摘要
目的探讨mut型甲基丙二酸血症(methylmalonic acidemia,MMA)的临床特点、实验室检查及基因型,为mut型MMA的诊断与治疗提供依据。方法回顾性分析2015年12月至2020年6月于河北医科大学第二医院儿科内分泌遗传代谢诊室诊治的18例mut型MMA患儿的临床表现、一般检查、血尿代谢、基因检测结果。结果mut型MMA患儿多于1岁内发病,主要临床表现为呕吐、嗜睡,严重者甚至出现抽搐、呼吸困难、意识障碍。18例患儿均为甲基丙二酰辅酶A变位酶基因(methylmalonyl-CoA mutase gene,MUT)基因突变,共检测出20种突变,突变位点主要是c.729_730insTT,且突变类型多样化。结论mut型MMA临床表现不典型,血尿代谢可供参考,基因检测是临床分型的可靠依据,且基因突变位点多样化。
Objective To explore the clinical characteristics,laboratory examination and genotype of mut-type methylmalonic acidemia(MMA)to provide basis for the diagnosis and treatment of mut-type MMA.Methods A retrospective analysis of clinical manifestation,general examination,serum and urine metabolism,gene detection results of 18 children with mut-type MMA admitted to the pediatric endocrinology,genetics and metabolism clinic of the Second Hospital of Hebei Medical University from December 2015 to June 2020 was performed.Results Mut-type MMA were common in less than 1 year infant,in those patients,main clinical manifestations presented vomiting,drowsiness,even convulsions,dyspnea and disturbance of consciousness in severe.Gene mutation of 18 children was caused by methylmalonyl-CoA mutase(MUT),detecting totally 20 mutations;the mutation sites were mainly c.729_730insTT,and with diversification of mutation types.Conclusion Mut-type MMA,a atypical clinical manifestations,should be reference urine metabolism,genetic testing is considered to be a reliable evidence for clinical classification with diversification of mutation types.
作者
赵婉晴
张亚男
魏晨曦
白欣立
Zhao Wanqing;Zhang Yanan;Wei Chenxi;Bai Xinli(Department of Pediatrics, the Second Hospital of Hebei Medical University, Shijiazhuang 050000, China)
出处
《临床荟萃》
CAS
2022年第2期145-149,共5页
Clinical Focus
基金
河北省医学科学研究课题计划——甲钴胺治疗甲基丙二酸血症合并同型半胱氨酸血症(20190599)。
