KARTAGENER SYNDROME

Kartagener Syndrome

Kartagener Syndrome

Description

Kartagener syndrome is a combined malformation characterized by the formation of bronchiectasis in combination with partial or full reverse position of internal organs and polyps of the nasal mucosa. This disease is part of the so-called ciliary dyskinesia syndromes are a group of entities in which there is an alteration of structure or function of cilia from any cause. These changes affect all ciliated epithelia of the body: the respiratory epithelium of the sinuses (cavities on the sides of the nose), the Eustachian tube, and sperm, resulting in poor clearance of mucus and retention same (Noone and Leigh, 2004).

Typically the disease is characterized by:

1."Situs inversus in whole or in part" (the thoracic organs and / or abdominal located on the opposite side to normal). It is a rare anatomical abnormality that often is associated with (multiple complex) malformations. No conclusive data, but it seems that the conditions that underlie the malposition of the bodies under the axle left - right in the embryo are associated with ciliary abnormalities.

2.Bronchiectasis, dilatation of the bronchi, which often result from bronchial infections of repetition, the heat acts as a mucociliary defense mechanism against infection, when this defense system is altered bronchial infections occur repetition and bronchiectasis.

3.Sinusitis, or inflammation of one or more sinuses present infertility due to poor mobility or immobility of the sperm, rhinitis (inflammation of the nasal mucosa), chronic olfactory disorders of varying degrees (you can even show complete loss of smell), to heart disease, otitis media (inflammation of the middle ear), deafness, absence of spleen, kidney malformations and the vessels of the retina, cornea disorders, headache of sinus origin, transposition of organs and is sometimes associated with other diseases such as rheumatoid arthritis. (Stannard, Chilvers, Rutman, Williams and O'Callaghan, 2010)

Statistics

Kartagener syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Kartagener syndrome, or a subtype of Kartagener syndrome, affects less than 200,000 people in the US population. Ophanet, who are a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Kartagener syndrome as a "rare disease" (Shoemark, Ozerovitch and Wilson, 2007).

Affect on various body systems

The main consequence of ciliary function is impaired susceptibility to infections, chronic recurrent respiratory, including sinusitis, bronchitis, pneumonia and otitis media. The progressive damage to the respiratory system ...