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Primary Ciliary Dyskinesia.


GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2007 Jan 24 [updated 2015 Sep 3].

Author information

Department of Pathology and Laboratory Medicine, Marsico Lung Institute, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina
Department of Medicine, Pulmonary and Critical Care Medicine, Marsico Lung Institute, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina
Department of Pediatrics, Marsico Lung Institute, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina



Primary ciliary dyskinesia (PCD) is associated with situs abnormalities, abnormal sperm motility, and abnormal ciliary structure and function that result in retention of mucus and bacteria in the respiratory tract leading to chronic otosinopulmonary disease. More than 75% of full-term neonates with PCD have "neonatal respiratory distress" requiring supplemental oxygen for days to weeks. Chronic airway infection, apparent in early childhood, results in bronchiectasis that is almost uniformly present in adulthood. Nasal congestion and sinus infections, apparent in early childhood, persist through adulthood. Chronic/recurrent ear infection, apparent in most young children, can be associated with transient or later irreversible hearing loss. Situs inversus totalis (mirror-image reversal of all visceral organs with no apparent physiologic consequences) is present in 40%-50% of individuals with PCD; heterotaxy (discordance of right and left patterns of ordinarily asymmetric structures that can be associated with significant malformations) is present in approximately 12%. Virtually all males with PCD are infertile as a result of abnormal sperm motility.


The diagnosis of PCD can be established by clinical phenotype and by ciliary ultrastructural analysis or molecular genetic testing. About two thirds of probands can be diagnosed by the presence of biallelic pathogenic variants in one of the 32 genes known to be associated with PCD.


Treatment of manifestations: Aggressive measures to enhance clearance of mucus (chest percussion and postural drainage, oscillatory vest, breathing maneuvers to facilitate clearance of distal airways) and prompt antibiotic therapy for bacterial infections of the airways (bronchitis, sinusitis, and otitis media); consideration of lobectomy for localized bronchiectasis; lung transplantation for end-stage lung disease; sinus surgery for extensive sinus infections; consideration of PE tube placement for chronic otitis media; speech therapy and hearing aids as needed. Surgical intervention as needed for congenital heart disease. ICSI (intracytoplasmic sperm injection) or artificial insemination by donor sperm (AIDS) for male infertility. Prevention of secondary complications: Routine immunizations (including influenza vaccine and pneumococcal vaccine) to prevent respiratory infections; education about infection control including attention to hand washing, avoidance of sick contacts, and proper cleaning/disinfecting of respiratory devices; early use of antibiotics for respiratory illnesses (directed by prior respiratory cultures). Surveillance: Follow up by a pulmonologist to monitor lung function and pathogens in sputum cultures as well as to assess pulmonary disease extent/progression; for those with chronic otitis media, routine hearing evaluation until the teenage years. Agents/circumstances to avoid: Cough suppressants; exposure to respiratory pathogens, tobacco smoke, and other air pollutants and respiratory irritants.


PCD is inherited in an autosomal recessive manner. The parents of an affected individual are obligate heterozygotes and therefore carry one allele with a pathogenic variant. Heterozygotes (carriers) are asymptomatic. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk are possible if the pathogenic variants in the family are known.

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