宁夏地区新生儿杜氏肌营养不良症筛查

Screening for Duchenne muscular dystrophy in newborns in the Ningxia region

摘要:

目的 初步评估宁夏地区男性新生儿人群中杜氏肌营养不良症（Duchenne muscular dystrophy, DMD）发病率，建立新生儿DMD筛查的临界值以区分新生儿正常人群和患病人群。方法 采用免疫荧光分析法对10 000例男性新生儿足跟干血斑滤纸片中的肌酸激酶同工酶浓度进行检测，筛查出高于正常临界值的新生儿，召回进行血清肌酸激酶浓度测定，异常者通过基因检测以明确DMD诊断。结果 共筛查10 000例男性新生儿，其中2例新生儿经基因检测确诊为DMD，初步估算宁夏地区男性新生儿DMD发病率为1/5 000；宁夏地区新生儿肌酸激酶同工酶浓度临界值为468.57 ng/mL。结论 在宁夏地区进行新生儿DMD筛查是可行的，通过对DMD患儿的早期筛查、早期诊断和早期治疗，可以改善患儿生活质量，为家庭再生育赢得更短的决策时间。

Abstract:

Objective To evaluate the incidence rate of Duchenne muscular dystrophy (DMD) in the male newborns in the Ningxia region and establish a critical threshold for screening DMD in newborns to distinguish between the normal population and affected individuals.Methods A total of 10 000 male newborns were screened using immunofluorescence analysis of creatine kinase isoenzyme concentrations in heel spot dried blood specimens. Newborns with the concentrations higher than the critical threshold were recalled for serum creatine kinase measurements. Genetic testing was performed to confirm diagnosis in cases showing abnormalities.Results Among the screened 10 000 male newborns, two were confirmed to have DMD through genetic testing, resulting in a preliminary estimated incidence rate of 1/5 000 for male newborns in the Ningxia region. The critical threshold for creatine kinase isoenzyme concentration in newborns in this region was determined to be 468.57 ng/mL.Conclusions Screening for DMD in newborns is feasible in the Ningxia region. Early screening, diagnosis, and treatment of DMD can improve the quality of life for affected individuals and help families make informed decisions regarding further pregnancies.