Renal involvement in Fabry disease from Tunisian families: Six case reports.

Abstract

Background: Fabry disease (FD) is a rare X-linked metabolic disorder caused by a deficiency or absence of alpha-galactosidase A activity. It leads to the progressive accumulation of glycosphingolipids in various organs, resulting in multisystem dysfunction. Renal involvement has been reported in 50% of affected males and 20% of females, with a wide phenotypic spectrum-even within the same family.

Case summary: We identified six cases of FD with renal involvement from our institutional database, originating from three unrelated families (A, B, and C). Five patients were male, aged 16 to 29 years (mean: 21.3; median: 22.5), and one was a 16-year-old female. All patients presented with proteinuria, including one with nephrotic syndrome. Hypertension was documented in two cases. Renal function varied from hyperfiltration in four patients to advanced chronic kidney disease in two, one of whom progressed to end-stage renal disease requiring hemodialysis. Renal biopsy, performed in two cases, revealed characteristic vacuolated podocytes consistent with Fabry nephropathy. Four patients received enzyme replacement therapy.

Conclusion: Renal involvement in FD is often underdiagnosed due to the heterogeneity of clinical presentation. Early diagnosis and timely initiation of enzyme replacement therapy can delay progression to chronic kidney disease and improve long-term outcomes.