Primary Ciliary Dyskinesia (PCD): A rare genetic disorder (1)

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Primary Ciliary Dyskinesia (PCD)
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Primary Ciliary Dyskinesia (PCD)

• 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.

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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.

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Symptoms

• 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.

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Diagnosis of Primary ciliary dyskinesia (PCD)

• 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.

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Treatments

• 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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