摘要
目的探讨DNAH5基因突变所致原发性纤毛运动障碍(PCD)的临床特点、诊治方法,以提高对该病的认识。方法回顾性分析山东大学齐鲁医院(青岛)收治的1例儿童PCD患者的临床资料,包括主要症状、化验检查、影像学表现、基因检测、透射电镜(TEM)检查结果及诊疗过程。结果该患儿有新生儿期呼吸窘迫、婴儿期开始出现的反复咳嗽咳痰、支气管扩张及慢性鼻窦炎等PCD特征性表现,支气管黏膜TEM检查未见纤毛结构,全外显子测序提示DNAH5基因存在致病性复合杂合变异,PCD诊断明确。急性期给予抗感染及气道廓清治疗,并定期随访。结论PCD临床表现多样,缺乏单一的特异性诊断方法,对可疑的患者需综合分析高速摄像显微分析、免疫荧光分析、TEM以及基因检测等多种检查结果,进一步确定诊断。目前PCD尚无治愈方法,治疗目的主要为延缓疾病进展。
Objective To explore the clinical characteristics,diagnosis and treatment of primary ciliary dyskinesia(PCD)caused by DNAH5 gene mutation.Methods The clinical data of a child with PCD were retrospectively analyzed,including the main symptoms,laboratory examination results,imaging findings,gene detection results,transmission electron microscopy(TEM)results and the diagnosis and treatment progress.Results The child had respiratory distress in the neonatal period;repeated cough and sputum from infancy;bronchiectasis and chronic sinusitis.TEM of bronchial mucosa revealed no cilium and the whole exon sequencing indicated a pathogenic compound heterozygous mutation of DNAH5 gene.The diagnosis of PCD was confirmed.Anti-infection and airway clearance therapy were given in the acute stage,and regular follow-up was performed.Conclusion PCD has a variety of clinical manifestations and lacks a single specific diagnosis test.For suspicious patients,a comprehensive analysis of high-speed video microscopy,immunofluorescence microscopy,TEM and gene detection is required to confirm the diagnosis.Currently,there is no cure for PCD,the aim of treatment is to delay the progression of the disease.
作者
王陆敏
周士英
黄启坤
刘艳丽
WANG Lumin;ZHOU Shiying;HUANG Qikun;LIU Yanli(Department of Pediatric,Qilu Hospital(Qingdao),Cheeloo College of Medicine,Shandong University,Qingdao 266035,Shandong,China)
出处
《山东大学学报（医学版）》
CAS
北大核心
2022年第8期103-108,共6页
Journal of Shandong University:Health Sciences
关键词
原发性纤毛运动障碍
支气管扩张
慢性鼻窦炎
透射电镜
基因检测
Primary ciliary dyskinesia
Bronchiectasis
Chronic sinusitis
Transmission electron microscopy
Gene detection
作者简介
通信作者:刘艳丽。E-mail:lylzzy326@163.com
