[Clinical features of primary ciliary dyskinesia].
OBJECTIVE
To investigate the clinical features, diagnosis and treatment of primary ciliary dyskinesia (PCD).


METHODS
Three cases of PCD received endoscopic sinus surgery and were followed up for life quality and recovery. Among these 3 cases, two were twin brothers and the other girl was twin born with a healthy brother. The mucosa of inferior turbinate was extracted prior to the operation without narcotic and decongestant. The ultrastructure of mucosal cilia was detected with electron microscope. Nine exons of gene DNAH5 and chromosome in one case and her fraternal twin were evaluated.


RESULTS
Nasal and sinus CT imaging of the 3 cases showed chronic pansinusitis (1 case accompanied with situs inversus according with the diagnosis of Kartagener syndrome). The nasal polyp was resected, and the sinuses were opened. The twin brothers received the adenoidectomy. All patients felt nasal ventilation improved while the surgical field still covered with thick discharges during follow-up for 2 - 4 years. Ciliary ultrastructures of the three cases showed lateral dynein absent, the sequence of 9 exons of DNAH5 and chromosome presented no change in the fraternal twins.


CONCLUSIONS
Surgery could improve the symptoms of sinusitis in PCD. Change of ciliary ultrastructure was an important indication of its pathological changes and molecular biology evaluation needs further study.
Wei
Yong-Xiang
YX
Department of Otorhinolaryngology Head and Neck Surgery, Beijing Tongren Hospital, Capital University of Medical Sciences, Beijing Institute of Otorhinolaryngology, Beijing 100730, China. weiyongxiang@vip.sina.com
Xing
Fei-Hong
FH
Miao
Xu-Tao
XT
Liu
Xiao-Chao
XC
Zhang
Xin
X
Lin
Jing
J
Sun
Yi-Lin
YL
Han
De-Min
DM
D056444:Axonemal Dyneins / Q000378:metabolism; D002648:Child; D002923:Cilia / Q000648:ultrastructure; D005091:Exons; D005260:Female; D006801:Humans; D007619:Kartagener Syndrome / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D008297:Male; D012852:Sinusitis / Q000175:diagnosis / Q000209:etiology / Q000235:genetics; D055815:Young Adult
D056444:Axonemal Dyneins; C497507:DNAH5 protein, human