Clinical characteristics of primary ciliary dyskinesia
10.3760/cma.j.issn.1673-0860.2014.02.005
- VernacularTitle:原发性纤毛运动障碍的临床特征分析
- Author:
Yin BAI
1
;
Jing ZHANG
;
Shaohua YOU
;
Lingchao JI
;
Jingjie JIA
;
Hongtian WANG
Author Information
1. 100853北京,解放军总医院耳鼻咽喉头颈外科
- Keywords:
Kartagener syndrome;
Axonemal dyneins;
Cilia;
Nitric oxide;
Nasal cavity
- From:
Chinese Journal of Otorhinolaryngology Head and Neck Surgery
2014;49(2):115-120
- CountryChina
- Language:Chinese
-
Abstract:
Objective To analyze the clinical characteristics of primary ciliary dyskinesia(PCD) so as to improve the diagnostic level of this rarely seen disease.Methods Ten patients with PCD were retrospectively reviewed,the medical history,symptoms,signs,lung CT or chest X-ray,rhinosinus CT scan,nasal nitric oxide (NO) levels,nasal ciliary ultrastructure,DNAH5 and DNAH11 genetic mutation,as well as treatment outcome were analyzed.Results All 10 patients had recurrent chronic sinusitis,otitis media,bronchitis/bronchiectasis since childhood.Nine cases with translocation of heart and big vessels were diagnosed as Kartagener syndrome.One woman was suffering from barrenness and one man sterility after marriage for long time without birth control.Nasal NO levels were significantly lower in 2 patients with PCD but it was almost normal in one patient.Ciliary ultrastructure investigated by transmission electron microscope were almost normal in 4 cases without missing of inner or outer dynein arms.Two cases taking exome capture sequencing showed that mutations happened in DNAH5 and DNAH11.Five subjects underwenting sanger sequencing on 6 common exon fragments of DNAH5 and DNAH11 did not show any abnormality.Ten cases took medication therapy,while 5 patients once underwent functional endoscope sinus surgery.All of the 10 patients had improvement of their symptoms and signs after treatment.Conclusions The PCD is so rare in clinic that it is easily misdiagnosed.Clinical characteristics,nasal NO levels,ciliary ultrastructure and genetic testing are significant for clinical diagnosis.
