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中华诊断学电子杂志 ›› 2019, Vol. 07 ›› Issue (04) : 249 -253. doi: 10.3877/cma.j.issn.2095-655X.2019.04.007

所属专题: 文献

临床研究

先天性糖基化异常Ik型的诊断学特征并文献复习
王亚萍1, 李荣培2, 葛昂2, 满宜刚3,()   
  1. 1. 272067 济宁医学院临床医学院;272011 济宁市第一人民医院儿科
    2. 272011 济宁市第一人民医院儿科
    3. 272011 济宁市第一人民医院儿科;266001 青岛市妇女儿童医院儿科
  • 收稿日期:2018-11-26 出版日期:2019-11-26
  • 通信作者: 满宜刚
  • 基金资助:
    山东省医药卫生科技发展计划项目(2017ws522)

Diagnostics features and literature review of congenital disorder of glycosylation type Ik

Yaping Wang1, Rongpei Li2, Ang Ge2, Yigang Man3,()   

  1. 1. Clinical Medicine, Jining Medical University, Jining 272067, China; Department of Pediatrics, the First People′s Hospital of Jining, Jining 272011, China
    2. Department of Pediatrics, the First People′s Hospital of Jining, Jining 272011, China
    3. Department of Pediatrics, the First People′s Hospital of Jining, Jining 272011, China; Department of Pediatrics, Qingdao Women and Children′s Hospital, Qingdao 266001, China
  • Received:2018-11-26 Published:2019-11-26
  • Corresponding author: Yigang Man
  • About author:
    Corresponding author: Man Yigang, Email:
引用本文:

王亚萍, 李荣培, 葛昂, 满宜刚. 先天性糖基化异常Ik型的诊断学特征并文献复习[J/OL]. 中华诊断学电子杂志, 2019, 07(04): 249-253.

Yaping Wang, Rongpei Li, Ang Ge, Yigang Man. Diagnostics features and literature review of congenital disorder of glycosylation type Ik[J/OL]. Chinese Journal of Diagnostics(Electronic Edition), 2019, 07(04): 249-253.

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。

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.

图1 先天性糖基化异常Ik型患儿头颅磁共振图像
图2 先天性糖基化异常Ik型患儿及父母ALG1基因测序图
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