Work

Fabry Disease in a Patient With Thin Basement Membrane Nephropathy

Year: 2025

Type: article

Abstract: Diagnosing Fabry disease can be challenging due to its broad spectrum of clinical presentations, highlighting the need for a high index of suspicion. A 59-year-old male patient with personal and family history of persistent hematuria was referred to our renal clinic for workup. Genetic workup confirmed a heterozygous inheritance pattern of alpha-4 chain of type IV collagen. A renal biopsy revealed characteristic electron microscopic findings typical of a lipid storage disease within the glomerular podocytes, reminiscent of Fabry disease. This case in an older adult patient underscores the variability of clinical presentation in Fabry disease, together with another inherited type IV collagen disease and the critical role of renal biopsy in diagnosing atypical cases.

Source: Cureus

DOI: 10.7759/cureus.81876

Authors: Eugene K Yeboah, Surya V Seshan, FNU Veerban, Mir Sulayman Khan, Subodh Saggi

Institutions: SUNY Downstate Health Sciences University, Weill Cornell Medicine

Language: English

Topic: Lysosomal Storage Disorders Research

Subfield: Physiology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4409269157