Genetic testing in focal segmental glomerulosclerosis: in whom and when?

Ana María TatoNoa CarreraMaria García-MuriasAmir ShabakaAna ÁvilaMaría Teresa Mora MoraCristina RabascoKarina SotoFrancisco Jose de la Prada AlvarezLoreto Fernández-LorenteAntolina Rodríguez-MorenoAna HuertaCarmen MonClara García-CarroFayna González CabreraJuan Antonio Martín NavarroAna RomeraEduardo GutiérrezJavier VillacortaAlberto de LorenzoBeatriz AvilésMiguel Angel Garca-GonzálezGema Fernández-Juárez

Published in: Clinical kidney journal (2023)

FSGS-related variants were detected in a substantial number of patients with SRNS-FSGS or FSGS-UC, regardless of age of onset of disease or the patient's family history. In our experience, genetic testing should be performed in routine clinical practice for the diagnosis of this group of patients.

Keyphrases

clinical practice
end stage renal disease
ejection fraction
chronic kidney disease
newly diagnosed
prognostic factors
case report
gene expression
patient reported outcomes