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[Clinical characteristics of primary ciliary dyskinesia].
Bai, Yin; Zhang, Jing; You, Shaohua; Ji, Lingchao; Jia, Jingjie; Wang, Hongtian.
Afiliación
  • Bai Y; Department of Otorhinolaryngology Head Neck Surgery, People Liberation Army General Hospital, Beijing 100853, China.
  • Zhang J; Department of Otorhinolaryngology Head Neck Surgery, People Liberation Army General Hospital, Beijing 100853, China.
  • You S; Department of Otorhinolaryngology Head Neck Surgery, People Liberation Army General Hospital, Beijing 100853, China.
  • Ji L; Department of Otorhinolaryngology Head Neck Surgery, People Liberation Army General Hospital, Beijing 100853, China.
  • Jia J; Department of Otorhinolaryngology Head Neck Surgery, People Liberation Army General Hospital, Beijing 100853, China.
  • Wang H; Department of Otorhinolaryngology Head Neck Surgery, People Liberation Army General Hospital, Beijing 100853, China. Email: wht301@263.net.
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi ; 49(2): 115-20, 2014 Feb.
Article en Zh | MEDLINE | ID: mdl-24742509
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, rhino-sinus 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.
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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Kartagener / Cilios / Óxido Nítrico Tipo de estudio: Observational_studies Límite: Adult / Child / Female / Humans / Male / Middle aged Idioma: Zh Revista: Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi Año: 2014 Tipo del documento: Article País de afiliación: China Pais de publicación: China
Buscar en Google
Añadir a Mi BVS
Imprimir
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PubMed Links

Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Kartagener / Cilios / Óxido Nítrico Tipo de estudio: Observational_studies Límite: Adult / Child / Female / Humans / Male / Middle aged Idioma: Zh Revista: Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi Año: 2014 Tipo del documento: Article País de afiliación: China Pais de publicación: China