新生儿发病型极长链酰基辅酶A脱氢酶缺乏症一例及文献复习

Report of a child with neonatal-onset very long chain acyl-Co A dehydrogenase deficiency and review of the literature

目的探讨新生儿发病型极长链酰基辅酶A脱氢酶缺乏症(VLCADD)的诊断和治疗。方法分析我院就诊的1例新生儿的临床诊治过程并复习文献,对新生儿VLCADD临床特点进行总结。结果新生儿期该病临床表现多种多样,包括猝死、低血糖、呼吸困难、嗜睡、昏迷、惊厥、呕吐、少吃、心律失常、肌张力低下、肝大等。猝死占32.4%。一般实验室检查有下列异常中的至少1项以上:低血糖、血氨增高、乳酸增高、代谢性酸中毒、白蛋白低、肝脏转氨酶升高、肌酸激酶增高。2年内死亡率高达76.5%。临床疑诊患者行血串联质谱十四烯酰基肉碱(C14:1)明显升高,尤其>1μmol/L可以明确诊断。治疗要点包括避免空腹,给予葡萄糖纠正低血糖,低脂饮食,供给中链三酰甘油、补充左旋肉碱及对症、支持处理。基因诊断可为VLCADD患儿家庭提供产前诊断帮助。结论新生儿发病型VLCADD临床以神级、呼吸、消化、心血管系统受累形式为主,突发死亡常见。早做血串联质谱是必要的。早诊断以早治疗,要点包括避免空腹,纠正低血糖,低脂饮食,供给中链三酰甘油、补充左旋肉碱及对症、支持处理。基因诊断可为产前诊断提供依据。

Objective：This study aimed to investigate the diagnosis and treatment of neonatal-onset very long chain acylCo A dehydrogenase deficiency（VLCADD）. Methods：By analyzing the clinical characteristics and laboratory results of a child admitted to Wuxi Maternal and Child Health Care Hospital and review of the literature. Clinical features in newborn with very long chain acyl-Co A dehydrogenase deficiency were summarized. Results：The clinical forms of neonatal-onset VLCADD are varied. There are some abnormal findings as follows in patients：sudden death,hypoglycemia,dyspnea,lethargy,coma,convulsions,vomiting,poor eating,arrhythmia,hypotonia,hepatomegaly,etc. Sudden death accounted for about 32.4% of the neonatal patients. And we could find the following exceptions at least more than one item by routing laboratory examinations：hypoglycemia,hyperammonemia,hyperlactatemia,metabolic acidosis,hypoalbuminemia,transaminase improving,hyper CKemias. Unfortunately it has a high mortality rate of about 76.5% in two years. Newborn screening through tandem mass spectrometry techniques is able to detect individuals with VLCADD. Elevated C14：1-carnitine level especially1 μmol/L strongly suggests VLCADD. Treatment of the patient includes a low-fat diet,monitoring of glucose levels,correcting hypoglycemia,specific dietary supplements with medium-chain triglycerides（MCT）,L-carnitine providing,symptomatic and supportive treatment. Early diagnosis and intervention may do some favor. Gene diagnosis can provide prenatal diagnosis. Conclusion：Neonatal-onset VLCADD has different clinical features including nervous,respiratory,digestion,cardiovascular system involvement. Sudden and unexpected death is common. SO early tandem mass spectrometry detection is essential. Early diagnosis may allow for effective treatment including a low-fat diet,fasting precautions,correcting hypoglycemia,supplemented with MCT,L-carnitine providing,symptomatic and supportive treatment. Gene diagnosis can provide prenatal diagnosis for VLCADD in proband＇s family.