天津医药

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新生儿甲基丙二酸尿症七例报告并12例文献复习

张莹,郭静,王丹   

  1. 天津市儿童医院
  • 收稿日期:2013-01-14 修回日期:2013-03-04 出版日期:2013-08-15 发布日期:2013-08-15
  • 通讯作者: 张莹

Neonatal methylmalonic aciduria: a report of 7cases and review of 12 cases of China

ZHANGYING ,GUO Jing ,WANG Dan   

  • Received:2013-01-14 Revised:2013-03-04 Published:2013-08-15 Online:2013-08-15
  • Contact: ZHANGYING

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摘要： 【摘要】 目的 探讨新生儿甲基丙二酸尿症的临床特点及诊治经验。 方法 分析2009 年1 月—2012年10月我院收治的 7 例新生儿甲基丙二酸尿症资料， 并结合近 7 年来已报道的 12 例进行文献复习。 结果 19 例患儿中男 11例， 女 8 例； 发病年龄 24 h～ 27 d； 主要临床表现为喂养困难、呼吸困难、抽搐等； 常规实验室检查表现为代谢性酸中毒、高氨血症等； 气相色谱-质谱法(GC/MS) 分析尿有机酸显示 19 例患儿尿甲基丙二酸浓度均明显高于正常； 10例死亡， 6例随访2～ 8 个月发育显著迟缓， 3 例放弃治疗失访。 结论 甲基丙二酸尿症新生儿期临床表现复杂， 早期常出现喂养困难等非特异性症状， 常规检查缺乏特异性， 致死率及致残率很高， 对疑似病例应及时进行血、尿氨基酸检测。

关键词: 甲基丙二酸, 氨基酸类, 营养和代谢性疾病, 新生儿, 质谱分析法

Abstract: Objective   To acquire more knowledge about neonatal and prevent and treat it better by investigating the clinical feature and therapeutic experience about it. Methods    7 cases with Neonatal methylmalonic aciduria who were seen in Tianjin Children’s Hospital from Jan 2009 to Oct 2012 are reported in this paper and 12 cases reported previously in recent seven years in China were reviewed. Result   Totally 19 cases were summarized, 11 males and 8 females. Ages of onset were from 24 hours to 27 days. The main clinical manifestations were feeding difficulty, dyspnoea, twitch, et al. Routine laboratory examinations were metabolic acidosis, hyperammoniemia, et al. GC-MS analysis of urinary organic acid declared that 19 cases’ Urinary methylmalonic acid concentration were significantly higher. 10 cases died, 6 cases significant hypoevolutism during 2 to 8 months follow-up visits, 3 cases lost because of giving up treatment. Conclusion   Neonatal methylmalonic aciduria has nonspecific symptoms early such as feeding difficulty, et al. Routine examinations were short of specificity. Fatality rate and disability rate were very higher. In order to diagnose and treat early, we should detect the amino acids of blood and urine of suspected cases in time. So then we can improve the prognosis.

Key words: neonate