A family with Fabry's disease. Ocular manifestations and transmission electron microscopic examination of a skin lesion biopsy.
A family with Fabry's disease including 2 hemizygotes and 3 heterozygotes is reported. The ocular manifestations include tortuosity of conjunctival vessels, Fabry's deposits underlying the anterior capsule of the lens and the whorl-like corneal dystrophy. Foam cells or mulberry cells in the urinary sediment and varying numbers of high electron-dense inclusions in the cytoplasm of endothelial cells in skin lesions are also important in diagnosing this disease. The concentrations of lipid peroxide in the sera of 2 hemizygotes in this report were higher than normal, possibly due to the patients weak ability of anti-oxygenation and malfunction of cells whose plasma membranes are easily attacked by free oxygen radicals. The biochemical and pathological changes, diagnosis, treatment, genetics and prevention of the disease are discussed.
Bao
L L
LL
Shanxi Medical College, Taiyuan.
Guo
L L
LL
Li
S N
SN
Xiao
J
J
Yang
J S
JS
Bai
L R
LR
Ye
P M
PM
Guo
Z T
ZT
Liu
D W
DW
D000328:Adult; D001706:Biopsy; D003228:Conjunctiva / Q000098:blood supply; D005123:Eye / Q000473:pathology; D000795:Fabry Disease / Q000235:genetics* / Q000473:pathology / Q000648:ultrastructure; D005260:Female; D006801:Humans; D007908:Lens, Crystalline / Q000473:pathology; D008297:Male; D010375:Pedigree; D012171:Retinal Vessels / Q000473:pathology; D012867:Skin / Q000473:pathology / Q000648:ultrastructure*; D014699:Venules / Q000473:pathology