我国低磷性佝偻病患者生存状况调查分析

Investigation and Analysis of Living Status of Patients with Hypophosphatemic Rickets in China

目的:全面了解我国低磷性佝偻病患者生存现状。方法:采用滚雪球抽样的方法以在线问卷调查的形式经由27家协作医院收集患者有关诊断、治疗、疾病经济负担、健康状况等方面的信息。结果:纳入有效样本401例,其中75.06%为X连锁显性遗传性低磷性佝偻病(XLH)。诊断方面,患者首次就医未确诊比例高达72.57%,60%以上经历过误诊;治疗方面,患者普遍接受磷酸盐制剂和活性维生素D联用的对症药物治疗,未有患者使用靶向对因治疗药物;疾病负担方面,患者年人均疾病经济负担为28169.76元,家庭灾难性卫生支出发生率达20%;健康状况方面,患者生长发育受限,残疾率高,EQ-5D量表VAS得分和健康效用值均低于人群常模分。结论:我国低磷性佝偻病患者确诊困难,误诊多,常规药物治疗效果一般。此外,医疗保障水平不足,患者经济负担重,健康相关生命质量较差。

Objective:To comprehensively understand the current status of patients with hypophosphatemic rickets(HR)in China.Methods:Information about diagnosis,treatment,disease burden and quality of life of HR patients were collected via online survey in27 cooperative hospitals based on snowball sampling.Results:A total of 401 eligible patients were included,of which 75.06% were X-linked hypophosphatemia(XLH).Patients who were not diagnosed at the first time accounted for 72.57%,and more than 60% of patients experienced misdiagnosis.In terms of therapy,patients normally received the conventional treatment of oral phosphate and active vitamin D supplementation,and no one used breakthrough targeted drugs.The total economic burden of disease was 28169.76 yuan per capita for each year,and more than 20% of families had catastrophic health expenditure.Regarding quality of life,HR disease had an impact on patients’growth and development and caused a high proportion of disability-The EQ-5 D VAS score and health utility of patients with HR were both lower than the norm score of Chinese general population.Conclusion:Patients with HR were found difficult to be diagnosed in China,the misdiagnosis is common,and the effect of conventional drug therapy is poor.Moreover,the current medical insurance reimbursement level is insufficient,the economic burden of patients is heavy,and the health-related quality of life(HRQOL)of these patients are poor.