法布里病：一种多学科疾病。

Peters F P, Sommer A, Vermeulen A, Cheriex E C, Kho T L

Department of Internal Medicine, University Hospital Maastricht, The Netherlands.

Postgrad Med J. 1997 Nov;73(865):710-2. doi: 10.1136/pgmj.73.865.710.

Fabry's disease is an X-linked hereditary disorder resulting in accumulation of a glycolipid (galactosylgalactosyl glucosylceramide) due to deficiency of alpha-galactosidase A. The diagnosis can be made by histopathologic examination of skin biopsy, low activity of alpha-galactosidase in leucocytes and genetic examination. Treatment is symptomatic. We want to stress the multidisciplinary collaboration necessary to deal with this condition, in order to prevent acceleration of symptoms.

法布里病是一种X连锁遗传性疾病，由于α-半乳糖苷酶A缺乏，导致一种糖脂（半乳糖基半乳糖基葡萄糖神经酰胺）蓄积。诊断可通过皮肤活检的组织病理学检查、白细胞中α-半乳糖苷酶活性降低以及基因检测来进行。治疗为对症治疗。我们想强调应对这种疾病需要多学科协作，以防止症状加重。