伴代谢危象的有机酸血症患儿53例临床分析

Clinical features of infantile organic acidemia accompanied with acute metabolic crisis

目的分析伴代谢危象的有机酸血症患儿的临床及实验室特点，提高儿科医生对该病的认识，提高临床治愈率，减少后遗症的发生。方法分析我科2006年4月至2014年10月确诊的病例资料，总结其临床表现、血和尿有机酸测定结果、血气分析、血糖、乳酸、血氨等特点，并对其诊断、治疗及转归情况进行回顾性分析。结果53例患儿中，男37例，女16例，年龄均小于1岁；甲基丙二酸血症28例，丙酸血症11例，戊二酸血症Ⅱ型、生物素酶缺乏症各3例，异戊酸血症、戊二酸血症I型各2例，多种辅酶A羧化酶缺乏症、甘油激酶缺乏症、3一甲基巴豆酰辅酶A羧化酶缺乏症、全羧化酶合成酶缺乏症各1例，其中25例（47．2％）起病后7d内发生危象。主要临床表现为喂养困难、频繁抽搐、呼吸困难；实验室检查以严重低血糖、顽固的代谢性酸中毒、高氨血症最为常见。12例有阳性家族史。所有患儿人院后均给予对症支持治疗，包括纠正低血糖、降低高血氨，维持水、电解质、酸碱平衡，维护重要脏器的功能；明确诊断后给予补充代谢辅助因子及特殊奶粉等保守治疗。给予相应处理后，32例（60．4％）好转出院，15例（28．3％）死亡。结论1岁以内的有机酸血症患儿易发生代谢危象，起病急，病情进展快，救治难度大。喂养困难、频繁抽搐、呼吸困难是最常见的临床表现，早期诊断、早期治疗是改善预后的关键；对于原因不明的低血糖、难以纠正的代谢性酸中毒等患儿应及早进行筛查。

Objective To investigate the clinical and laboratory characters of infantile organic acidemia（OA） accompanied with acute metabolic crisis. Methods We analyzed retrospectively datum of in- fants with OA diagnosed in our unit from April 2006 to October 2014. Results Fity-three cases （37 male and 16 female,aged under 1 year old） were enrolled in this study,in which,28 cases were methylmalonic aci- demia, 11 cases were propionic acidemia,3 cases were biotinidase deficiency ,3 cases were glutaric acidemia type Ⅱ ,2 cases were glutaric acidemia type I ,2 cases were isovaleric acidemia, 1 case was variety of coenzyme A carboxylase deficiency, 1 case was glycerol kinase deficiency, 1 case was 3-methylcrotonyl-CoA carboxylase deficiency and 1 case was holocarboxylase synthetase defect. Tweny-five of the 53 cases （47. 2% ） developed metabolic crisis within 7 days after onset, main manifestations included feeding difficulties, frequent seizures dyspnea, et al. The most common abnormal laboratory findings manifested severe hypoglycemia, in- tractable metabolic acidosis, hyperammonemia, et al. Twenty cases had family history. All patients were given symptomatic relief and supportive treatment, including colleting hypoglycemia, reducing hyperammonemia, keeping water, electrolyte and acid base balance, maintaining function of vital organs, suppling metabolic cofactor and special fomula, et ai. After treatment,32 cases （60.4%） improved markedly while death occurred in 15 cases （28.3 % ）. Conclusion OA confirmed under 1 year old is especially vulnerable to acute metabolic crisis, which characterized by sudden onset, rapid progress and is difficult to treat. Feeding difficulties, frequent seizures and dyspnea were the very common presentations. Early diagnosis and timely treatment are critical for improving the prognosis. Clinicians should be aware of it, and an early metabolic disorders screening should be intervened in patients with hypoglycemia of unknown etiology or refractory metabolic acidosis.