Investigation and study of Fabry's disease in Yuxi area of Yunnan Province and therapeutic effeefct of enzyme replacement
Objective To analyze the clinical features of a Fabry disease(FD)family and investigate the effectiveness and safety of enzyme replacement therapy(ERT).Methods A total of 15 patients with primary manifestation of familial hypertrophic cardiomyopathy(FHCM)were collected from the Cardiology Department of Yuxi People's Hospital from August 2022 to January 2023.Of those,10 cases were diagnosed with FD and six were treated with ERT.The clinical features of 10 FD patients were analyzed,and the efficacy and safety of ERT in six FD patients were explored.Results The genetic test results of 10 FD patients showed that all had the GLA missense mutation c.167G＞A p.Cys56Tyr.Of them,six cases were classic type and 4 cases were late-onset type.The classic type was more prevalent in males and had higher plasma Lyso-GL-3 levels than the late-onset type,while the onset age and α-Gal A activity were lower in the classic type than the late-onset type,with statistical significance(P＜0.05).The clinical manifestations were diverse,and all patients were affected to varying degrees of multiple organs.After 12 months of ERT treatment,the plasma Lyso-GL-3 levels of the six patients significantly decreased(P＜0.05).During the treatment period,only one patient had intermittent lower limb edema,and no other obvious adverse reactions were observed.Conclusions The clinical manifestations of the same genetic type Fabry disease patients in the same family are different,and the degree of involvement of different organs is not uniform.During the short-term ERT treatment,patients have good tolerance and no serious adverse reactions occurred.After treatment,the levels of Lyso-GL-3 in plasma were all reduced.
NETL
NSTL
万方数据
