Journal of Diagnostics Concepts & Practice >

2022 , Vol. 21 >Issue 04: 527 - 529

DOI: https://doi.org/10.16150/j.1671-2870.2022.04.019

Case reports

Fabry disease presenting with renal disease as the main manifestation diagnosed by renal biopsy: a case report

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  • Department of Nephrology, Ruijin Hospital, Northern Branch,Shanghai Jiao Tong University School of Medicine, Shanghai 201800, China

Received date: 2021-05-11

  Online published: 2022-11-07

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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

Cite this article

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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