Lucas JS et al: Diagnostic methods in primary ciliary dyskinesia. Paediatr Respir Rev. 18:8-17, 2016
Takeuchi K et al: Recent advances in primary ciliary dyskinesia. Auris Nasus Larynx. 43(3):229-36, 2016
Garrod AS et al: Airway ciliary dysfunction and sinopulmonary symptoms in patients with congenital heart disease. Ann Am Thorac Soc. 11(9):1426-32, 2014
Javidan-Nejad C et al: Bronchiectasis. Radiol Clin North Am. 47(2):289-306, 2009
Jain K et al: Primary ciliary dyskinesia in the paediatric population: range and severity of radiological findings in a cohort of patients receiving tertiary care. Clin Radiol. 62(10):986-93, 2007
Kennedy MP et al: High-resolution CT of patients with primary ciliary dyskinesia. AJR Am J Roentgenol. 188(5):1232-8, 2007
Kennedy MP et al: Primary ciliary dyskinesia and upper airway diseases. Curr Allergy Asthma Rep. 6(6):513-7, 2006
Berdon WE et al: Situs inversus, bronchiectasis, and sinusitis and its relation to immotile cilia: history of the diseases and their discoverers-Manes Kartagener and Bjorn Afzelius. Pediatr Radiol. 34(1):38-42, 2004
Biggart E et al: Primary ciliary dyskinesia syndrome associated with abnormal ciliary orientation in infants. Eur Respir J. 17(3):444-8, 2001
Cowan MJ et al: Disorders of ciliary motility. Am J Med Sci. 321(1):3-10, 2001
Related Anatomy
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References
Tables
Tables
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Clinical Issues
Diagnostic Checklist
TERMINOLOGY
Abbreviations
Primary ciliary dyskinesia (PCD)
Synonyms
Dyskinetic cilia syndrome
Immotile cilia syndrome: Misnomer as ciliary motion is present but abnormal
Definitions
Primary ciliary dyskinesia (PCD)
Genetic disorder causing ciliary defects and impaired mucociliary clearance
Mucociliary dysfunction and chronic otosinopulmonary disease
Abnormalities of situs in > 50% of cases; congenital heart disease in 25%
Kartagener syndrome
Triad of situs inversus, sinusitis &/or nasal polyposis, and bronchiectasis
50% of patients with PCD
Kartagener-Afzelius syndrome
Kartagener described sinusitis, bronchiectasis, and situs inversus
Afzelius described associated infertility; structural abnormalities of motile cilia and sperm
IMAGING
General Features
Radiographic Findings
CT Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Gross Pathologic & Surgical Features
Microscopic Features
CLINICAL ISSUES
Presentation
Demographics
Diagnosis
Screening
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Selected References
Lucas JS et al: Primary ciliary dyskinesia in the genomics age. Lancet Respir Med. 8(2):202-16, 2020
Best S et al: Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia. Thorax. 74(2):203-5, 2019
Dettmer S et al: Computed tomography in adult patients with primary ciliary dyskinesia: typical imaging findings. PLoS One. 13(2):e0191457, 2018
Fitzgerald DA et al: When to suspect primary ciliary dyskinesia in children. Paediatr Respir Rev. 18:3-7, 2016
Harrison MJ et al: Congenital heart disease and primary ciliary dyskinesia. Paediatr Respir Rev. 18:25-32, 2016
Lucas JS et al: Diagnostic methods in primary ciliary dyskinesia. Paediatr Respir Rev. 18:8-17, 2016
Takeuchi K et al: Recent advances in primary ciliary dyskinesia. Auris Nasus Larynx. 43(3):229-36, 2016
Garrod AS et al: Airway ciliary dysfunction and sinopulmonary symptoms in patients with congenital heart disease. Ann Am Thorac Soc. 11(9):1426-32, 2014
Javidan-Nejad C et al: Bronchiectasis. Radiol Clin North Am. 47(2):289-306, 2009
Jain K et al: Primary ciliary dyskinesia in the paediatric population: range and severity of radiological findings in a cohort of patients receiving tertiary care. Clin Radiol. 62(10):986-93, 2007
Kennedy MP et al: High-resolution CT of patients with primary ciliary dyskinesia. AJR Am J Roentgenol. 188(5):1232-8, 2007
Kennedy MP et al: Primary ciliary dyskinesia and upper airway diseases. Curr Allergy Asthma Rep. 6(6):513-7, 2006
Berdon WE et al: Situs inversus, bronchiectasis, and sinusitis and its relation to immotile cilia: history of the diseases and their discoverers-Manes Kartagener and Bjorn Afzelius. Pediatr Radiol. 34(1):38-42, 2004
Biggart E et al: Primary ciliary dyskinesia syndrome associated with abnormal ciliary orientation in infants. Eur Respir J. 17(3):444-8, 2001
Cowan MJ et al: Disorders of ciliary motility. Am J Med Sci. 321(1):3-10, 2001
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