Shelley E D, Shelley W B, Kurczynski T W
Department of Medicine, Medical College of Ohio, Toledo 43699, USA.
Pediatr Dermatol. 1995 Sep;12(3):215-9. doi: 10.1111/j.1525-1470.1995.tb00161.x.
Generalized anhidrosis with heat collapse, painful fingers, and angiokeratomas were the presenting signs in a 23-year-old man who was shown by enzyme studies and electron microscopy to have Fabry disease. His 6-year-old brother had the early diagnostic findings of episodic painful fingers, heat intolerance, and retroauricular telangiectasia. Both had an absence of alpha-galactosidase. Over 6 years of observation, the older brother developed progressive renal failure and the younger one developed acrodynia and anhidrosis. Their mother had diminished alpha-galactosidase activity and several angiomatous papules on one breast. A review of Fabry disease emphasizes the need for skin inspection for angiomas and telangiectasia, and enzyme assay in patients with inexplicable complaints or findings. Carrier females are most easily recognized by the presence of unique corneal opacities.
一名23岁男性的首发症状为全身无汗伴热虚脱、手指疼痛和血管角质瘤，酶学研究和电子显微镜检查显示其患有法布里病。他6岁的弟弟有发作性手指疼痛、不耐热和耳后毛细血管扩张等早期诊断性表现。两人均缺乏α-半乳糖苷酶。经过6年的观察，哥哥发展为进行性肾衰竭，弟弟则出现肢痛症和无汗症。他们的母亲α-半乳糖苷酶活性降低，一侧乳房有几个血管瘤性丘疹。对法布里病的综述强调，对于有无法解释的症状或体征的患者，需要检查皮肤是否有血管瘤和毛细血管扩张，并进行酶测定。携带致病基因的女性最容易通过独特的角膜混浊来识别。
