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国际临床研究杂志

International Journal of Clinical Research

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International Journal of Clinical Research. 2022; 6: (2) ; 10.12208/j.ijcr.20220057 .

Gastrointestinal Manifestations in X-linked Agammaglobulinemia
X-连锁无丙种球蛋白血症的消化道表现

作者： 毛小兰 *

重庆医科大学附属儿童医院风湿免疫科，国家儿童健康与疾病临床医学研究中心，儿童发育疾病研究教育部重点实验室，儿童感染免疫重庆市重点实验室 重庆

*通讯作者： 毛小兰,单位：重庆医科大学附属儿童医院风湿免疫科，国家儿童健康与疾病临床医学研究中心，儿童发育疾病研究教育部重点实验室，儿童感染免疫重庆市重点实验室 重庆；

收录截图（CNKI-Scholar）

引用本文: 毛小兰 X-连锁无丙种球蛋白血症的消化道表现[J]. 国际临床研究杂志, 2022; 6: (2) : 63-69.
Published: 2022/4/24 18:11:07

摘要

X-连锁无丙种球蛋白血症（XLA）是BTK基因突变导致的原发性免疫缺陷病，患者外周血中B淋巴细胞明显减少（＜2%），各型丙种球蛋白水平低下，临床症状为反复严重的感染。目前主要受到关注是呼吸道症状，但消化道症状在患者中并不罕见，值得进一步研究。本文中，我们对XLA患者消化道症状的临床表现、实验室及影像学表现、可能的发生机制和诊断治疗进行了综述，以期为XLA的临床诊疗及研究方向提供新的思路。

关键词： X-连锁无丙种球蛋白血症；布鲁顿酪氨酸蛋白激酶；消化道表现；炎症性肠病

Abstract

X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disease caused by BTK gene mutation. The B lymphocytes in the patient's peripheral blood are significantly reduced (< 2%), the level of various types of gammaglobulin is low, and the clinical symptom is repeated and serious infection. Now, the main attention isaboutrespiratory symptomsin XLA, but gastrointestinal symptoms are not rare, which is worthy to study. In this paper, we reviewed the clinical manifestations, Laboratory and imaging findings, possible mechanisms, diagnosis and treatment of gastrointestinal symptoms in patients with XLA, to provide new ideas for the clinical diagnosis, treatment and research of XLA.

Key words： X-linked Agammaglobulinemia; Bruton Tyrosine Kinase; Gastrointestinal Manifestations; Inflammatory Bowel Disease

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