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Primary Ciliary Dyskinesia (PCD),
also known as Immotile Cilia Syndrome, is a rare
genetic birth defect that involves the blocking
of respiratory passages. Patients with PCD have
abnormal or absent ciliary motion. Cilia are
tiny hair-like structures that move mucus out of
the respiratory passages. During infections more
mucus is produced and because the abnormal cilia
can't move or move ineffectively, mucus becomes
stuck and blocks the respiratory tract, causing
various complications.
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PCD is commonly characterized by chronic
sinusitis and bronchiectasis. Bronchiectasis occurs
when the bronchial tubes are blocked and
chronically infected, causing the tubes to
weaken and stretch out. The widened tubes
allow more mucus and bacteria to accumulate,
leading to infection and possibly pneumonia.
Trapped mucus can also cause difficulty
breathing, wheezing, and coughing to clear
the mucus.
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It is estimated that the prevalence of PCD
is approximately 1 in 16,000 live births.
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Kartagener's Syndrome is a variant of PCD
that results from a combination of chronic
sinusitis, bronchiectasis and situs inversus,
where some of the patient's organs are
reversed. For example, the heart is on the
right side instead of the left. The reversed
organs do not usually pose a problem for the
patient. About 50 percent of patients with
PCD have Kartagener's Syndrome.
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Because of their susceptibility to pneumonia
and infections, people with PCD should get
immunized, avoid tobacco smoke, and exercise
regularly to prevent sickness.
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Cilia are also found in the brain and
reproductive organs so patients with PCD may
have chronic headaches and on rare occasion,
hydrocephalus (spinal fluid buildup in the
brain). Males with PCD are usually infertile
because sperm is propelled by flagella
similar in structure to cilia. There is
debate on whether PCD affects female
fertility.
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It is difficult to diagnose PCD because of
its similarities to cystic fibrosis and
other more common diseases. The only
definitive way of detecting PCD is with a
biopsy. Research for genetic testing of PCD
is in progress.
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There is currently no cure for PCD, but
patients are generally treated for
respiratory tract infections with
antibiotics and close observation to prevent
bronchiecstasis. A doctor or therapist can
also recommend various techniques to clear
mucus. If mild or moderate, PCD patients
receiving proper treatment and monitoring
can expect to live a full life.
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