以反复感染为主要表现的新生儿戊二酸尿症Ⅱ型的诊断与治疗分析(1)
【摘要】 目的 探讨以反复感染为主要表现的新生儿戊二酸尿症的Ⅱ型临床特征、诊断与治疗方法。方法 回顾性分析3例反复感染戊二酸尿症Ⅱ型新生儿临床资料， 总结诊疗方法及临床特征， 并观察转归。结果 患儿于生后3～20 d起病， 主因反复发热、咳嗽、软弱无力来院就诊， 其中2例患儿系双胞胎女婴， 妹妹生后第3天因呼吸不规则入院， 诊断新生儿肺炎， 治愈出院， 之后反复发热、咳嗽， 软弱无力， 喂养困难。心肌酶谱示肌酸激酶(CK)、乳酸脱氢酶(LDH)增高， 胸片心脏呈球形增大， 心胸比例增大。心脏超声示心脏球形增大， 左心室壁增厚， 运动减弱， 三尖瓣轻度返流。姐姐与妹妹症状相似， 程度轻。治疗以左旋肉碱、心得安、维生素B2、卡托普利治疗， 双胞胎因反复感染， 心力衰竭分别于生后第7、9个月死亡。结论 新生儿戊二酸尿症Ⅱ型常以软弱无力、喂养困难、反复感染为主要表现， 往往不被认识而延误诊断， 失去治疗时机。早期诊断合理治疗或许对改善预后有帮助。对于原因不明的软弱无力、喂养困难、体重不增的患儿及早进行尿有机酸分析、血液脂肪酸分析等有关检查。
【关键词】 戊二酸尿症Ⅱ型；核黄素；感染
DOI：10.14163/j.cnki.11-5547/r.2018.13.011
【Abstract】 Objective To discuss the clinical characteristics， diagnosis and treatment method of neonatal glutaric aciduria type Ⅱ with recurrent infection as the main manifestation. Methods To retrospective analysis of clinical data of 3 cases of neonatal glutaric aeidururia type Ⅱwith recurrent infections. Summarize diagnosis and treatment and clinical characteristics and the outcome. Results Children became sick after 3～20 d of birth， and came to the hospital for repeated fever， cough， and weakness. 2 of them were twin girls. After the third day of illness， the younger sister was admitted to the hospital for respiratory irregularities to diagnose neonatal pneumonia 3 after birth. She was discharged from the hospital， but she was weak and unable to feed due to repeated fever and cough. Myocardial enzymes showed increased creatine kinase (CK) and lactate dehydrogenase (LDH)， spherical enlargement of heart by chest radiograph， and an increase in the proportion of the heart and chest. Echocardiography showed spherical enlargement of heart， thickening of left ventricular wall and reduced movement， and mild regurgitation of three cusp valves. Older sister and younger sister have similar mild symptoms， and they were treated with L-carnitine， propranolol， vitamin B2 and captopril. But the twins died of recurrent infection and heart failure at 7 th and 9 th month after birth. Conclusion Neonatal glutaric aciduria type Ⅱ is often characterized by weakness， difficulty in feeding， and repeated infection. The diagnosis is often delayed because it is not known， and loss of treatment time. Early diagnosis and reasonable treatment may be helpful for improving prognosis. For children with unexplained weakness， difficulty in feeding， and no weight gain， early detection of organic acids and blood fatty acids analysis should be performed.
【Key words】 Glutaric aciduria typeⅡ； Riboflavin； Infection
戊二酸尿癥Ⅱ型是由位于线粒体的电子传递黄素蛋白(electrontransferflavoprotein， ETF)或者电子传递黄素蛋白氧化酶(electron transfer flavoprotein-ubiquinone oxidoreductase， ETF-QO)的活性缺陷， 引起多种氧化酶同时受损。导致多种脂肪酸、支链氨基酸等代谢障碍， 也称为多种脂酰辅酶A氧化酶缺陷病[1-3] 。新生儿期起病者病情重， 预后不好。, http://www.100md.com(周建芹 刘芳 贾志义)
【关键词】 戊二酸尿症Ⅱ型；核黄素；感染
DOI：10.14163/j.cnki.11-5547/r.2018.13.011
【Abstract】 Objective To discuss the clinical characteristics， diagnosis and treatment method of neonatal glutaric aciduria type Ⅱ with recurrent infection as the main manifestation. Methods To retrospective analysis of clinical data of 3 cases of neonatal glutaric aeidururia type Ⅱwith recurrent infections. Summarize diagnosis and treatment and clinical characteristics and the outcome. Results Children became sick after 3～20 d of birth， and came to the hospital for repeated fever， cough， and weakness. 2 of them were twin girls. After the third day of illness， the younger sister was admitted to the hospital for respiratory irregularities to diagnose neonatal pneumonia 3 after birth. She was discharged from the hospital， but she was weak and unable to feed due to repeated fever and cough. Myocardial enzymes showed increased creatine kinase (CK) and lactate dehydrogenase (LDH)， spherical enlargement of heart by chest radiograph， and an increase in the proportion of the heart and chest. Echocardiography showed spherical enlargement of heart， thickening of left ventricular wall and reduced movement， and mild regurgitation of three cusp valves. Older sister and younger sister have similar mild symptoms， and they were treated with L-carnitine， propranolol， vitamin B2 and captopril. But the twins died of recurrent infection and heart failure at 7 th and 9 th month after birth. Conclusion Neonatal glutaric aciduria type Ⅱ is often characterized by weakness， difficulty in feeding， and repeated infection. The diagnosis is often delayed because it is not known， and loss of treatment time. Early diagnosis and reasonable treatment may be helpful for improving prognosis. For children with unexplained weakness， difficulty in feeding， and no weight gain， early detection of organic acids and blood fatty acids analysis should be performed.
【Key words】 Glutaric aciduria typeⅡ； Riboflavin； Infection
戊二酸尿癥Ⅱ型是由位于线粒体的电子传递黄素蛋白(electrontransferflavoprotein， ETF)或者电子传递黄素蛋白氧化酶(electron transfer flavoprotein-ubiquinone oxidoreductase， ETF-QO)的活性缺陷， 引起多种氧化酶同时受损。导致多种脂肪酸、支链氨基酸等代谢障碍， 也称为多种脂酰辅酶A氧化酶缺陷病[1-3] 。新生儿期起病者病情重， 预后不好。, http://www.100md.com(周建芹 刘芳 贾志义)