title: Clinical analysis of patients with primary ciliary dyskinesia in mainland China.
abstract: OBJECTIVE
  Primary ciliary dyskinesia (PCD) is a rare, genetic disorder featured with dysfunctional motility of cilia. Clinical presentations of PCD include situs inversus, repeated respiratory tract infections, otitis media, sinusitis and infertility. This study aims to provide clinical strategies on diagnosis and treatment of PCD.
  
  
  METHODS
  Clinical data of seven patients diagnosed as PCD in Zhongshan Hospital, Fudan University were analyzed. We also extracted data from other cases in mainland China from the China Academic Journals Full-Text Database by the end of 2012. A total of 127 cases of PCD were summarized and analyzed in this study.
  
  
  RESULTS
  Seven patients in Zhongshan Hospital, Fudan University were finally confirmed to have PCD. All of them had clinical history of recurrent respiratory infection. Imaging analysis showed varying degrees of bronchiectasis. Pulmonary function tests in four patients showed combined obstructive and restrictive patterns. Three cases were confirmed to have PCD by electron microscopy. We then further extracted information from literature for those 127 PCD patients in mainland China. All of them had chronic respiratory infection. Seven cases were complicated with recurrent otitis media and 15 cases were complicated with infertility. A total of 119 patients were diagnosed with situs inversus totalis (94%). Among those 127 patients, only 9 patients' diagnosis was confirmed by electron microscopy. Four patients received sinus resection, and one patient received pulmonary lobectomy due to recurrent hemoptysis. One patient died of massive hemoptysis.
  
  
  CONCLUSIONS
  Being a rare disease and easily confused with uncomplicated bronchiectasis, PCD diagnosis warrants particular attention. Recurrent respiratory infection, especially situs inversus could be the most important indicator of this disease.
authors.affiliation: Shanghai Respiratory Research Institute, Department of Pulmonary Medicine, Zhongshan Hospital, Fudan University, Shanghai, China.|Department of Pulmonary Medicine, The Forth People's Hospital of Taizhou, Taizhou, Jiangsu Province, China.
authors.forename: Yueqin
authors.initials: Y
authors.lastname: Cao
authors.affiliation: Shanghai Respiratory Research Institute, Department of Pulmonary Medicine, Zhongshan Hospital, Fudan University, Shanghai, China. shao.changzhou@zs-hospital.sh.cn.
authors.forename: Changzhou
authors.initials: C
authors.lastname: Shao
authors.affiliation: Shanghai Respiratory Research Institute, Department of Pulmonary Medicine, Zhongshan Hospital, Fudan University, Shanghai, China.
authors.forename: Yuanlin
authors.initials: Y
authors.lastname: Song
authors.affiliation: Shanghai Respiratory Research Institute, Department of Pulmonary Medicine, Zhongshan Hospital, Fudan University, Shanghai, China.
authors.forename: Chunxue
authors.initials: C
authors.lastname: Bai
authors.affiliation: Shanghai Respiratory Research Institute, Department of Pulmonary Medicine, Zhongshan Hospital, Fudan University, Shanghai, China.
authors.forename: Lixian
authors.initials: L
authors.lastname: He
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002681:China; D019468:Disease Management; D005260:Female; D006801:Humans; D007619:Kartagener Syndrome / Q000175:diagnosis* / Q000503:physiopathology / Q000628:therapy; D008297:Male; D008854:Microscopy, Electron; D055815:Young Adult
keywords: bronchiectasis; mainland China; misdiagnosis; primary ciliary dyskinesia; treatment