Larralde de Luna M, García Díaz R, Sánchez G, Ilari R, Pierini A M, Campoy C, Chamoles N H
Med Cutan Ibero Lat Am. 1985;13(2):129-40.
Fabry's disease (angiokeratoma corporis diffusum) is an X-linked recessive inherited metabolic defect due to the lack of the enzyme alpha-galactosidase A. We reviewed the Argentine literature on the subject, the main features of the disease and its differential diagnosis. Two patients aged ten and fifteen are described showing the characteristic clinical picture of the disease since ages four and nine respectively. Skin and conjunctival ultrastructural studies showed intracytoplasmatic granules with a lamellar appearance in the endothelial cells, pericytes and fibroblasts. Plasma levels of alpha-galactosidase activity were sharply decreased in the two patients studied and partially decreased in their heterozygous mothers.
法布里病（弥漫性躯体血管角质瘤）是一种X连锁隐性遗传性代谢缺陷病，病因是缺乏α-半乳糖苷酶A。我们回顾了阿根廷关于该疾病的文献、其主要特征及鉴别诊断。描述了两名分别为10岁和15岁的患者，他们分别自4岁和9岁起就表现出该病的典型临床症状。皮肤和结膜超微结构研究显示，在内皮细胞、周细胞和成纤维细胞中有呈层状外观的胞质内颗粒。在研究的两名患者中，α-半乳糖苷酶活性的血浆水平急剧下降，而其杂合子母亲的该水平则部分下降。
