关键词: Fabry病, α-半乳糖苷酶A, 基因突变, 蛋白尿

Abstract:

Fabry′s disease is an X-linked recessive genetic disease, which is mainly due to the mutation of (galactosidase A, GLA) gene. The decrease or loss of GLA activity eventually leads to the deposition of its metabolic substrate in multiple organs of the body, in which the kidney and heart are the two main affected organs. This paper reports a case of Fabry disease without gene mutation and diagnosed by renal biopsy and derease of GLA activity[26.2 nmol/(mL·h·m)][refer-ence value: >37 nmol/(mL·h·m)], clarifying the role of renal pathology in the diagnosis of the disease.

Key words: Fabry disease, Alpha-galactosidase A, Gene mutation, Proteinuria