Lee S Y, Kim S J, Lee J I, Kim E S, Lee C H, Kim J H, Jeong H J, Ha S K
Department of Internal Medicine, Yonsei University College of Medicine, Seoul, Korea.
Yonsei Med J. 1998 Feb;39(1):67-72. doi: 10.3349/ymj.1998.39.1.67.
Fabry's disease is a rare, X-linked disorder of the glycosphingolipid metabolism, in which a partial or total deficiency of a lysosomal alpha(alpha)-galactosidase results in the progressive accumulation of neutral glycosphingolipids with terminal alpha galactose moieties (i.e., cerebroside di- and trihexoside) in most body fluids and tissues. Accumulation of neutral glycosphingolipids occurs within the lysosomes of endothelial, perithelial, and smooth muscle cells of the myocardial and renal systems; to a lesser extent in reticuloendothelial and connective cells of the cornea; and in ganglion and perineural cells of the autonomic nervous system. In Korea, 7 cases of Fabry's disease have been reported. A 29-year-old man with fever and headache had typical skin findings and a family history of Fabry's disease, and it was confirmed through renal biopsy and enzyme assay for alpha-galactosidase. We report a case of Fabry's disease with a review of the literatures reported in Korea.
法布里病是一种罕见的X连锁糖鞘脂代谢紊乱疾病，其中溶酶体α（α）-半乳糖苷酶部分或完全缺乏导致大多数体液和组织中带有末端α半乳糖部分的中性糖鞘脂（即脑苷脂二己糖苷和三己糖苷）进行性蓄积。中性糖鞘脂蓄积发生在心肌和肾脏系统的内皮细胞、周皮细胞和平滑肌细胞的溶酶体内；在角膜的网状内皮细胞和结缔组织细胞中程度较轻；以及自主神经系统的神经节和神经周细胞中。在韩国，已报道7例法布里病病例。一名29岁发热、头痛男性有典型皮肤表现及法布里病家族史，经肾活检及α-半乳糖苷酶酶活性测定得以确诊。我们报告一例法布里病病例并回顾韩国报道的相关文献。
