primary ciliary dyskinesia
Conditions
Interventions
PCD group:whole exome sequencing
Sponsors
Beijing Children's Hospital
Eligibility
Sex/Gender
Male
Age
No minimum to 18 Years
Inclusion criteria
Inclusion criteria: accordance with PCD or Kartagener syndrome diagnostic criteriaThe diagnostic criteria of PCD: (1)at least 5 cilia transverse section and section were prepared under the transmission electron microscope; (2) cross section of each at least 10 non-adjacent ciliated cells (at least 50 ciliated cells); (3) ciliary structure abnormality including absence, shorter or reduced number of dynein arms, absence or shorter of radiation, microtubule translocation, absence of central sheath, ciliary agenesia, basal anomaly; (4) >10% ciliary structure abnormality.The diagnostic criteria of Kartagener syndrome: (1) accordance with the diagnostic criteria of the PCD, at the same time with situs inversus and (or) dextrocardia; (2) with clinical diagnosis of Kartagener syndrome, who has the following triad: ? bronchiectasis; ? sinusitis or nasal polyps; ? transposition of viscera and (or) dextrocardia.
Exclusion criteria
Exclusion criteria: Patients who does not agree with the gene test
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| PCD gen; | — |
Countries
China
Contacts
Public ContactBaoping Xu
Outcome results
None listed