首发症状为反复喘息发作的原发性纤毛运动障碍2例并文献复习  

Analysis of Two Cases of Primary Ciliary Dyskinesia with Recurrent Wheezing as the First Symptom and Literature Review

作　　者：张玉玲 荣杰鑫 郝晓飞 李瑞君 Zhang Yuling;Rong Jiexin;Hao Xiaofei;Li Ruijun(Inner Mongolia Children's Hospital,Inner Mongolia Maternal and Child Health Care Hospital,Inner Mongolia Hohhot 010020,China)

机构地区：[1]内蒙古自治区儿童医院,内蒙古自治区妇幼保健院,内蒙古呼和浩特010020

出　　处：《儿科药学杂志》2021年第6期27-30,共4页Journal of Pediatric Pharmacy

摘　　要：目的:探讨以反复喘息发作为首发症状的原发性纤毛运动障碍患儿的诊治。方法:回顾性分析2018年2月首次就诊于内蒙古妇幼保健院儿内科的2例儿童原发性纤毛运动障碍患儿的临床资料,并进行文献复习。以"原发性纤毛运动障碍""primary ciliary dyskinesia"为检索词,检索中国知网、万方数据库、PubMed数据库,检索时限为建库至2018年3月,选取临床资料报道完整的文献。结果:2例患儿因反复发作喘息,按正规哮喘治疗效果差引起临床医师重视,进一步检查2例患儿均无内脏转位,有鼻窦炎症状,病情稳定后电镜下气管黏膜纤毛活检存在纤毛结构异常。第1例患儿行基因检测发现1个突变点,但无明确基因表型关系。2例患儿均给予抗感染治疗后症状好转。结论:对于大龄儿童不典型哮喘或病情不能用哮喘解释时或反复出现呼吸道感染症状患儿(特别是学龄期后儿童),不论有无内脏转位,需警惕原发性纤毛运动障碍可能。Objective: To probe into the diagnosis and treatment of children with primary ciliary dyskinesia with recurrent wheezing as the first symptom. Methods: Clinical data of two children with primary cilia dyskinesia who first visited Inner Mongolia Maternal and Child Health Care Hospital in Feb. 2018 were retrospectively analyzed and the literature were reviewed. The search term Primary Ciliary Dyskinesia(in Chinese and English) was retrieved in CNKI, Wanfang database and PubMed. The retrieval time was from the establishment of the database to Mar. 2018, and the literature with complete clinical data were selected. Results: Two children with recurrent wheezing and poor results of regular asthma treatment attracted the attention of clinicians. Further examination showed that there was no visceral transposition in two children, but there were symptoms of sinusitis. After the condition was stable, the ciliary biopsy of tracheal mucosa showed abnormal cilia structure under electron microscope. One mutation was found in the first child by genetic testing, but no phenotypic relationship was identified. The symptoms of both children were improved after anti-infective treatment. Conclusion: For older children suffering from atypical asthma or when the condition cannot be explained by asthma, or children with recurrent respiratory infection symptoms(especially after school age), regardless of visceral transposition, it is necessary to be alert to the possibility of primary ciliary dyskinesia.

关 键 词：原发性纤毛运动障碍 卡特金纳综合征 喘息发作 内脏转位 

分 类 号：R725.1[医药卫生—儿科]