Clinical Spectrum and Prognosis of Atypical Autosomal Dominant Polycystic Kidney Disease Caused by Monoallelic Pathogenic Variants of IFT140.

Date publication

décembre 2024

Journal

American journal of kidney diseases : the official journal of the National Kidney Foundation

Auteurs

Membres identifiés du Cancéropôle Est :
Pr FAIVRE Laurence , Dr NAMBOT Sophie

Tous les auteurs :
Zagorec N, Calamel A, Delaporte M, Olinger E, Orr S, Sayer JA, Pillay VG, Denommé-Pichon AS, Mau-Them FT, Nambot S, Faivre L, Ars E, Torra R, Ong AC, Devuyst O, Perico N, Després AM, Lemoine H, de Fallois J, Brousse R, Hummel A, Knebelmann B, Maisonneuve N, Halbritter J, Le Meur Y, Audrézet MP, Cornec-Le Gall E,

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/39732359

Résumé

Monoallelic predicted Loss-of-Function (pLoF) variants in IFT140 have recently been associated with an autosomal dominant polycystic kidney disease (ADPKD)-like phenotype. This study sought to enhance the characterization of this phenotype.

Mots clés

ADPKD-like spectrum, IFT140, autosomal dominant polycystic kidney disease (ADPKD), case series, inherited kidney diseases, kidney function, loss of function variants, monoallelic IFT140-variants, polycystic kidney disease

Référence

Am J Kidney Dis. 2024 12 26;: