遗传性代谢病146例临床研究

Clinical research of 146 children with inborn errors of metabolism

目的探讨遗传性代谢病患儿的疾病谱、年龄特点及临床症状。方法对2003年1月—2007年12月在首都儿科研究所附属儿童医院住院的146例遗传性代谢病患儿的临床资料进行回顾性分析。依据患儿典型症状结合特殊生化检测、尿GC/MS、酶学、基因学检测、肌肉活检、影像学及实验性治疗等作出实验室诊断或临床诊断。结果检出遗传性代谢病共9大类17个病种,有机酸血症检出率占首位(36.3%),其次为线粒体病(16.4%)。1岁内出现症状者91例(62.3%),确诊53例(36.3%);～3岁出现症状者21例(14.4%),确诊40例(27.4%);～6岁出现症状者16例(11.0%),确诊15例(10.3%);>6岁出现症状者18例(12.3%),确诊38例(26.0%)。146例主要表现为智力运动发育落后或倒退(85.9%)、肌张力异常(51.4%)、惊厥(41.8%)、肝大(30.8%)、血液系统异常(24.7%)、共济失调(12.3%)。结论儿童期发病的遗传性代谢病病种多,其中有机酸血症检出率最高;遗传性代谢病患儿症状出现年龄早、确诊年龄滞后,且随年龄增长发病人数减少;对以智力运动发育落后/倒退、惊厥、肌张力异常就诊的患儿应注意除外遗传性代谢病。

Objective To investigate the spectrum, age and clinical features in children with inborn errors of metabolism （IEM）. Methods The clinical data of 146 children with IEM who were hospitalized in Capital Institute of Pediatrics Affiliated Children＇s Hospital from Jan 2003 to Dec 2007 were reviewed retrospectively. The diagnosis was based on clinical presentation and laboratory testing. Results Seventeen disorders in 9 categories were identified. The most common detected disorder was organic academia with detection rate of 36.3%, followed by mitochondrial encephalomyopathy with detection rate of 16.4%. Onset age of 91 cases （62.3%） and final diagnosis age of 53 cases （36.3%） were within 1 year old; onset age of 21 cases （14.4%） and final diagnosis of 40 cases （27.4%） were onset age of between 1 to 3 years old; onset age of 16 cases （11.0%） and final diagnosis age of 15 （10.3%） cases were between 3 to 6 years old; onset age of 18 cases （12.3%） and final diagnosis age of 38 cases （26.0%） were after 6 years old. The common clinical presentation were mental development retardation or retrogression （85.9%）, abnormal muscular tension （51.4%）, seizure （41.8%）, hepatomegaly （30.8%）, hematological system abnormality （24.7%） and ataxia （12.3%） . Conclusions There are many types of childhood onset IEM and the most common detected disorder was organic academia; The onset age of IEM was early and incidence of IEM gradually decreased with the age, However the age of diagnosis was delayed; IEM should be checked in children with mental development retardation or retrogression, abnormal muscular tension and seizures.