Fabry disease, a rare lysosomal storage disorder, predominantly affects males due to its X-linked inheritance pattern. Here, Abaterusso and colleagues describe a heterozygous female who developed severe Fabry disease-related renal disease with neither proteinuria nor microalbuminuria. This case highlights the importance of considering heterozygous females not merely as 'carriers' of Fabry disease, and emphasizes that the absence of microalbuminuria and proteinuria does not rule out chronic kidney disease in Fabry disease.
- Cataldo Abaterusso
- Vincenzo De Biase
- Giovanni Gambaro
