Familial segmental and focal glomerulosclerosis: the association with mutation in the COL4A5 gene, in the interior of the Amazon

Abstract

Objective: To report a case of familial Segmental and Focal Glomerulosclerosis (FSGS) in the interior of the Amazon. Case detail: The report of a patient (index member) with FSGS diagnosed by renal biopsy associated with Alport Syndrome 1, in addition to two brothers with Chronic Kidney Disease of unknown cause and five other individuals to be screened for glomerular syndromes, including four siblings from the same family and their mother. The index member sought care as a preventive measure due to chronic kidney disease of two older brothers and complained of foamy urine. On physical examination, he was hypertensive. Laboratory tests showed proteinuria, hematuria, hypertriglyceridemia and class G3bA3 renal failure. Renal biopsy revealed findings consistent with Segmental and Focal Glomerulosclerosis. In the genetic panel, the variant ChrX:108,603,036 G>T was observed in the COL4A5 gene, associated with Alport Syndrome 1. The mother had altered renal function, proteinuria, hematuria and arterial hypertension, and the sister had mild hypoalbuminemia and alteration of the lipid profile. Final considerations: The COL4A5 variant represents a risk factor for the development of severe early end-stage renal disease and does not seem to respond to conventional corticosteroid therapy. The study allowed the diagnosis of a probable mild case of the disease in females.