Kartagener syndrome is a subset of primary ciliary dyskinesia, an autosomal recessive condition characterized by abnormal ciliary structure and/or function leading impaired mucociliary clearance.
The prevalence of primary ciliary dyskinesia is approximately 1/12000-1/60000.5 Approximately 50% of patient with primary ciliary dyskinesia have Kartagener syndrome/situs abnormality. No gender predilection is recognized.
Kartagener syndrome is characterised by the clinical triad of 1:
Other features include :
- telecanthus - widened interpupillary distance by a nasal polyp
- Infertility in male
- subfertility in female.
Depend on severity of underlying bronchiectasis, findings include bronchial wall thickening, bronchial dilatation with loss of normal peripheral tapering:
- predilection to involve the right middle, lingular segment of the left upper lobe and the lower lobes
- mucus plugs maybe visible, finger in glove sign
- situs abnormality i.e situs inversus
CT tends to demonstrate bronchiectasis which may be variable in severity. However, changes are much milder than in cystic fibrosis4. The morphology of bronchiectasis can be tubular/cylindrical or saccular/cystic.
In addition, CT demonstrates:
- mucocele, impacted mucus in bronchioles.
- tree-in-bud pattern or centrilobular nodules maybe encountered with mucus impaction and endobronchial spread of infection
- mosaic perfusion/ air trapping as ancillary findings
- eventual scarring may result from recurrent infection, requiring pulmonary resection surgery
Situs abnormality with associated lower lobe bronchiectasis should prompt the diagnosis of Kartagener syndrome. However, there is a differential:
- hereditary impaired mucociliary clearance
- impaired immunity
- hypersensitivity and immune reaction
Manes Kartagener, a Zurich pulmonologist who first reported the clinical triad of sinusitis, bronchiectasis, and situs inversus in 19333. It was not until 1970s, Bjorn Afzelius, an ultrastructuralist, noted the associated infertility in male. Afzelius noted the diversity of structural defects which can affect the dynein arms and/or radial spokes of the sperm tail.3 Further work was undertaken by Jennifer Sturgess, an ultrastructuralist from Toronto who identified the radial spoke defect as a common feature of Kartageners syndrome and immotile cilia syndrome. She also contributed to research in cystic fibrosis which shares clinical similarity to primary ciliary dyskinesia.
- 1. Lee KJ. Essential otolaryngology, head & neck surgery. McGraw-Hill Professional. (2008) ISBN:0071482709. Read it at Google Books - Find it at Amazon
- 2. Dähnert W. Radiology Review Manual. Lippincott Williams & Wilkins. (2007) ISBN:0781766206. Read it at Google Books - Find it at Amazon
- 3. Kartagener M (1933). "Zur Pathogenese der Bronchiektasien: Bronchiektasien bei Situs viscerum inversus". Beiträge zur Klinik der Tuberkulose. 83: 489–501.
- 4. Berdon WE, Willi U. 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. 2004;34 (1): 38-42. doi:10.1007/s00247-003-1072-9 - Pubmed citation
- 5. Noone PG, Leigh MW, Sannuti A et-al. Primary ciliary dyskinesia: diagnostic and phenotypic features. Am. J. Respir. Crit. Care Med. 2004;169 (4): 459-67. doi:10.1164/rccm.200303-365OC - Pubmed citation
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