云南玉溪地区一家系Fabry病调查研究及酶替代治疗疗效观察

Investigation and study of Fabry's disease in Yuxi area of Yunnan Provinceand therapeutic effeefct of enzyme replacement

目的对一FD家系患者的临床特征进行分析,探讨ERT的有效性及安全性。方法收集2022年8月-2023年1月期间玉溪市人民医院心内科收治的一个主要表现为FHCM的家系,共15人。其中,10人确诊为FD,6人进行ERT治疗。分析10例FD患者的临床特征,探究6例FD患者ERT治疗的疗效及安全性。结果10例FD患者基因检测结果显示均为:GLA错义突变c.167G>A p.Cys56Tyr。其中,6例为经典型,4例为迟发型,经典型在男性占比和血浆Lyso-GL-3水平高于迟发型,在发病年龄和血浆α-Gal A活性低于迟发型,差异均有统计学意义(P<0.05)。临床表现多样,所有患者多脏器不同程度受累。经ERT治疗12个月后,6例患者血浆Lyso-GL-3水平显著下降(P<0.05)。治疗过程中,仅1例患者间断出现双下肢浮肿,其余未见明显不良反应。结论该家系同一基因型突变Fabry病患者的临床表现不同,不同脏器受累程度不一;短期ERT治疗过程中患者耐受性良好,无严重不良反应发生,治疗后血浆Lyso-GL-3水平均下降。

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 andα-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.