney disease (ARPKD) is a rare disorder mainly caused by mutations in the polycystic kidney and hepatic disease 1 (PKHD1) gene. This study aimed to analyze the genotypes, clinical phenotypes, and their correlations of PKHD1 gene mutations in such patients. MATERIALS AND METHODS: A retrospective analysis was conducted using the clinical data of 11 patients diagnosed...

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Identifiers

PMID: 41467628
DOI: 10.5414/CN111793

Genes

PKHD1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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