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

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 paperα-galactosidase A(α-Gal A)detection assay was performedin males,or glycosphingolipids(Lyso-CL-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,andα-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 ndamage.Results Among 244 hemodialysis patients,139(56.97%)were males and 105(43.03%)were females.