Cystic phenotype and chronic kidney disease in autosomal dominant Alport syndrome.

doi:10.1093/ndt/gfae002

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Article

Cystic phenotype and chronic kidney disease in autosomal dominant Alport syndrome.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 31 Jul 2024

Bada-Bosch Teresa, Sevillano Angel M, Sánchez-Calvin María Teresa, Palma-Milla Carmen, Alba de Cáceres Ignacio, Díaz-Crespo Francisco, Trujillo Hernando, Alonso Marina, Cases-Corona Clara, Shabaka Amir, Quesada-Espinosa Juan Francisco, Lezana-Rosales José Miguel, Gutiérrez Eduardo, Fernández-Juárez Gema, Caravaca-Fontán Fernando, Praga Manuel

Abstract excerpt

BACKGROUND: Autosomal dominant Alport Syndrome (ADAS), also known as thin basement membrane disease (TBMD), is caused by pathogenic variants in the COL4A3 and COL4A4 genes. A cystic phenotype has been described in some patients with TBMD, but no genetic studies have been performed. We conducted a genetic and radiologic investigation in a cohort of ADAS patients to analyze the prevalence of multicystic kidney...

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PMID: 38178635
DOI: 10.1093/ndt/gfae002

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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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