Work

A case of ADTKD-UMOD presenting with focal segmental glomerulosclerosis in a young male with a positive family history

Year: 2026

Type: article

Abstract: Focal segmental glomerulosclerosis (FSGS) is a pathological lesion with diverse etiologies. UMOD gene variants, typically associated with autosomal dominant tubulointerstitial kidney disease (ADTKD), are rarely reported as a cause of FSGS and remain poorly characterized. We report a young male patient with familial nephropathy whose renal biopsy revealed FSGS and whole-exome sequencing identified a heterozygous UMOD variant (OMIM: 191845), c.113 A > T (p.Asn38Ile). This case indicates that UMOD variants can manifest with FSGS as the predominant histological finding, and the accumulation of mutant uromodulin may initiate tubular injury and ultimately leading to secondary glomerulosclerosis. These findings highlight the necessity of incorporating genetic testing into FSGS evaluation to achieve precise diagnosis and guide management.

Source: BMC Nephrology

DOI: 10.1186/s12882-026-04924-y

Authors: Xin He, Jiang Pu

Institutions: North Sichuan Medical University, Capital Medical University, Nanchong Central Hospital

Language: English

Topic: Renal Diseases and Glomerulopathies

Subfield: Nephrology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,090