Registry Study on Primary Ciliary Dyskinesia in Chinese Children

Registry Study on Primary Ciliary Dyskinesia in Chinese children-a Multicenter, Prospective Cohort Study

This study is a multicenter, prospective cohort study of patients diagnosed with primary ciliary dyskinesia, the clinical information of recruited patients, including clinical manifestations, lung function, chest imaging, quality of life and other indicators, will be followed for 10 years.

All new cases of primary ciliary dyskinesia which was confirmed or diagnosed at each center from the beginning of the study are made the investigation of the clinical manifestations and specific tests by the standard diagnostic process.Then all the patients' following clinical data will be followed for 10 years (once per six month): clinical manifestations, lung function, chest imaging (once per year), quality of life and other indicators.

Inclusion Criteria: A included patient must be coincident with all the following items:

• Age 0~18 years old
• Any organ system symptoms consistent with PCD and being conform to the clinical diagnostic standard of Katergener syndrome or being coincident with at least two following specific tests:
• Abnormal ciliary beat frequency or movement by the high speed photography microscope
• Abnormal ciliary structure through the electronic microscopy
• The nasal NO decreased significantly
• The target gene mutation found
• The clinical diagnostic criteria of the Katergener syndrome: ① bronchial expansion; ② sinusitis or nasal polyps; ③ transposition of viscera and (or) dextrocardia.
• If all the typical clinical manifestations but only 1 specific test with positive results, can also be included in the registration of suspected PCD cases
• Consent to provide the related clinical specimen to the certain hospital
• The guardians of the patients fully understand the purpose of the study, volunteer their children to participate in this study, and sign informed consent.

Exclusion Criteria: Subject will be excluded if she or he has one of the following:

• It is unable to provide complete medical records or the current condition can not accept the diagnosis process
• She or he cannot agree to participate in the study.