Primary Ciliary Dyskinesia

Introduction of Primary Ciliary Dyskinesia

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.

Causes of Primary ciliary dyskinesia (PCD)

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.

Symptoms of Primary Ciliary Dyskinesia

Thesymptoms of primary ciliarydyskinesiavary 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 andectopic pregnancyin
females.

Diagnoses of Primary ciliary dyskinesia

Primary ciliary dyskinesiais 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.

Treatments of Primary Ciliary Dyskinesia

Airway clearance therapyis 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.