Primary ciliary dyskinesia (pcd) is an autosomal recessive genetic condition in which the microscopic cells in the respiratory system called cilia do not function normally.

2. Primary ciliary dyskinesia (PCD) is an autosomal
recessive genetic condition in which the microscopic
cells in the respiratory system called cilia do not
function normally. Ciliary dysfunction prevents the
clearance of mucous from the lungs, paranasal
sinuses and ears. Bacteria and irritants in the mucous
lead to frequent respiratory infections. Kartagener
syndrome is a type of Primary ciliary dyskinesia
associated with a mirror-image orientation of the heart
and other internal organs.

3. Primary ciliary dyskinesia usually follows autosomal
recessive genetic inheritance. Recessive genetic
disorders occur when an individual inherits the same
abnormal gene for the same trait from each parent. If
an individual receives one normal gene and one gene
for the disease, the person will be a carrier for the
disease, but usually will not show symptoms.
All individuals carry multiple abnormal genes for
various traits. Parents who are close relatives have a
higher chance than unrelated parents to both carry the
same abnormal gene, which increases the risk to have
children with a recessive genetic disorder.

4. The symptoms of primary ciliarydyskinesia vary
greatly in affected individuals. Symptoms often begin
shortly after birth and can include coughing, gagging,
choking and lung collapse. Affected individuals often
experience chronic sinus, middle ear and lung
infections as well as chronic coughing, excess mucus
and hearing loss. The recurring respiratory infections
can lead to an irreversible scarring and obstruction in
the bronchi and severe lung damage.
Cilia are also present in the ventricles of the brain and
in the reproductive system so ciliary dysfunction can
also affect other body systems. Affected men are often
infertile because movement of sperm is abnormal.
Primary ciliary dyskinesia may also be associated with
infertility and ectopic pregnancy in females.

5. Primary ciliary dyskinesia is diagnosed definitively
through examination of lung or sinus tissue obtained
from a biopsy. Specific structural defects that are
present in these tissues can be detected under an
electron microscope. Early diagnosis is important in
order to provide prophylactic treatment to prevent or
decrease damage to the respiratory system from
recurrent infections. Screening for levels of nasal
nitric oxide is helpful to identify individuals who may
have Primary ciliary dyskinesia and should proceed
with a biopsy.

6. Airway clearance therapy is used to keep the lung
tissue healthy for as long as possible. This therapy
may include routine washing and suctioning of the
sinus cavities and ear canals. Antibiotics,
bronchodilators, steroids and mucus thinners are also
used to treat Primary ciliary dyskinesia. Routine
hearing evaluation is important for young children and
speech therapy and hearing aids may appropriate for
children with hearing loss and speech problems. Lung
transplantation is an option for severe, advanced lung
disease. Surgery may be indicated if heart defects are
present.

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