Increased prevalence of kidney cysts in individuals carrying heterozygous COL4A3 or COL4A4 pathogenic variants.

doi:10.1093/ndt/gfae031

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Article

Increased prevalence of kidney cysts in individuals carrying heterozygous COL4A3 or COL4A4 pathogenic variants.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 30 Aug 2024

Furlano Mónica, Pilco-Teran Melissa, Pybus Marc, Martínez Víctor, Aza-Carmona Miriam, Rius Peris Asunción, Pérez-Gomez Vanessa, Berná Gerson, Mazon Jaime, Hernández Jonathan, Fayos de Arizón Leonor, Viera Elizabet, Gich Ignasi, Pérez Hugo Vergara, Gomá-Garcés Elena, Albero Dolon José Luis, Ars Elisabet, Torra Roser

Abstract excerpt

BACKGROUND: Clinical variability among individuals with heterozygous pathogenic/likely pathogenic (P/LP) variants in the COL4A3/COL4A4 genes (also called autosomal dominant Alport syndrome or COL4A3/COL4A4-related disorder) is huge; many individuals are asymptomatic or show microhematuria, while others may develop proteinuria and chronic kidney disease (CKD). The prevalence of simple kidney cysts (KC) in the...

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Identifiers

PMID: 38317457
DOI: 10.1093/ndt/gfae031
PMCID: PMC11361806

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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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