The dysfunction of the cilia begins during the embryologic phase of development. Since the cilia aid in the movement of growth factors resulting in the normal rotation of the internal organs during early embryological development, 50% of these individuals will develop situs inversus or dextrocardia.
The result is impaired ciliary function, reduced or absent mucous clearance, and susceptibility to chronic, recurrent respiratory infections, including sinusitis, bronchitis, pneumonia, and otitis media. The disease typically affects children ages 0 to 18, but the defect associated with it has a variable clinical impact on disease progression in adults as well. Many patients experience hearing loss, male infertility is common, and situs inversus (having organs on the opposite side from usual) occurs in approximately 50 percent of PCD patients. Clinical progression of the disease is variable with lung transplantation required in severe cases. For most patients, aggressive measures to enhance clearance of mucus, prevent respiratory infections, and treat bacterial superinfections are recommended. Although the true incidence of the disease is unknown, it is estimated to be 1 in 32,000 or higher.
This article contains some text from the public domain source "National Heart, Lung, and Blood Institute Rare Diseases Report FY 2001" available at http://www.nhlbi.nih.gov/resources/docs/raredisrpt01.htm Please adapt as necessary.
Kartagenersyndrome is also known as the Siewert syndrome, after another physician, Siewert, who described the syndrome in the early 1900s.
Kartagenersyndrome is caused by abnormalities of the cilia that line the respiratory tract and also form the flagella of sperm.
One theory behind the association of situs inversus with the underlying cause of Kartagenersyndrome is that the lack of ciliary movement in the developing embryo may result in incorrect organ rotation in approximately 50% of affected individuals.
Hereditary syndrome with a triad of: situs inversus (transposition) of the viscera, abnormal frontal sinuses producing sinusitis and bronchiectasis, and immobility of the cilia.
Kartagener was educated at the classical gymnasium in Przemysl, and later continued at a gymnasium for the natural sciences in Lemberg, where he graduated in 1915.
Kartagener obtained his doctorate in 1928 for a thesis on the thyroid gland and received further academic acknowledgement in 1935 for a dissertation on the aetiology of bronchiectasis.
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