Kotnik Jozica, Kotnik Franc, Desnick Robert J
Dermatology Service, General Hospital Slovenj Gradec, 2380 Slovenj Gradec, Slovenija.
Acta Dermatovenerol Alp Pannonica Adriat. 2005 Mar;14(1):15-9.
Fabry disease is an under-recognized X-linked recessive lysosomal storage disorder resulting from the deficient activity of the enzyme alpha-galactosidase A (alpha-Gal A). The first case of Fabry disease in Slovenia was diagnosed in 1991. This 46 year-old male was referred for dermatologic evaluation of a purpura on his abdomen. He was being treated for proteinuria and cardiac symptoms. The diagnosis of angiokeratoma corporis diffusa (Fabry disease) was made clinically and confirmed by demonstration of the deficient leukocyte alpha-Gal A activity. The patient subsequently developed cerebrovascular symptoms, coronary disease, and renal failure, and died from a recurrent myocardial infarction. Family studies identified several other affected males and carrier female relatives with this X-linked recessive disorder. This case illustrates the typical multi-manifestations of this inherited disease which now can be safely and effectively treated by enzyme replacement therapy. Early diagnosis is important for the most effective treatment of this disease.
法布里病是一种未被充分认识的X连锁隐性溶酶体贮积症，由α-半乳糖苷酶A（α-Gal A）活性不足引起。斯洛文尼亚的首例法布里病于1991年确诊。这位46岁的男性因腹部紫癜接受皮肤科评估。他正在接受蛋白尿和心脏症状的治疗。临床上诊断为弥漫性躯体血管角质瘤（法布里病），并通过白细胞α-Gal A活性不足得到证实。该患者随后出现脑血管症状、冠状动脉疾病和肾衰竭，死于复发性心肌梗死。家族研究确定了其他几名患有这种X连锁隐性疾病的男性患者和携带致病基因的女性亲属。该病例说明了这种遗传性疾病的典型多种表现，现在可以通过酶替代疗法进行安全有效的治疗。早期诊断对这种疾病的最有效治疗很重要。
