糖原累积病Ⅱ型一例临床特点及基因分析  

Clinical characteristics and gene analysis of one case of glycogen storage disease type Ⅱ

作　　者：张湘云 王亚洲 张笃飞 Zhang Xiangyun;Wang Yazhou;Zhang Dufei(Department of Cardiovascular Disease,Hainan Women and Children's Medical Center(Hainan Children's Hospital),Haikou 570000,Hainan Province,China)

机构地区：[1]海南省妇女儿童医学中心,海南省儿童医院儿童心血管内科,海口570000

出　　处：《中国基层医药》2022年第9期1355-1358,共4页Chinese Journal of Primary Medicine and Pharmacy

摘　　要：目的探讨糖原累积病Ⅱ型(GSDⅡ)的诊治要点。方法对海南省儿童医院2017年5月7日收治的GSDⅡ患儿1例的临床资料进行回顾性分析。结果患儿以肺炎起病,伴有肌无力,肌酶升高,临床表现不典型。全基因测序检测提示该例患儿的酸性α-葡萄糖苷酶(GAA)基因有2个杂合突变,分别为c.871C>T及c.1447G>A,诊断为GSDⅡ。结论GSDⅡ临床表现不典型,易误诊,早期行全基因检测可能对疾病诊断具有一定帮助。Objective To investigate the key points of diagnosis and treatment of glycogen storage disease typeⅡ(GSDⅡ).Methods The clinical data of one child patient with GSDⅡwho received treatment in Hainan Children's Hospital on May 7,2017 were retrospectively analyzed.Results The child presented with atypical clinical manifestations,including pneumonia first,accompanied by muscle weakness and elevated muscle enzymes.Whole-genome sequencing showed that there were two heterozygous mutations in the acid alpha-glucosidase(GAA)gene,c.871C>T and c.1447G>A.The child was diagnosed with GSDⅡ.Conclusion GSDⅡhas atypical clinical manifestations.It is easily misdiagnosed.Early whole-genome sequencing is helpful for the diagnosis of GSDⅡ.

关 键 词：糖原贮积病Ⅱ型 病人病情 基因检测 多位点测序分型 突变 遗传 误诊 诊断 鉴别 儿童 

分 类 号：R725.8[医药卫生—儿科]