What Is Primary Ciliary Dyskinesia?

Primary Ciliary Dyskinesia also known as Immotile Cilia Syndrome is a rare genetic disorder of the lungs in which tiny hair like structures called cilia whose function is to move out mucus from the airways stops functioning resulting in accumulation of mucous leading to blockage and variety of infections. At present, there is no clear cut cure for Primary Ciliary Dyskinesia but with regular treatment affected people lead normal lives.

Primary Ciliary Dyskinesia

How Does Primary Ciliary Dyskinesia Affect The Body?

  • Primary Ciliary Dyskinesia basically affects the respiratory system of the body along with other body systems which are dependent on cilia like the middle ear and the reproductive system.
  • Majority of the people with Primary Ciliary Dyskinesia have a medical condition called Kartagener's Syndrome.
  • When the cilia stops functioning then there is inflammation of the lungs due to fluid buildup and the stage becomes set for bacteria to grow.
  • People with Primary Ciliary Dyskinesia suffer from frequent infections of lungs, ears, throat, and sinuses.
  • The gradual accumulation of mucus also causes disease conditions like bronchiectasis or pneumonia.

Is Primary Ciliary Dyskinesia A Serious Disease Condition?

Primary Ciliary Dyskinesia is not a life threatening condition by itself but can definitely cause serious complications since this condition worsens with time and there is no permanent cure for this disease, although people can lead a normal life with close monitoring and aggressive therapy treatments.

What Are The Symptoms Of Primary Ciliary Dyskinesia?

Some of the Symptoms of Primary Ciliary Dyskinesia are:

  • Respiratory Distress in a newborn baby
  • Chronic cough
  • Frequent lung infections like pneumonia or bronchitis
  • Excessive mucus production
  • Difficulty clearing mucus
  • Middle ear infections
  • Hearing impairment
  • Frequent sinus infections
  • Recurring coughing and sneezing
  • Ineffective response to usual antibiotics.

How Is Primary Ciliary Dyskinesia Diagnosed?

Primary Ciliary Dyskinesia is quite a difficult disease to diagnose as its symptoms may resemble that of other lung infections like asthma or cystic fibrosis.

The treating physician takes a detailed history from where he may get information about any genetic predisposition to Primary Ciliary Dyskinesia. After this, a lung biopsy may be done to confirm the presence of Primary Ciliary Dyskinesia

What Are Treatments For Primary Ciliary Dyskinesia?

At present, there is no definite cure for Primary Ciliary Dyskinesia, although if it is diagnosed relatively early then with aggressive treatment and close monitoring they can lead a normal life. The main aim of treatment is to prevent the progression of the disease and maintain the lung function. The treatment also aims at preventing blockage of airways with mucous. This can be done with routine washing and suctioning of the sinus cavities and the ear canals. The affected individual is given antibiotics on a regular basis so as to kill if any bacteria is present in the retained mucous. Some of the other medications that may be prescribed for treatment of Primary Ciliary Dyskinesia are:

  • Steroids
  • Bronchodilators
  • Mucolytics.

Written, Edited or Reviewed By:

, MD, FFARCSI

Last Modified On: November 24, 2015

Pain Assist Inc.

Pramod Kerkar
  Note: Information provided is not a substitute for physician, hospital or any form of medical care. Examination and Investigation is necessary for correct diagnosis.

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