Fabry Disease in a Patient With Thin Basement Membrane Nephropathy.
Overview
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.
