TY  - JOUR
T1  - FAbry's disease in a black kindred
AU  - Sheth KJ, Tang TT, Good TA
Y1  - 1979/11/01
N1  - 10.1001/archpedi.1979.02130110086017
JO  - American Journal of Diseases of Children
SP  - 1178
EP  - 1181
VL  - 133
IS  - 11
N2  - • In a 16-member black kindred with Fabry's disease, four hemizygous males had plasma α-galactosidase levels less than 6% and seven heterozygous females had plasma α-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.(Am J Dis Child 133:1178-1181, 1979)
SN  - 0002-922X
M3  - doi: 10.1001/archpedi.1979.02130110086017
UR  - http://dx.doi.org/10.1001/archpedi.1979.02130110086017
ER  -