Indications for genetic testing in adults with focal segmental glomerulosclerosis

Abstract

Focal segmental glomerulosclerosis (FSGS) is a histological pattern of injury that derives from various pathological processes that affect podocytes, resulting in loss of selectivity of the glomerular filtration membrane, proteinuria and the development of renal failure that progresses to end-stage kidney disease in a significant number of patients. The classification proposed by the 2021 KDIGO guidelines divides FSGS into four categories: primary, secondary, genetic, and FSGS of undetermined cause, thus facilitating its diagnosis and management. Genetic causes of FSGS present significant clinical variability, complicating their identification. Genetic testing is crucial to identify FSGS of genetic cause. The prevalence of genetic FSGS is significant in children and considerable in adults, highlighting the importance of early diagnosis to avoid unnecessary treatments and facilitate genetic counselling. Massive sequencing techniques have revolutionized genetic diagnosis, allowing the identification of more than 60 genes responsible for podocyte damage. This document proposes clinical recommendations for carrying out genetic studies in adults with FSGS, highlighting the need for a correct classification for adequate therapeutic planning and improvement of results in clinical trials.