Journal of Diagnostics Concepts & Practice >
Fabry disease presenting with renal disease as the main manifestation diagnosed by renal biopsy: a case report
Received date: 2021-05-11
Online published: 2022-11-07
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
HAO Xu, WANG Weiming . Fabry disease presenting with renal disease as the main manifestation diagnosed by renal biopsy: a case report[J]. Journal of Diagnostics Concepts & Practice, 2022 , 21(04) : 527 -529 . DOI: 10.16150/j.1671-2870.2022.04.019
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