Does Anyone Know OF or Have Dysmotile Cilia Syndrome?

Question

Am wondering about this syndrome. My boyfriend has it and is taking medications for it. I wanted to know if there is anyone else with knowledge of this who may be able to give me some advice on things that should be done, what to expect, etc???

Answer 1

Go online for "kartagener syndrome", many sites and info on it.

Answer 2

"Abnormal cells in respiratory tract lead to problems
Kartagener syndrome comes from an inherited disorder of special respiratory tract cells. This disorder, called primary ciliary dyskinesia, along with positioning of the internal organs on the opposite side from normal (called situs inversus), define Kartagener syndrome. It is estimated to occur in 1 per 32,000 live births, and affects both males and females.

Primary ciliary dyskinesia
The human respiratory tract includes the nose, sinuses, middle ear, eustachian tubes, throat, and the breathing tubes (trachea, bronchi, and bronchioles). The entire tract is lined with special cells that have hairlike projections on them, called cilia. The cilia sweep inhaled molecules of dust, smoke, etc., as well as bacteria, up and out of the respiratory tract.

In primary ciliary dyskinesia, the cilia are defective and don't work properly.
This means that mucus and bacteria in the lungs can't be expelled, and as a result, frequent lung infections (such as pneumonia) develop.

Symptoms
Most of the symptoms of Kartagener syndrome result from the inability of the respiratory cilia to function correctly, such as:

* Chronic sinus infection
* Frequent lung infections, such as pneumonia and bronchitis
* Bronchiectasis - lung damage from frequent infections
* Frequent ear infections

The symptom that distinguishes Kartagener syndrome from other similar syndromes is positioning of the internal organs on the side opposite from normal (called situs inversus). For example, the heart is on the right side of the chest instead of the left.

Diagnosis
Kartagener syndrome is recognized by the three main symptoms of chronic sinusitis, bronchiectasis, and situs inversus. Chest x-ray or computed tomography (CT) scan can detect lung changes characteristic of the syndrome. Taking a sample (biopsy) of the lining of the trachea can allow microscopic examination of the cells that line the respiratory tract, which can identify defective cilia.

Treatment
Medical care for a person with Kartagener syndrome focuses on prevention of respiratory infections, and prompt treatment of any that may occur. Antibiotics can relieve sinusitis, and inhaled medications and respiratory therapy can help if chronic lung disease develops. Small tubes may be placed through the eardrums to allow infections and fluid to drain out of the middle ear. Adults, especially men, may have difficulty with fertility, and may benefit from consulting a fertility specialist.

In many individuals, the number of respiratory infections begins to decrease by about age 20, and as a result many people with Kartagener syndrome have near normal adult lives.
http://rarediseases.about.com/cs/kartagenersynd/a/041804.htm