Physiologic mechanisms underlying polycystic kidney disease.

doi:10.1152/physrev.00018.2024

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Article

Physiologic mechanisms underlying polycystic kidney disease.

Physiological reviews - 1 Jul 2025

Boletta Alessandra, Caplan Michael J

Abstract excerpt

Polycystic kidney disease (PKD) encompasses a class of disorders presenting with bilateral cyst formation in the kidney. PKD can be inherited as a dominant (ADPKD) or a recessive (ARPKD) trait, due to mutations into multiple genes, the most frequent being PKD1, PKD2, and PKHD1. The protein products of these genes (polycystin-1, polycystin-2, and fibrocystin, respectively) have been shown to reside within the...

Topics

Humans
Polycystic Kidney Diseases
Animals
TRPP Cation Channels
Cilia
Kidney
Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 39938884
DOI: 10.1152/physrev.00018.2024
PMCID: PMC12174308

Genes

PKD1
PKD2
PKHD1

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