Back to Search
Start Over
Recent advances in primary ciliary dyskinesia
- Source :
- Auris Nasus Larynx. 43:229-236
- Publication Year :
- 2016
- Publisher :
- Elsevier BV, 2016.
-
Abstract
- Primary ciliary dyskinesia (PCD) is a genetic disease inherited in an autosomal recessive manner. The prevalence of PCD is estimated to be 1 in 20,000 live births. Congenital abnormality of the primary cilia results in situs inversus in 50% of patients. Decreased function of motile cilia causes chronic rhinosinusitis, otitis media with effusion, bronchiectasis and infertility. Cases with situs inversus are considered to show "Kartagener's syndrome", and diagnosis is not difficult. However, in cases without situs inversus, the diagnosis is much more troublesome. PCD without situs inversus is thus probably underdiagnosed. Prolonged chronic cough represents an important symptom that is seen in most patients. The diagnosis of PCD requires the presence of the characteristic clinical phenotypes and either: (1) specific ciliary ultrastructural defects identified by transmission electron microscopy in biopsy samples of respiratory epithelium; or (2) identification of mutation in one of the genes known to be associated with PCD. Nasal nitric oxide concentration is extremely low in PCD, and this could be useful for screening of the disease. At present, no fundamental therapies are available for PCD. Diagnosis in the early stages is important to prevent progression of bronchiectasis and deterioration of lung function by guidance for daily life, immunization, cessation of smoking and prompt therapy at the time of respiratory tract infection. Since PCD is inherited in an autosomal-recessive manner, genetic counseling is necessary after definite diagnosis.
- Subjects :
- Infertility
congenital, hereditary, and neonatal diseases and abnormalities
Pathology
medicine.medical_specialty
Genetic counseling
Genetic Counseling
Respiratory Mucosa
Nitric Oxide
03 medical and health sciences
0302 clinical medicine
Microscopy, Electron, Transmission
Early Medical Intervention
otorhinolaryngologic diseases
medicine
Humans
Sinusitis
030223 otorhinolaryngology
Respiratory Tract Infections
Rhinitis
Primary ciliary dyskinesia
Bronchiectasis
Kartagener Syndrome
business.industry
Cilium
Vaccination
General Medicine
medicine.disease
Otitis Media
Situs inversus
Chronic cough
030228 respiratory system
Otorhinolaryngology
Chronic Disease
Mutation
Motile cilium
Smoking Cessation
Surgery
Nasal Cavity
medicine.symptom
business
Subjects
Details
- ISSN :
- 03858146
- Volume :
- 43
- Database :
- OpenAIRE
- Journal :
- Auris Nasus Larynx
- Accession number :
- edsair.doi.dedup.....ca46253f627f0a33111c01e92382222d