摘要
目的:总结2例儿童支气管哮喘合并常见变异型免疫缺陷病(Common Variable Immunodeficiency, CVID)患儿的临床表现和遗传学特征,并进行相关文献复习,以期提高临床医生对该病的认识。方法:回顾性分析2016年1月至2022年12月青岛大学附属医院儿童呼吸科诊治的2例儿童哮喘合并CVID患儿的临床资料和遗传学特征。以Child Asthma、Immune Deficiency、CVID、Gene或基因CYBB为检索词,检索PubMed、中国知网及万方数据库2013年1月~2023年10月相关文献。结果:例1患儿表现为反复发作的咳嗽、气喘,长期使用布地奈德1mg雾化吸入(1~2次/天)治疗,减药困难,反复感染,血清IgG波动于2~7.27 g/L之间,2021.1行基因检测结果显示CYBB基因半合子变异,c.897 + 4C > T,来源于母亲。例2患儿表现为长期咳嗽、反复感染及免疫功能低下,血清免疫球蛋白IgG波动于3.73~6.61 g/L。2022.5行基因检测显示未发现明显致病基因。结论:支气管哮喘合并CVID的患儿常表现为难治性哮喘,掌握其特征,早期识别,必要时行基因检查,有助于提高临床诊治水平。
Objective: To summarize the clinical manifestations and genetic characteristics of 2 children with bronchial asthma combined with CVID, and review the literature to improve understanding of the disease. Methods: The clinical data and genetic characteristics of 2 children with asthma and CVID who were treated in the outpatient and inpatient pediatric respiratory department of Qingdao University Affiliated Hospital from 2016 to 2022 were retrospectively analyzed, using Child Asthma, Immunodeficiency, CVID, Gene or gene CYBB as search terms to search relevant literature in Pub-Med, China National Knowledge Infrastructure and Wan Fang Database from January 2013 to Octo-ber 2023. Results: The child in Example 1 showed long-term treatment with 1 mg budesonide and 2 ml normal saline aerosol inhalation (1~2 times/day). It was difficult to reduce the dose, and he suf-fered from repeated infections. The IgG fluctuated between 2~7.27 g/L. The genetic test results in January 2021 showed that the CYBB gene hemizygous mutation, c.897 + 4C > T, originated from the mother. The child in Case 2 showed long-term cough, repeated infections and immune deficiency, and the immunoglobulin IgG fluctuated between 3.73~6.61 g/L. A genetic test in 2022.5 showed no obvious positive genes. Conclusion: The clinical manifestations of childhood bronchial asthma and CVID are similar. Understanding their characteristics, early identification, and genetic testing when necessary can help improve clinical diagnosis and treatment.
出处
《临床医学进展》
2024年第2期3404-3413,共10页
Advances in Clinical Medicine
