期刊
THERAPEUTIC ADVANCES IN GASTROENTEROLOGY
卷 9, 期 4, 页码 626-634出版社
SAGE PUBLICATIONS LTD
DOI: 10.1177/1756283X16642936
关键词
abdominal pain; diarrhea; lysosomal storage disease; neuropathy
资金
- Genzyme
Fabry disease is a rare X-linked lysosomal storage disease characterized by the dysfunction of multiple systems, including significant gastrointestinal involvement such as diarrhea, abdominal pain, early satiety and nausea. The gastrointestinal symptoms of Fabry disease are thought to be due to neuropathic and myopathic changes leading to symptoms of dysmotility that are encountered in many other disorders. The gastrointestinal symptoms can often be one of the presenting signs of the disease in childhood, but can be misdiagnosed by gastroenterologists for many years due to their nonspecific presentation. As the chief treatment for Fabry is enzyme-replacement therapy that has been shown to stabilize and possibly reverse disease course, recognition of these symptoms and early diagnosis in an attempt to prevent progression with treatment, is critical.
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