High-risk screening combined with family screening for Fabry disease in adult hemodialysis population—a family report of GLA IVS4+919G>A mutation in Fabry disease
10.3760/cma.j.cn441217-20230625-00634
- VernacularTitle:高危筛查联合家系筛查法筛查成人血液透析人群中法布里病患者——附法布里病 GLA IVS4+919G>A突变1例家系报道
- Author:
Bingrong CHEN
1
;
Minqing TONG
;
Zhihong LU
;
Jianhua MAO
Author Information
1. 浙江大学医学院附属儿童医院肾脏内科 国家儿童健康与疾病临床医学研究中心，杭州 310052
- Keywords:
Fabry disease;
Renal dialysis;
Early diagnosis;
High-risk screening;
Family screening
- From:
Chinese Journal of Nephrology
2024;40(1):18-23
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the combination of high risk screening and family screening for potential patients with Fabry disease in adult hemodialysis population, and to improve the diagnostic efficiency of the disease.Methods:It was a cross-sectional investigation study. High-risk screening for Fabry disease was performed on adult hemodialysis patients with end-stage kidney disease who were admitted to Yongkang First People's Hospital of Zhejiang Province between November 2022 and February 2023. Dry blood paper α-galactosidase A (α-Gal A) detection assay was performed in males, or glycosphingolipids (Lyso-GL-3) detection assay was performed in females. GLA genetic assay was performed for further diagnosis after abnormal screening results. Family screening was carried out on the family members of the confirmed Fabry disease patients, and α-Gal A activity and Lyso-GL-3 of peripheral blood were measured. Additionally, urine routine, blood biochemistry, eye examination, hearing test, cranial magnetic resonance imaging, and electrocardiogram were performed to assess organ damage. Results:Among 244 hemodialysis patients, 139 (56.97%) were males and 105 (43.03%) were females. The age ranged from 25 to 81 years (with median age of 61 years). One female patient with Fabry disease was identified GLA IVS4+919G>A mutation, resulting in a total prevalence of 0.41%. Pedigree screening was conducted on 41 family members of the patient, leading to the confirmation of 12 patients (including the proband), including 3 males and 9 females. Among them, 9 patients were abnormal in enzyme examination, 10 patients were abnormal in substrate, and 11 patients were abnormal in gene sequencing. None of the 12 patients exhibited limb pain, hypohidrosis, angiokeratoma, corneal opacity, and hearing impairment. Eight patients had heart abnormalities. Nine patients had abnormal urine routine (albuminuria or hematuria) and one patient had abnormal renal function. Four patients had abnormal cranial magnetic resonance imaging findings. Conclusions:One GLA IVS4+919G>A mutation family is successfully identified through the combination of high-risk screening and family screening in adult hemodialysis patients, with a total of 12 cases of Fabry disease. The combination of high-risk screening and family screening proves to be effective in detecting potential patients with Fabry disease, and improve the screening efficiency of Fabry disease.
