Primary ciliary dyskinesia

Primary ciliary dyskinesia is a rare genetic disease affecting cilia. When cilia are not appropriately functional, mucus and bacteria accumulate causing infections and clogging of the lungs, ears, and sinuses. Patients with primary ciliary dyskinesia might also have their internal organs on the opposite side of normal. This disease usually presents since birth with recurrent lung and sinus infections but it has varying degrees of severity. It can also affect the fluid around the brain and cause hydrocephalus. In adulthood, it can affect fertility by making sperms and eggs unable to move properly, which affects fertilization and causes ectopic pregnancies.

  • Symptoms
  • Cough with mucus or without mucus

    • Recurrent, An irritating cough that doesn't go away

    • Production of clear-white mucus, Production of yellowish-gray mucus

    • Lasting 4 weeks or more

    common

    Inability to conceive a child

    common

    Recurrent respiratory tract infections

    common

    Runny nose

    • Non-seasonal

    • Lasting 4 weeks or more

    or Blocked nose

    • Recurrent

    common

    Recurrent episodes of otitis media

    common

    Whistling breathing

    • Recurrent

    Reduced ability or completely losing sense of smell

    Difficulty hearing

    • Both ears

    • In one ear

    • Chronic

    Enlargement of the fingertips and downward sloping of nails

    Bone deformity

    Twisted spine

  • Risk factors
  • Treatment
  • Treatment of primary ciliary dyskinesia is focused on keeping the lungs as healthy and clean as possible. This is usually called airway clearance therapy, which includes regular washing of sinuses, using mucus thinners, antibiotics...etc. If the ears are severely affected, the patient might need an ear tube or a hearing aid. In most severe cases, a lung transplant might be considered.
  • Recommended specialist
  • If you have Primary ciliary dyskinesia, then a visit to a pulmonologist is highly recommended.

    Contact a

    Pulmonologist

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