Kartagener syndrome

Description

Kartagener syndrome (KS) is an inherited disorder (autosomal recessive ) characterised by the clinical triad of chronic sinusitis; bronchiectasis; and situs inversus. It is is a subset of primary ciliary dyskinesia with abnormal ciliary structure/function associated with impaired ciliary motility

History of Kartagener syndrome

1904 – AK Siewert from Kiev (Ukraine) described a patient who ‘since birth had the unusual combination of symptoms of bronchiectasis and situs inversus totalis‘ [1904;41:139-141]

1933 – Kartagener described the triad of situs inversus, chronic rhinosinusitis, and chronic bronchitis with bronchiectasis in four patients [1933;83(4):489–501]

1962 – Kartagener then published additional cases with the triad he observed for a total of 334 cases [1962; 79: 193-207]

1976 – Afzelius studied four male subjects with immotile sperm, and observed that three of the four had chronic bronchitis, sinusitis and no mucociliary transport (measured by tracheobronchial clearance). The cilia on the cells of these patients were observed to lack dyenin arms on electron microscopy

1977 – Eliasson et al. found that patients with this syndrome had absent mucociliary transport in the nose and bronchi; the cilia lacked dynein arms; and male patients were infertile with immotile spermatozoa, lacking dynein arms. They proposed the disease be renamed ‘immotile-cilia syndrome‘.

1980 – Independent groups of researchers demonstrated that in most patients with Kartagener syndrome, ciliated cells from both the nose and bronchido demonstrate some degree of ciliary motility

Associated Persons

• Manes Kartagener (1897 – 1975)

Alternative names

• Siewert (Zivert) syndrome
• Siewert-Kartagener syndrome
• Kartagener-Afzelius syndrome
• Primary ciliary dyskinesia (PCD)
• Immotile cilia syndrome [Eliasson, 1977]

References

Original articles

• Siewert A. Über einen Fall von Bronchiectasie bei einem Patienten mit situs inversus viscerum. Berliner Klinische Wochenschrift 1904;41:139-141
• Kartagener M. Zur Pathogenese der Bronchiektasien. I. Mitteilung: Bronchiektasien bei Situs viscerum inversus. Beiträge zur Klinik der Tuberkulose. 1933; 83(4): 489–501.
• Kartagener M, Stucki P. Bronchiectasis with situs inversus. Arch Pediatr. 1962; 79: 193-207.
• Afzelius BA. A human syndrome caused by immotile cilia. Science. 1976 Jul 23; 193(4250): 317-9

Modern review

• Eliasson R, Mossberg B, Camner P, Afzelius BA. The immotile-cilia syndrome. A congenital ciliary abnormality as an etiologic factor in chronic airway infections and male sterility. N Engl J Med. 1977;297(1):1-6
• Rossman C, Forrest J, Newhouse M. Motile cilia in ‘immotile cilia’ syndrome. Lancet. 1980 Jun 21;1(8182):1360.
• Sleigh MA. Primary ciliary dyskinesia. Lancet. 1981;2(8244):476
• Pedersen M, Mygind N. Ciliary motility in the immotile cilia syndrome. First results of microphoto-oscillographic studies Br J Dis Chest 1980, 74: 239-44.
• Rossman CM, Forrest JB, Lee RMKW, Newhouse MT. The dyskinetic cilia syndrome. Ciliary motility in immotile cilia syndrome. Chest 1980; 78: 580-82.
• Veerman AJP, Van der Baan S, Weltevreden EF, Leene W, Feenstra L. Cilia; immotile, dyskinetic, dysfunctional Lancet. 1980 Aug 2;2(8188):266.
• Pennekamp P, Menchen T, Dworniczak B, Hamada H. Situs inversus and ciliary abnormalities: 20 years later, what is the connection? Cilia. 2015; 4: 1-12.