GPI基因突变致葡萄糖磷酸异构酶缺乏症1例报告并文献复习  

Glucose-6-phosphate isomerase deficiency caused by GPI gene mutation:a case report and literature review

作　　者：黄鹏[1,2] 唐黎[1,2] 汪爱平 刘玲娟 熊洁[1,2] 肖阳阳[1,2] 毛定安[1,2] 刘利群[1,2] HUANG Peng;TANG Li;WANG Aiping;LIU Lingjuan;XIONG Jie;XIAO Yangyang;MAO Dingan;LIU Liqun(Department of Pediatrics,The Second Xiangya Hospital of Central South University,Changsha 410011,Hunan,China;Children's Brain Development and Brain Injury Research Office,The Second Xiangya Hospital of Central South University,Changsha 410011,Hunan,China)

机构地区：[1]中南大学湘雅二医院儿科,湖南长沙410011 [2]中南大学湘雅二医院儿童脑发育与脑损伤研究室,湖南长沙410011

出　　处：《临床儿科杂志》2020年第10期785-788,共4页Journal of Clinical Pediatrics

基　　金：湖南省科技计划重点研发项目(No.2018SK2069);湖南省卫生健康委员会资助项目(No.B2018-0311)。

摘　　要：目的探讨葡萄糖磷酸异构酶(GPI)缺乏症的临床特点及致病基因。方法回顾分析1例GPI缺乏症患儿的临床资料,并复习相关文献。结果患儿,男,4岁3月龄。自出生起反复出现贫血、黄疸,伴有肝脾肿大、膝关节疼痛、大运动发育落后;葡萄糖-6-磷酸脱氧酶、丙酮酸激酶、血红蛋白电泳、直接抗人球蛋白试验、红细胞脆性试验及骨髓细胞学检查均未见异常;膝关节磁共振示双膝关节少量积液并滑膜炎。全外显子测序显示患儿GPI基因6号外显子存在纯合错义变异c.553T>A(F185 I),Sanger测序验证分别来自其父母,为未见报道的新发变异。该变异为致病性变异。结论GPI缺乏症为罕见的常染色体隐性遗传病,早期行基因检测可协助诊断。Objective To explore the clinical characteristics and pathogenic genes of glucose-6-phosphate isomerase(GPI)deficiency.Method The clinical data of GPI deficiency in a child was retrospectively analyzed,and the related literature was reviewed.Results A 4-year-and 3-month-old boy suffered from repeated anemia and jaundice since birth,accompanied by hepatosplenomegaly,knee joint pain and gross motor development retardation.No abnormality was found in G 6 PD enzyme,pyruvate kinase,hemoglobin electrophoresis,direct Coombs test,erythrocyte fragility and bone marrow cytological examination.Knee joint MRI showed a small amount of fluid and synovitis in both knee joints.Whole exome sequencing showed that there was a homozygous missense mutation,c.553 T>A(F 185 I),in exon 6 of the GPI gene.Sanger sequencing verified that they were from their parents and it was a new mutation not reported before.The mutation was pathogenic.Conclusion GPI deficiency is a rare autosomal recessive genetic disease,and early genetic testing can assist in the diagnosis.

关 键 词：葡萄糖磷酸异构酶缺乏症 GPI基因 溶血性贫血 基因突变 

分 类 号：R725.9[医药卫生—儿科]