Screening for Fabry disease in patients with kidney disease
10.3760/cma.j.cn112138-20240804-00490
- VernacularTitle:肾脏病患者法布雷病的筛查分析
- Author:
Che YU
1
;
Zhuo LI
1
;
Rong WANG
1
;
Yanman ZHOU
1
Author Information
1. 山东第一医科大学附属省立医院肾内科，济南 250021
- Publication Type:Journal Article
- Keywords:
Kidney disease;
Fabry disease;
Screening;
GLA gene
- From:
Chinese Journal of Internal Medicine
2025;64(4):344-348
- CountryChina
- Language:Chinese
-
Abstract:
This study aimed to determine the prevalence of Fabry disease in patients with kidney disease and observe its clinical features. A total of 1 693 patients in the Renal Department of Shandong Provincial Hospital Affiliated to Shandong First Medical University with proteinuria or renal insufficiency were included from June 2020 to December 2023. The α-galactosidase A level in males and globotriaosylsphingosine (Lyso-GL-3) level in females were detected, and GLA gene detection was performed in those with abnormalities. The GLA gene mutation rate was 0.297% (3/1 010) in males, 1.025% (7/683) in females, and 0.591% (10/1 693) overall. The prevalence of Fabry disease was 0.297% (3/1 010) in males, 0.293% (2/683) in females, and 0.295% (5/1 693) overall. The clinical manifestations of Fabry patients with kidney disease are complex and varied, with high heterogeneity. The pathogenicity of GLA gene mutations in patients with kidney disease requires further comprehensive analysis. Some GLA gene mutations are non-pathogenic and are mostly found in females. Patients with primary or secondary kidney disease should not be ignored regarding screening for Fabry disease.
