68例遗传代谢病高危患儿临床特征分析

Clinical Characteristics of 68 Children with High Risk of Inherited Metabolic Disease

目的:探讨遗传代谢病(IMD)高危患儿的临床特征。方法:选取本院2012年1月-2017年1月就诊的IMD高危患儿68例为研究对象,患儿均进行肝肾功能、血尿常规、血气分析、血氨、血糖、乳酸、脑电图检查及头颅腹部影像等检查,均采集手指或足跟处末梢血进行尿串联质谱法(tandem mass spectrometry,MS/MS)检测氨基酸和酰基肉碱谱,采用气相色谱-质谱(gas chromatography mass spectrometry,CC-MS)技术进行尿有机酸谱的检测,并最终确诊。结果:68例遗传代谢病高危患儿临床表现以抽搐、精神运动发育落后、代谢性酸中毒、反复呕吐、贫血、肌张力异常、呼吸异常为主,8例遗传代谢性疾病患儿,诊断发病率11.76%,其中3例甲基丙二酸血症、2例枫糖尿症、1例β-脲酰丙酸酶缺陷症、1例琥珀酸半醛脱氢酶缺陷症、1例高苯丙氨酸血症。结论:遗传代谢病高危患儿临床特征各不相同,遗传代谢病高危患儿以甲基丙二酸血症和枫糖尿病最多见,临床应重视早期联合运用MS/MS和CC-MS等技术对IMD高危患儿进行筛查,有助于早期的诊断及干预治疗。

Objective：To explore the clinical characteristics of children with high risk of inherited metabolic diseases.Method：A total of 68 children with high risk of IMD who treated in our hospital from January 2012 to January 2017 were selected as the research subjects.The liver and kidney function,blood and urine routine,blood gas analysis,blood ammonia,blood glucose,lactic acid,electroencephalogram and cranial abdominal imaging of All children were examined.The amino acid and acyl carnitine spectrum were detected by tandem mass spectrometry（MS/MS）,and gas chromatography mass spectrometry（CC-MS） was used to detect the urinary organic acid spectrum,and the final diagnosis was finally confirmed.Result：The main clinical manifestations of 68 children with high risk of IMD were convulsion,backward psychomotor development,metabolic acidosis,recurrent vomiting,anaemia,abnormality of muscle tension and abnormal breathing. 68 children with high risk of IMD were enrolled in the study.A total of 8 children with inherited metabolic diseases were diagnosed,the incidence of diagnosis was 11.76%.There were 3 cases of methylpropanoacidemia,2 cases of maple sugar urine,1 case of beta urea propioniase deficiency,1 case of succinic hemialdehyde dehydrogenase deficiency and 1 case of hyperphenylalaninemia.Conclusion：The clinical characteristics of high risk children with IMD are different.Methylpropanoacidemia and maple diabetes are most common in children with high risk of IMD.The early combined use of MS/MS and CC-MS techniques should be used to screen for high risk children with IMD,which is helpful for early diagnosis and intervention.