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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
- Primary ciliary dyskinesia (PCD)
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
- Knowles MR et al: Primary ciliary dyskinesia. Clin Chest Med. 37(3):449-61, 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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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
- Primary ciliary dyskinesia (PCD)
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
- Knowles MR et al: Primary ciliary dyskinesia. Clin Chest Med. 37(3):449-61, 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
