[1]丁星梅,张 冲,林 毅,等.5例儿童X连锁无丙种球蛋白血症报告及基因特征分析[J].现代检验医学杂志,2018,33(03):65-69.[doi:10.3969/j.issn.1671-7414.2018.03.017]
　DING Xing-mei,ZHANG Chong,LIN Yi,et al.Analysis of X-linked Agammaglobulinemia and Genetic Characteristics of 5 Cases[J].Journal of Modern Laboratory Medicine,2018,33(03):65-69.[doi:10.3969/j.issn.1671-7414.2018.03.017]
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5例儿童X连锁无丙种球蛋白血症报告及基因特征分析()
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《现代检验医学杂志》[ISSN:/CN:]

卷:
第33卷
期数:
2018年03期
页码:
65-69
栏目:
论著
出版日期:
2018-07-17

文章信息/Info

Title:
Analysis of X-linked Agammaglobulinemia and Genetic Characteristics of 5 Cases
文章编号:
1671-7414(2018)03-065-05
作者:
丁星梅1; 张 冲2; 林 毅2; 张秋业2
1.青岛大学,山东青岛 266003; 2.青岛大学附属医院,山东青岛 266003
Author(s):
DING Xing-mei1; ZHANG Chong2; LIN Yi2; ZHANG Qiu-ye2
1.Qingdao University,Shandong Qingdao 266003,China; 2.the Affiliated Hospital of Qingdao University,Shandong Qingdao 266003,China
关键词:
X连锁无丙种球蛋白血症;  人类酪氨酸激酶基因;  儿童
分类号:
R553; R446.7
DOI:
10.3969/j.issn.1671-7414.2018.03.017
文献标志码:
A
摘要:
目的 总结X连锁无丙种球蛋白血症(XLA)患儿的临床和免疫学特征及基因突变特点,提高对该病的认识。方法 对高度疑诊XLA的5例男童的临床和实验室资料进行回顾性总结,并采用二代测序+一代验证技术对患儿及父母进行BTK基因测序。结果 5例病儿均为男性、汉族,以反复下呼吸道感染为主要临床表现,并发鼻炎、鼻窦炎2例,关节炎1例,血小板减少性紫癜1例; 体格检查显示浅表淋巴结和扁桃体缺如; 血清免疫球蛋白和外周血B细胞显著降低; 基因检测示5例患儿均存在人类酪氨酸激酶( BTK)基因半合子突变,均来自母亲,分别为c.1349+5G>T,c.1154deIC,p.(Pro386fs),c.1632-1G>T,c.110T>G和c.1751C>A。结论男性患儿、反复呼吸道感染、扁桃体及外周淋巴结缺如、血清免疫球蛋白和外周血B细胞显著降低或缺如是XLA的重要特征,BTK基因突变是确诊依据; BTK基因c.1632-1G>T和c.1751C>A突变为首次报道。
Abstract:
Abstract:Objective To summarize the clinical and immunological characteristics and gene mutation characteristics of children with X-linked agagoglobulemia(XLA),so as to improve the understanding of the disease.Methods Carried on the retrospective analysis for the clinical and laboratory data of 5 boys who were highly suspected of XLA,and did the BTK gene sequencing for children and their parents with the two generation sequencing generation verification techniques.Results 5 cases were all males and Han nationality,with main clinical manifestationsof recurrent lower respiratory tract infection,accompanying 2 cases with rhinitis and sinusitis,1 cases of arthritis,1 case of thrombocytopenic purpura.Physical examination revealed a superficial lymph node and tonsil deletion,and serum immunoglobulin and peripheral blood B cells significantly decreased; BTK genehemizygous mutations were proved by the gene detection in 5 these cases,and they were all from the mother,which were c.1349+5G>T,c.1154deIC,p.(Pro386fs),c.1632-1G>T,c.110T>G and c.1751C>A respectively.ConclusionMale patients,the important feature of XLA could be summarized as recurrent respiratory tract infection,tonsil and absence of peripheral lymph nodes,significant decrease or absence of serum immunoglobulin and B cells in peripheral blood.BTK gene mutation is the basis of diagnosis; BTK gene c.1632-1G>Tand c.1751C>A mutations were reported for the first time.

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备注/Memo

备注/Memo:
作者简介:丁星梅(1982-),女,本科,主治医师,研究方向:儿童免疫。 通讯作者:张秋业(1963-),男,教授,硕士生导师,研究方向:儿童肾病风湿免疫,青岛大学附属医院心肾免疫儿科主任,现任亚洲小儿肾脏病学会会员,中华儿科学会临床免疫学组委员,山东省儿科学会肾脏病学组组长,《中国误诊学研究》特邀编委,E-mail:qyzh9816@163.com。
更新日期/Last Update: 2018-04-16