接受伊米苷酶治疗的Ⅰ型戈谢病患者生存质量调查

Quality of life of 22 patients with type 1 Gaucher disease after enzyme replacement therapy

目的:调查接受长期酶替代疗法(ERT)的Ⅰ型戈谢病(GD1)患者的生存质量并分析生存质量的影响因素。方法:纳入自1995年1月至2017年7月于北京协和医院接受ERT且配合调查的成人GD1患者共22例,收集其临床资料,应用SF-36量表调查其生存质量,并分析影响患者生存质量的因素。结果:研究纳入13例男性患者和9例女性患者,中位年龄41(24~52)岁,中位发病年龄6(1~38)岁,开始接受ERT的中位年龄为26(6~41)岁。68.2%的患者常居于我国欠发达城市,86.4%接受高中及以下教育,77.3%患者个人年收入低于3万元。基于SF-36健康调查量表,尽管GD1患者在研究开始前平均接受16(7~22)年ERT,但其生存质量与代表中国正常人群生存质量的对照组相比仍较低。脾脏切除史是影响患者躯体健康的不良因素(P<0.05)。开始ERT时年龄越小越有利于提高患者的躯体及心理健康水平(P<0.05)。心理健康不受脾脏切除史、骨受累等因素影响(P>0.05)。结论:本中心GD1患者多生活于欠发达地区,学历及收入水平较低。脾脏切除史及开始接受ERT年龄是影响GD1患者长期生存质量的重要因素。即使接受长期ERT,GD1患者的生存质量仍低于健康人。

Objective To investigate the living status and quality of life(QOL)in type1 Gaucher disease(GD1)patients who underwent long-term enzyme replacement therapy(ERT)and identify possible relevant factors affecting QOL.Methods Clinical data and SF-36 questionnaires were recorded in 22 adult GD1 patients under regular ERT at Peking Union Medical Colleague Hospital(PUMCH)from January 1995 to June 2017.Results 13 males and 9 females were included in this study.The current median age,age at diagnosis and initial time of ERT were 41(24-52),6(1-38)and 26(6-41)years respectively.Of these patients,68.2%was living in less-developed regions,86.4%were under college education,and 77.3%had personal annual income less than¥30000 RMB.Though after a median 16(7-22)years of ERT,the QOL of GD1 patients was still significantly worse(P<0.05)compared with normal Chinese population based on SF-36 questionnaires.History of splenectomy was a negative factor of QOL,mainly in physical health(P<0.05).Patients could get benefit from early start of ERT in both physical and mental health(P<0.05).Mental health was not affected by history of splenectomy and related bone diseases.Conclusion Most adult GD1 patients at PUMCH reside in less-developed regions and have low levels of education and annual income.History of splenectomy and time to start ERT are two important factors affecting QOL.Chinese adult GD1 patients are associated with reduced QOL,even after long-term ERT.