Kartagener's syndrome is a triad of situs inversus, chronic sinusitis and bronchiectasis and constitutes a subset of a more generalized condition known as immotile cilia syndrome. The incidence of immotile cilia syndrome is estimated to range from one in 20,000 to one in 68,000 persons. About 50 percent of patients with immotile cilia have situs inversus or Kartagener's syndrome.
Pathophysiology
The underlying cause of Kartagener's syndrome is a ciliary defect. [1] Cilia are motile processes that are present on the surfaces of many different types of cells. Cilia measure 0.2 to 0.5 [micrometer] X 2 to10 [micrometer] and are powered by an arrangement of nine microtubules surrounding two central tubules. Ciliated cells are found in the airways, the paranasal sinuses, the eustachian tubes, the ventricles of the brain, the oviducts and the vasa efferentia of the testes. Defective cilia are unable to adequately clear bacteria from the sinuses and the bronchial tree, thus predisposing patients with this condition to recurrent bacterial infections. [2] Sperm cells are powered by flagella that also contain microtubules, [2] and the immotile sperm in patients with Kartagener's syndrome result in infertility.
Clinical Features
Symptoms associated with Kartagener's syndrome are chronic rhinitis, recurrent or chronic sinusitis, recurrent or chronic bronchitis, bronchiectasis, olfactory impairment and infertility. The frequency of bronchiectasis in patients with immotile cilia is approximately 30 percent. Kartagener's syndrome is thought to underlie only about 1.5 percent of cases of bronchiectasis. Other congenital anomalies that have been associated with the syndrome include transposition of the great vessels and pyloric stenosis. The long-term prognosis of patients with Kartagener's syndrome is good, with many patients living to an advanced age.
Radiologic Findings
Plain film of the chest may demonstrate findings consistent with bronchiectasis, such as accentuation of the bronchovascular markings, especially at the lung bases (Figure 1). The bronchial walls are increased in size, with loss of definition of the markings. In advanced cases, the bronchial tree may become cystically dilated. Situs inversus, with the cardiac apex and gastric fundus on the right side, may also be noted. [3,4]
Computed tomographic (CT) scan of the chest demonstrates a dilated bronchial tree with thickening of the bronchial walls (Figure 2). Radiographs of the sinuses may show pansinusitis, with opacification of the maxillary, ethmoid and frontal sinuses (Figure 3). The right frontal sinus may be hypoplastic.
Treatment
Treatment of Kartagener's syndrome is much the same as that for bronchiectasis from other etiologies. The goal of therapy is to reduce symptoms and slow disease progression. Prophylactic measures such as appropriate immunizations, particularly influenza vaccine and pneumococcal vaccine, and vigorous pulmonary toilet are the mainstays of therapy. Acute exacerbations of bronchitis must be treated with antiobiotics. The choice of drug should be based on findings from gram-stained sputum samples, when possible. Patients who develop recurrent pneumonia or hemoptysis may benefit from segmental lung resection or lobectomy.
REFERENCES
[1] Eliasson R, Mossberg B, Cammer 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; 297:1-6.
[2] Cotran RS, Ku,ar V, Robbins SL. Pathologic basis of disease. Philadelphia: Saunders, 1989:777.
[3] Fishman AP, ed. Pulmonary diseases and disorders. 2d ed. New York: McGraw-Hill, 1988:1165-7.
[4] Fraser RG, Pare JA. Synopsis of diseases of the chest. Philadelphia: Saunders, 1983:561.
SALVATORE A. DELUCA, M.D., coordinator of this series, is assistant professor of radiology at Harvard Medical School and associate radiologist at Massachusetts General Hospital, Boston.
COPYRIGHT 1991 American Academy of Family Physicians
COPYRIGHT 2004 Gale Group
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Kallmann syndrome