同卵双胞胎迟发型鸟氨酸氨甲酰基转移酶缺乏症病例分析并文献复习  

Identical Twins with Late-Onset Ornithine Transcarbamlase Deficiency: A Case Report and Literature Review

作　　者：袁远宏[1] 张慧[1] 肖政辉[1] 张新萍[1] 杨梅雨[1] 范江花[1] 宋宇雷 Yuan Yuanhong;Zhang Hui;Xiao Zhenghui;Zhang Xinping;Yang Meiyu;Fan Jianghua;Song Yulei(Children's Hospital of Hunan, Hunan Changsha 410007, China)

机构地区：[1]湖南省儿童医院

出　　处：《儿科药学杂志》2019年第7期7-10,共4页Journal of Pediatric Pharmacy

基　　金：十二五国家科技支持项目,编号2012BAI04B01;湖南省科技厅重点实验室项目,编号2018TP1028

摘　　要：目的:探讨迟发型鸟氨酸氨甲酰转移酶缺乏症(OTCD)的临床特点、诊治经验,提高对该病的认识。方法:回顾性分析我院确诊的一对同卵双胞胎兄弟OTCD的临床诊疗经过和实验室结果,并结合国内外资料进行文献复习。结果:同胞弟弟,14岁4月,病程1年余,1年前曾出现呕吐,此次仍以呕吐起病,后出现频繁抽搐、昏迷。血氨增高,尿气相色谱-质谱分析提示尿嘧啶和乳清酸增高。同胞哥哥,无明显临床表现,血氨正常,尿气相色谱-质谱分析提示尿嘧啶和乳清酸正常。遗传病医学外显子组基因测序明确其致病位点为鸟氨酸氨甲酰基转移酶(OTC)基因c.119G> A (p.Arg40His),患儿母亲携带c.119G> A(p.Arg40His)突变。结论:OTCD临床表现缺乏特异性,易误诊,对于原因不明的神经、精神症状或消化道症状患儿应尽早完善血氨、血尿质谱分析,从而有利于早期诊断,确诊则需要基因检测。治疗上以降低血氨,避免高氨血症对神经系统的损伤为原则,早期干预可改善预后。Objective: To probe into the clinical features,diagnosis and treatment experience of ornithine transcarbamlase deficiency( OTCD),so as to improve the understanding of the disease.Methods: Retorspective analysis was conducted on the clinical treatment and laboratory examination of a pair of identical twin brothers with OTCD diagnosed in our hospital.And the domestic and international literature were reviewed.Results: The younger brother,14 years and 4 months old,had a course of disease of more than 1 year and had vomiting one year ago.This time,the vomiting was still occurred,followed by frequent convulsions and coma.The serum ammonia increased,and the urine gas chromatography-mass spectrometry indicated the increase of uracil and orotic acid.The elderly brother,with no obvious clinical manifestations,the serum ammonia was normal,and the urine gas chromatography-mass spectrometry analysis showed that uracil and orotate were normal.Genetic diseases exome sequencing confirmed that the pathogenic site was ornithine carbamoyltransferase( OTC) gene c.119 G>A( p.Arg40 His),and the mother of the child carried c.119 G>A( p.Arg40 His) mutation.Conclusion: The clinical manifestations of OTCD are lack of specificity and easy to be misdiagnosed.For children with unexplained neurological,psychiatric or gastrointestinal symptoms,blood ammonia and hematuria mass spectrometry should be improved as soon as possible,which is conducive to early diagnosis and genetic testing for diagnosis.

关 键 词：鸟氨酸氨甲酰基转移酶缺乏症 高氨血症 串联质谱法 气相色谱-质谱法 

分 类 号：R725.8[医药卫生—儿科]