ISSN 1674-3865  CN 21-1569/R
主管:国家卫生健康委员会
主办:中国医师协会
   辽宁省基础医学研究所
   辽宁中医药大学附属医院

中国中西医结合儿科学 ›› 2019, Vol. 11 ›› Issue (1): 91-93.doi: 10.3969/j.issn.1674-3865.2019.01.026

• 临床研究 • 上一篇    

戈谢病Ⅱ型1例报道并文献复习

史惠,陈日玲   

  1. 524003 广东 湛江,广东医科大学2016级儿科学专业研究生(史惠);广东医科大学附属医院儿童医学中心(陈日玲)
  • 出版日期:2019-02-25 发布日期:2019-07-11
  • 通讯作者: 陈日玲,E-mail:chenrl319@163.com
  • 作者简介:史惠(1991-),女,广东医科大学2016级硕士研究生在读。研究方向:小儿血液与肿瘤

Gaucher disease Ⅱ: a case report and literature review

SHI Hui,CHEN Riling   

  1. Guangdong Medical University, Zhanjiang 524003,China
  • Online:2019-02-25 Published:2019-07-11

摘要:
目的
探讨戈谢病的临床特点及诊断。
方法
回顾性分析1例经基因学诊断的戈谢病Ⅱ型患儿的临床特点、骨髓涂片及基因突变类型。
结果
女孩,7个月,主要表现为肝脾大、角弓反张、精神运动发育落后;骨髓片可见戈谢细胞;分析葡萄糖脑苷脂酶基因,明确突变类型为c-1448T>C(pLeu483Pro)。
结论
戈谢病Ⅱ型主要表现为肝脾大,可伴有神经系统受累,葡萄糖脑苷脂酶活性及基因分析对诊断有重要意义。

关键词: 戈谢病, GBA基因, 遗传病, 儿童

Abstract:


Objective
To investigate the clinical characteristics and diagnosis of Gaucher disease.
Methods
The clinical features,bone marrow aspiration and gene mutation types of the infant with Gaucher disease Ⅱ were analyzed.
Results
The main clinical manifestations of the infant included hepatosplenomegaly, opisthotonos and mental and motion development retardation. Gaucher's cells could be seen in the bone marrow aspirates. GBA mutations were c.1448T>C(p.Leu483Pro) which was confirmed by glucocerebrosidase gene analysis.
Conclusion
Main features of Gaucher disease Ⅱ are hepatosplenomegaly with nerve system involvement. Glucocerebrosidase activity and gene analysis are important to the diagnosis of Gaucher disease.

Key words: Gaucher disease, GBA gene, Genetic disease, Children