A chronic lung disease which is a rare genetic disorder of the cilia of the lung cells, which are absent or abnormal and unable to move ; in the full syndrome, there is also an anomaly of the arrangement of internal organs.
Primary Ciliary Dyskinesia ( PCD ), Immotile Cilia Syndrome, Siewert's Syndrome, Afzelius' Syndrome
What is this?
Cilia are tiny, hair-like structures on the surface of some types of cell, which in the lung help to keep mucus moving up and out of the lung passages. Where they are abnormal or absent, especially when infections cause the lungs to produce more mucus, it is unable to get removed in the normal way and accumulates clogging fine tubes within the lungs leading to lung problems. It may be accompanied by Situs Inversus, in which major internal organs such as heart and lungs may be reversed as in a mirror-image of their normal positions (thus with the heart on the right side of the chest rather than the left, the liver on the left side of the abdomen, and so forth. ) Around 25 % of people with situs inversus have the abnormal cilia that lead to the full Kartagener's Syndrome. Normal cilia appear to play some role in the normal positioning of internal organs of people with PCD have situs inversus.
What causes this?
It is almost always a condition one is born with, and it is due to an autosomal recessive gene causing abnormalities in proteins vital to the motility of the cilia. The abnormal cilia may affect all structures within which they normally function, including not only the tubes within the lung, but the nose, sinuses, Eustachian Tube and middle ear.
What are its symptoms?
Difficulties in breathing, and chronic coughing and wheezing. Chronic rhinitis, recurrent or chronic sinusitis or bronchitis, reduced ability to smell, ear infections, possible infertility due to immobile or sperm of reduced motility, and to poor action of cilia in the Fallopian tubes in women. Bronchiectasis, in which bronchial tubes are blocked and chronically infected, weakening the tube structure, and allow infected mucus to build up. Hearing loss, related to chronic 'glue ear' may occur, and may not respond to the insertion of grommets. There may even be problems such as chronic headaches related to poor ciliary function within the brain.
How is it diagnosed?
In addition to a careful history and physical examination, investigations will include chest and sinus X-rays, and lung function studies. Biopsy of the relevant mucosal linings is helpful, and when adenoids are removed for clinical reasons, they need careful microscopic examination.
How is it treated?
Treatment aims to reduce symptoms and slow the progression of the disease, and includes attempts to prevent and treat the infections, and includes antibiotics and bronchodilators. Physiotherapy, preferably starting as early as possible in childhood, can help to keep the lungs clear and more free of chronic infections. In some severe lung cases, lung transplants have been done. Tympanostomy procedures to improve damage and reduce ear infections may be helpful.
What is the prognosis?
The severe infections can be especially difficult to manage in children; the condition often stabilises in the late teens, and the person may be able to lead a relatively normal adult life.
When to call your doctor .
When chronic chest, sinus and ear infections are troublesome.
How can it be prevented?
As a genetic disorder, it isn't practical to prevent, but early diagnosis and treatment can limit the accumulated damage and discomfort, and may allow a normal life-span.
Singers Donny Osmond and Enrique Iglesias are said to have situs inversus, but not Kartagener's Syndrome.
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