肝脏增大、反复发作性肌无力和低血糖

发布时间：2018-02-14 05:07

  本文关键词： 电子转运黄素蛋白脱氢酶 戊二酸尿症 低血糖 肌无力 儿童　出处：《中国当代儿科杂志》2017年10期 　论文类型：期刊论文

【摘要】：患儿,男,11岁,间断乏力、行走困难6年,发作性意识不清4年;辅助检查提示严重代谢性酸中毒、低血糖、肝功能异常,CT示肝脏明显增大、呈脂肪密度影。给予补液、纠酸、纠正低血糖,以及左卡尼汀、复合维生素B、辅酶Q10等治疗,患儿持续昏迷、代谢性酸中毒及低血糖难以纠正,患儿死亡。血、尿有机酸筛查和基因检测证实为电子转运黄素蛋白脱氢酶编码基因(ETFDH)缺陷所致的迟发型戊二酸尿症Ⅱ型(GAⅡc型)。GAⅡc型是一种发病率很低的遗传性代谢病,易误诊误治。对于反复乏力或活动耐力下降、低血糖、肝脏明显增大伴肝功能异常的患儿,应考虑GAⅡ型的可能,尿有机酸分析和血串联质谱分析可提供诊断线索,ETFDH基因分析可提供确诊依据。
[Abstract]:The children were 11 years old, with intermittent fatigue, 6 years of walking difficulty, and 4 years of agitated consciousness. The auxiliary examination showed severe metabolic acidosis, hypoglycemia and abnormal liver function. Ct showed that the liver was obviously enlarged and showed fat density shadow. Correction of hypoglycemia, and treatment of levacarnitine, complex vitamin B, coenzyme Q10, etc., continued coma, metabolic acidosis and hypoglycemia are difficult to correct, the child died. Urinary organic acid screening and gene detection confirmed that the delayed type glutaric acid disease type 鈪，

本文编号：1509944