婴儿迟发型氨甲酰磷酸合成酶Ⅰ缺乏症1例并文献分析  

Delayed carbamoyl phosphate synthase Ⅰ deficiency in infants: a case report and literature analysis

作　　者：黄莎[1,2] 王寿懿[1,2] 廖立红[1,2] 赵东赤 Sha HUANG;Shou-Yi WANG;Li-Hong LIAO;Dong-Chi ZHAO(Department of Pediatrics,Zhongnan Hospital of Wuhan University,Wuhan 430071,China;Children’s Health Big Data Research Center of Wuhan University,Wuhan 430071,China)

机构地区：[1]武汉大学中南医院儿科,武汉430071 [2]武汉大学儿童健康大数据研究中心,武汉430071

出　　处：《医学新知》2020年第4期302-307,共6页New Medicine

基　　金：国家自然科学基金面上项目(81870162)。

摘　　要：目的探讨婴儿迟发型氨甲酰磷酸合成酶I缺乏症(CPSID)的临床特征及基因突变情况。方法总结1例婴儿迟发型CPSID患儿的临床资料,回顾分析其临床特点、头颅磁共振成像及基因检测等结果,并分析相关文献。结果患儿,男,1月29天,以吐奶、烦躁及精神反应差等非特异性表现起病,后病情迅速进展,出现抽搐、昏迷及呼吸暂停等症状。先后两次查血氨值分别为:518.6μmol/L、952.8μmol/L,头颅磁共振提示双侧大脑半球白质区异常信号,基因检测发现CPSI致病基因存在第15号外显子c.1676delA(p.E559fs)及第20号外显子c.2407C>G(p.R803G)两处杂合突变。结合以上最终确诊为迟发型CPSID。结论对于婴幼儿建立喂养后出现不明原因吐奶、喂养困难及意识障碍等症状,应尽快完善血氨等代谢指标检测,若血氨水平明显增高,应考虑先天性尿素循环障碍,并行头部MRI检查以评价脑损伤程度。本例患儿基因检测结果发现了一个新的突变位点c.1676delA(p.E559fs),这在一定程度上扩展了CPSID的基因谱。Objective To investigate the clinical characteristics and gene mutation of delayed carbamoyl phosphate synthetase I deficiency(CPSID)in infants.Methods The clinical characteristics,cranial magnetic resonance imaging(MRI)and gene detection results were analyzed retrospectively,and the related literatures were analyzed.Results A 59-day old boy developed the disease with nonspecific manifestations such as spitting milk,dysphoria and poor mental response,and then the disease progressed rapidly with symptoms such as convulsion,coma,and apnea.The blood ammonia was tested two times and values were 518.6 umol/L and 952.8 umol/L respectively.Cranial magnetic resonance revealed abnormal signals in the white matter region of bilateral cerebral hemispheres.Gene detection revealed two hybrid mutations of exon 15 c.1676delA(p.E559fs)and exon 20 c.2407C>G(p.R803G)in the CPS1 pathogenic gene.Combined with the above,the final diagnosis was delayed CPSID.Conclusions For infants with unexplained vomiting,feeding difficulties and consciousness disorders after the establishment of feeding,metabolic indicators such as blood ammonia should be improved as soon as possible.If the blood ammonia level is significantly increased,congenital urea circulation disorder should be considered and MRI examination of the head should be performed to evaluate the degree of brain injury.A new mutation site c.1676delA(p.E559fs)was found in the gene detection results of this patient,which expanded the gene spectrum of CPSID to a certain extent.

关 键 词：氨甲酰磷酸合成酶Ⅰ缺乏症 迟发型 婴儿 CPSI基因 

分 类 号：R725.9[医药卫生—儿科]