Isolated microalbuminuria as the first clinical presentation of Fabry disease in an adult heterozygous female

NDT Plus. 2009 Dec;2(6):455-7. doi: 10.1093/ndtplus/sfp104. Epub 2009 Aug 11.


Fabry disease (FD) is a rare X-linked disorder characterized by low or absent activity of the lysosomal enzyme α-glycosidase-A that leads to progressive accumulation of glycosphingolipids in different organs and tissues. Clinical manifestations vary from classic to atypical forms characterized by one prevalent organ involvement, and a renal variant has been described in men but not in women. However, little is known about renal manifestation in females affected by FD. We herein report a case of a 22-year-old female with isolated and persistent microalbuminuria as the only sign of FD. In light of the importance of early recognition and treatment of FD organ damage, this case should call for future studies to determine how to assess organ damage, investigate the existence of a 'renal variant' in FD female patients and determine when best to start enzyme replacement therapy (ERT).

Keywords: Fabry disease; heterozygous; microalbuminuria; proteinuria.

Publication types

  • Case Reports