Sheth K J, Tang T T, Good T A
Am J Dis Child. 1979 Nov;133(11):1178-81. doi: 10.1001/archpedi.1979.02130110086017.
In a 16-member black kindred with Fabry's disease, four hemizygous males had plasma alpha-galactosidase levels less than 6% and seven heterozygous females had plasma alpha-galactosidase levels between 10% and 50% of normal. A 16-year-old index male had hypertension with left ventricular hypertrophy, abnormal renal function, tortuous retinal veins, "myelin" inclusions in bone marrow macrophages, and intraepithelial inclusion bodies in the kidney. Scrotal angiectasia developed a year after diagnosis. The three other affected males had left ventricular hypertrophy and retinal vein tortuosity. Of the seven carrier females, five had frequent headaches, four had retinal vessel changes, three had proteinuria with normal renal function, and two had bundle-branch blocks on ECGs. There was no deuteranomalopia in this family, although the inheritance pattern of the Fabry gene is X-linked recessive.
在一个有16名成员的患法布里病的黑人家族中，4名半合子男性的血浆α-半乳糖苷酶水平低于正常水平的6%，7名杂合子女性的血浆α-半乳糖苷酶水平在正常水平的10%至50%之间。一名16岁的先证男性患有高血压伴左心室肥厚、肾功能异常、视网膜静脉迂曲、骨髓巨噬细胞中有“髓磷脂”包涵体以及肾内上皮包涵体。诊断一年后出现阴囊血管扩张。其他3名患病男性有左心室肥厚和视网膜静脉迂曲。在7名携带者女性中，5名经常头痛，4名有视网膜血管改变，3名有肾功能正常的蛋白尿，2名心电图有束支传导阻滞。尽管法布里基因的遗传模式是X连锁隐性遗传，但这个家族中没有绿色弱。
