A diagnosis of Fabry gastrointestinal disease by chance: a case report |
| |
Authors: | Feriozzi Sandro Torre Elena Sanz Ranalli Teresa Valentina Cardello Paolo Morrone Amelia Ancarani Enzo |
| |
Institution: | Department of Nephrology and Dialysis, Florence, Italy. sandro.feriozzi@tiscali.it |
| |
Abstract: | Fabry disease is an X-linked lysosomal storage disease caused by a deficiency of alpha-galactosidase A. This determines an accumulation of globotriaosylceramide within lysosomes. The clinical picture is highly variable and depends on cellular storage deposition. Renal, cardiac and nervous system are the most frequent organs involved. Gastrointestinal involvement is also present, associated with other clinical signs of Fabry disease and sometimes can be a prominent clinical manifestation. We describe a Fabry disease case in which gastrointestinal involvement was the first and the only clinical sign of Fabry disease and a diagnosis of Fabry disease was made by chance during a family screening. Enzyme replacement therapy was started and after 3 months, there was a complete disappearance of signs. |
| |
Keywords: | |
本文献已被 PubMed 等数据库收录! |
|