Chen L L, Yang Y G, Wu J Z, Chen X R
Department of Pediatrics, the First Affiliated Hospital of Xiamen University, Xiamen 361000, China.
Zhonghua Er Ke Za Zhi. 2017 Apr 2;55(4):304-307. doi: 10.3760/cma.j.issn.0578-1310.2017.04.014.
To review children's primary ciliary dyskinesia (PCD) in the pathogenesis, clinical manifestation, diagnosis and treatment. To summarize and analyze the clinical data of a patient who was admitted to the first affiliated hospital of Xiamen University with primary ciliary dyskinesia in April 2014 while referring to related literature. An 11 years old boy, weighting about 22 kg, had a course of more than 10 years with repeated cough, stuffy and runny nose shortly after the birth. Examinations after admission to hospital showed that he presented with visible clubbing, bilateral paranasal sinus area tenderness, pharynx posterior wall with visible yellow pussy stuff drip and bilateral lung had scattered wet rales. Auxiliary examination revealed bilateral maxillary sinus, ethmoid sinus inflammation and bronchitis with left lower lung bronchiectasis. Fiberoptic bronchoscopy discovered congestion and a lot of sputum; ciliary biopsy pathology displayed that cilia were sparse and partial cilia 9+ 2 microtubules structural abnormalities. Full sequence of exon gene sequencing revealed two mutations located at chromosome 16 chr16: 71061369 (non-coding regions) and chr16: 70993591 (coding). Two novel mutations m. 3362A>G(E20) and c. 6101G>A(E39) in exon 16 of the HYDIN gene were identified. With the" ciliary motility disorder, gene" as keywords , the CNKI, Wanfang digital knowledge service platform and PubMed were searched for relevant articles from the establishment to July 2016. The studies retrieved included 9 cases and these cases were summarized. Comprehensive analysis showed that HYDIN gene mutations related PCD patients had the typical PCD performance such as repeatedly wet cough, sinusitis, bronchiectasis, and otitis media. The majority of patients have a history of acute respiratory distress syndrome in infancy and no visceral dislocation was not found. Most of the patients had no obvious structural abnormalities in cilia electron microscopic examination. The PCD patients with HYDIN genes mutations have clinical manifestations such as sinusitis, otitis media, bronchiectasis but without transposition of viscera. Cilia structure can be normal under the electron microscopic examination in some of patients.
综述儿童原发性纤毛运动障碍（PCD）的发病机制、临床表现、诊断及治疗。回顾性分析2014年4月厦门大学附属第一医院收治的1例原发性纤毛运动障碍患儿的临床资料，并复习相关文献。患儿，男，11岁，体重约22 kg，自出生后不久即反复咳嗽、鼻塞、流涕，病程10余年。入院检查可见杵状指，双侧鼻窦区压痛，咽后壁可见黄色脓性分泌物，双肺可闻及散在湿啰音。辅助检查提示双侧上颌窦、筛窦炎，支气管炎伴左下肺支气管扩张。纤维支气管镜检查可见充血及大量痰液；纤毛活检病理显示纤毛稀疏，部分纤毛9+2微管结构异常。外显子基因全序列测序发现2个突变位点，分别位于16号染色体chr16: 71061369（非编码区）和chr16: 70993591（编码区）。在HYDIN基因第16外显子中鉴定出2个新的突变，分别为m. 3362A>G（E20）和c. 6101G>A（E39）。以“纤毛运动障碍，基因”为关键词，检索中国知网、万方数据知识服务平台及PubMed数据库中自建库至2016年7月的相关文献，纳入9例研究并进行总结。综合分析显示，与HYDIN基因突变相关的PCD患者具有反复湿性咳嗽、鼻窦炎、支气管扩张及中耳炎等典型的PCD表现。多数患者婴儿期有急性呼吸窘迫综合征病史，未发现内脏转位。多数患者纤毛电镜检查无明显结构异常。具有HYDIN基因突变的PCD患者有鼻窦炎、中耳炎、支气管扩张等临床表现，但无内脏转位。部分患者纤毛电镜下结构可正常。
