IgA肾病背景下发生的亚临床法布里病。

Subclinical Fabry's disease occurring in the context of IgA nephropathy.

作者信息

Kawamura O, Sakuraba H, Itoh K, Suzuki Y, Doi M, Kuwabara H, Oshima S, Abe S, Warabi H, Yoshizawa N

机构信息

Department of Internal Medicine, Japan Self Defense Forces Central Hospital, Tokyo, Japan.

出版信息

Clin Nephrol. 1997 Feb;47(2):71-5.

PMID:9049452

Abstract

A 28-year-old male patient with both IgA nephropathy and an unusual case of Fabry's disease has been followed for 10 years. Diagnosis of both these diseases was made by histological examination of renal biopsy tissues and the enzyme activities of alpha-galactosidase A. Serial biopsies revealed the hithertofore unrecognized process of glomerular glycolipid accumulation peculiar to Fabry's disease at the initial stages of the disease. Physical examinations and routine laboratory analyses failed to show significant signs of Fabry's disease throughout the 10-year period. While alpha-galactosidase A activity is markedly decreased in the plasma of this patient as in classical Fabry hemizygotes, the activity in leukocytes and culture fibroblasts showed a considerable residual activity. Fabry's disease associated with IgA nephropathy apparently is extremely rare, and the present subclinical case is unique in that the early stages of substrate accumulation are demonstrable.

摘要

一名患有IgA肾病和罕见法布里病的28岁男性患者已被随访10年。这两种疾病均通过肾活检组织的组织学检查和α-半乳糖苷酶A的酶活性得以确诊。系列活检显示，在疾病初期存在法布里病特有的肾小球糖脂蓄积这一此前未被认识的过程。在整个10年期间，体格检查和常规实验室分析均未显示法布里病的明显体征。尽管该患者血浆中的α-半乳糖苷酶A活性如典型法布里半合子一样显著降低，但白细胞和培养成纤维细胞中的活性显示出相当大的残余活性。与IgA肾病相关的法布里病显然极为罕见，而本亚临床病例的独特之处在于可证实底物蓄积的早期阶段。