11例X连锁无丙种球蛋白血症患儿的临床分析  

Clinical analysis of 11 cases of X-linked agammaglobulinemia

作　　者：夏世梅 袁梅 冯星星[1] 蒋鸿超[2] 段绍琴 李维熙 奎莉越[1] 周百灵[1] XIA Shimei;YUAN Mei;FENG Xingxing;JIANG Hongchao;DUAN Shaoqin;LI Weixi;KUI Liyue;ZHOU Bailing(Department of Clinical Laboratory,Kunming Children’s Hospital,Kunming 650100,Yunnan,China;Department of Infectious Disease,Kunming Children’s Hospital,Kunming 650100,Yunnan,China;Department of Hematology,Kunming Children’s Hospital,Kunming 650100,Yunnan,China;College of Chinese Medicine,Yunnan University of Chinese Medicine,Kunming 650100,Yunnan,China)

机构地区：[1]昆明市儿童医院检验科,云南昆明650100 [2]昆明市儿童医院感染科,云南昆明650100 [3]昆明市儿童医院血液肿瘤科,云南昆明650100 [4]云南中医药大学中药学院,云南昆明650500

出　　处：《中国现代医生》2023年第25期1-4,共4页China Modern Doctor

基　　金：国家自然科学基金项目(81960780);昆明市卫生科技人才培养项目(2020-SW-118)。

摘　　要：目的 分析云南地区X连锁无丙种球蛋白血症(X-linked agammaglobulinemia,XLA)患儿的临床特点及Bruton酪氨酸激酶(Bruton’s tyrosine kinase,BTK)基因的突变情况。方法 回顾性分析2018年1月至2022年6月昆明市儿童医院经基因检测确诊的11例XLA患儿的临床资料,采用Sanger测序方法 分析BTK基因的突变情况。结果 11例患儿均为男性,发病年龄0.25~6.00岁,中位年龄1.50岁;基因诊断确诊年龄0.33~12.00岁,中位年龄4.17岁。临床表现以呼吸道感染为主,大部分患儿感染较重,其次为生长发育迟缓。患儿免疫球蛋白水平均较低,外周血CD19+B淋巴细胞百分比几乎缺如。基因检测结果 显示剪接突变4例,错义突变3例,无义突变2例,缺失突变2例。其中发现1例新发突变,突变位点为c.1908+1G>C。结论 对婴幼儿时期发生严重感染及生长缓慢的男童,应尽早行基因检测明确诊断。Objective To analyze the clinical features of children with X-linked agammaglobulinemia(XLA)and the gene mutation of Bruton’s tyrosine kinase(BTK)in Yunnan region.Methods The clinical data of 11 children with XLA diagnosed by genetic testing in Kunming Children’s Hospital from January 2018 to June 2022 were retrospectively analyzed,and the mutation of BTK gene was analyzed by Sanger sequencing.Results All of the 11 children were male.The attack age range was from 0.25 to 6.00 years old,and the median age was 1.50 years old.The age at diagnosis range was from 0.33 to 12.00 years old,and the median age was 4.17 years old.The main clinical manifestations were respiratory tract infection and most children had severe infections,followed by growth retardation.The immunoglobulin level was low in all children,and the percentage of peripheral blood CD19+B lymphocytes was almost absent.The results of genetic testing showed 4 splicing mutations,3 missense mutations,2 nonsense mutations,and 2 deletion mutations.One new mutation was found and the mutation site was c.1908+1G>C.Conclusion For boys with severe infections and slow growth in infancy,genetic testing should be performed as soon as possible.

关 键 词：X连锁无丙种球蛋白血症 Bruton酪氨酸激酶 原发性免疫缺陷 

分 类 号：R715[医药卫生—妇产科学]