# Fabry Disease in a Patient With Thin Basement Membrane Nephropathy

## TL;DR

This paper presents a case of an older male patient with Fabry disease diagnosed through genetic and renal biopsy findings.

## Contribution

The paper highlights the importance of renal biopsy in diagnosing atypical cases of Fabry disease.

## Key findings

- A 59-year-old male was diagnosed with Fabry disease through genetic and renal biopsy findings.
- Renal biopsy showed lipid storage in podocytes, typical of Fabry disease.
- The case underscores the variable clinical presentation of Fabry disease in older adults.

## 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.