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Autosomal Dominant Polycystic Kidney Disease: Genetic Insights, Phenotypic Spectrum, and Advances in Prognosis and Treatment.

Advances in kidney disease and health - 1 Jan 2026

Lim Ru Sin, Ma Becky Mingyao, St Pierre Kitty, Biros Erik, Mallett Andrew J

Abstract excerpt

Autosomal dominant polycystic kidney disease is a leading cause of inherited kidney failure, primarily due to pathogenic variants in PKD1 (80%) and PKD2 (15%), with rare contributions from genes like GANAB and DNAJB11. This review summarizes the understanding of autosomal dominant polycystic kidney disease's genetic and phenotypic diversity, emphasizing genotype-phenotype correlations that influence disease...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 42331437
DOI: 10.1053/j.akdh.2025.12.003

Genes

PKD1
PKD2
DNAJB11
GANAB

Provenance

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

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