A diagnosis of Fabry gastrointestinal disease by chance: a case report
| Autor: | Elena Sanz Torre, Amelia Morrone, Teresa Valentina Ranalli, Paolo Cardello, Sandro Feriozzi, Enzo Ancarani |
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| Rok vydání: | 2007 |
| Předmět: |
Nervous system
Adult Male Pathology medicine.medical_specialty Colon Gastrointestinal Diseases fabry disease gla Globotriaosylceramide Diagnosis Differential chemistry.chemical_compound Cellular storage Crohn Disease Ileum Lysosomal storage disease medicine Humans Incidental Findings Hepatology business.industry Vascular disease Gastroenterology Enzyme replacement therapy Colonoscopy medicine.disease Fabry disease Pedigree Isoenzymes medicine.anatomical_structure chemistry Gastrointestinal disease alpha-Galactosidase Fabry Disease Female business |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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