Primary ciliary dyskinesia with HYDIN gene mutations in a child and literature review
10.3760/cma.j.issn.0578-1310.2017.04.014
- VernacularTitle: HYDIN基因突变致儿童原发性纤毛运动障碍一例并文献复习
- Author:
Lili CHEN
1
;
Yungang YANG
;
Jinzhun WU
;
Xianrui CHEN
Author Information
1. Department of Pediatrics, the First Affiliated Hospital of Xiamen University, Xiamen 361000, China
- Publication Type:Clinical Trail
- Keywords:
Ciliary motility disorder;
Diagnosis;
Gene;
Child
- From:
Chinese Journal of Pediatrics
2017;55(4):304-307
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To review children′s primary ciliary dyskinesia (PCD) in the pathogenesis, clinical manifestation, diagnosis and treatment.
Method: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.
Result: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.
Conclusion: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.
