【摘要】 目的探讨先天性糖基化异常(CDG)-Ik型的诊断学特征。方法回顾性分析济宁市第一人民医院儿科于2018年6月7日收治的1例诊断为CDG-Ik型患儿的临床资料,分析其临床表现及基因检测结果并复习相关文献。结果男性患儿1岁,间断抽搐,双眼内斜,追视追听反应差,耳位偏低,双手无抓物意识,竖头不稳,运动发育落后,肌张力逐渐降低,膝腱反射减弱。检查发现肝功能异常,心肌损害,发育商低下。头颅磁共振成像(MRI)检查提示脑液腔隙较宽。基因测序全外显子检测,ALG1基因存在1处纯合突变:c.1312C>T(p.R438W),为错义突变,确诊为CDG-Ik型。经家系验证分析,受检人的父母该位点均为杂合变异,该位点为疑似致病性变异。结论 CDG-Ik型为常染色体隐性遗传病,对于不明原因的多脏器损害,特别是合并智能运动发育落后、斜视、小脑萎缩的患儿应考虑本病的可能,ALG1基因检测有助诊断。更多还原

【Abstract】 Objective To explore the clinical diagnostic features of congenital disorder of glycosylation type Ik(CDG-Ik). Methods The clinic data of 1 case of CDG-Ik who was admitted to the department of pediatrics of the First People′s Hospital of Jining on June 7, 2018 was analyzed retrospectively. The clinical data and genetic test results were analyzed and relevant literatures were reviewed. Results The male infant was 1 year old, with intermittent twitch, intraocular inclination, poor visual and auditory response, low ear position, no grasp consciousness in both hands, head instability, backward motor development, decreased muscle tone and decreased knee tendon reflex. Examination revealed abnormal liver function, myocardial damage, low developmental quotient. The head MRI revealed wide cerebral fluid cavity and cerebellar atrophy. The ALG1 gene had a homozygous mutation, c.1312 C>T, resulting in amino acid changes p.R438W, which was a missense mutation. The children was diagnosed as CDG-Ik. Through family verification and analysis, both the parents of the infant showed heterozygous variation at this site, which was suspected to be pathogenic variation. Conclusions CDG-Ik is an autosomal recessive genetic disease, and the possibility of this disease should be considered for multiple organs damage due to unknown reasons, especially for the children with backward development of intelligence and motor, strabismus and cerebellar atrophy. ALG1 gene detection can facilitate the diagnosis.更多还原