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目的探讨新生儿期肉碱棕榈酰转移酶Ⅱ(CPTⅡ)缺乏症的发生情况、临床特点,常规实验室检查、特异性生物化学检测的意义。方法回顾分析2008年4月至2012年5月佛山市妇幼保健院确诊4例CPTⅡ缺乏症患儿临床资料及诊治过程。结果 4例患儿均于新生儿期出现症状,表现为严重低血糖和严重心律失常、呼吸衰竭,短时间内抢救无效死亡,血串联质谱Aa18+Ac17分析C16增高或伴C14、C18增高、CO降低确诊本病。4例患儿入院时血糖分别为1.48 mmol/L、0.1 mmol/L、0.8 mmol/L和0.6 mmol/L;心律失常均表现为心率慢、心音低钝,心电图表现为房室传导阻滞,药物治疗无效。结论新生儿期CPTⅡ缺乏症发病率低,病情凶险,对可疑者宜早期采集标本行串联质谱检查。
Objective To investigate the occurrence, clinical features, routine laboratory tests and specific biochemical tests of neonatal carnitine palmitoyl transferase Ⅱ (CPTⅡ) deficiency. Methods The clinical data and diagnosis and treatment of 4 children with CPTⅡ deficiency diagnosed in MCH from April 2008 to May 2012 were retrospectively analyzed. Results All the 4 cases showed symptoms during the neonatal period. The symptoms were severe hypoglycemia and severe arrhythmia, respiratory failure and ineffective rescue in a short period of time. The serum C16, C16, Reduce the diagnosis of the disease. 4 cases of children admitted to hospital blood glucose were 1.48 mmol / L, 0.1 mmol / L, 0.8 mmol / L and 0.6 mmol / L; arrhythmia showed slow heart rate, low heart sound, ECG showed atrioventricular block, Invalid drug treatment. Conclusions The incidence of CPTⅡ deficiency in neonatal period is low, and the disease is dangerous. Serial mass spectrometry should be performed on the specimens suspected to be collected early.