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.

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.

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.

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.

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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