Primary Ciliary Dyskinesia


Primary ciliary dyskinesia or PCD is a kind of issue that is understood by the infections in the chronic respiratory tract, misplacing of the organs, and infertility or incapable of being able to bear a child. Signs and symptoms of the disease can be detected through the abnormalities in the cilia and flagella. It follows the autosomal recessive inheritance pattern. Approximately one in every ten thousand and thirty thousand are affected.

What is Primary Ciliary Dyskinesia?

Primary ciliary dyskinesia is a sort of disease that is genetic and has chronic infections in the respiratory tract or misplacing of the organs or infertility. The cilia of the respiratory tract are highly affected negatively by the disease. It has also been shown to impact the flagella of the male sperms.

The disease was first coined by Rossman and coworkers in the year of nineteen eighties after noticing that some of the patients had their cilia unresponsive and uncoordinated towards movement. At least one in every ten to thirty thousand people are affected by the disease.

Role of Cilia in a Cell

Cilia are minute microscopic projections found on the surface of the cells. The projections are found in the internal surface of the respiratory tract, reproductive system, and other organs.

The movements of the cilia in the cell help in the movement of the mucus through the throat. This kind of movement helps in the removal of harmful substances from the lungs. Many times it has been found that newborn babies suffer from PCD. This is because of the lack of movement of the cilia that stops the removal of the microorganisms from the lungs of the babies.

Figure 1: 3-D Image of Human Cilia

Generally, people with PCD have been found to have congestion in the lungs, chronic cough, and others. Persisting of the disease for a lengthy period of time can lead to serious hampering of the bronchi of the lungs that can even lead to the cause of death.

PCD is also known to cause misplacing of organs where the organs are shown to mirror their right positions.

PCD diagnosis and testing

In infants, the disease can be diagnosed through problems of breathing, and other kinds of diseases of the lungs. Generally, a specialist detects the problem through chronic sinus or infection of the lungs.

Diagnosis of the disease is challenging in itself. The diagnosis cannot be based on a single test but on many tests, and observations made by the specialists. Some of the basic steps followed by the experts include clinical past history, biopsy of the cilia, and nasal testing of the nitric oxide and others.

PCD signs come at a very early age. The principal test for PCD is the biopsy displaying the internal condition of cilia through transmission electron microscopy. The process is done by scraping the ciliary cells from the surface and internals of the nose. When things are not clear in a biopsy, a nasal nitric oxide test is done.

Symptoms of Primary Ciliary Dyskinesia

The symptoms of Primary Ciliary Dyskinesia vary in different individuals and time is an important factor. The severity differs from person to person. Typically, the initial symptoms occur at the early stage of life. Respiratory distress occurs in newborn babies affected with PCD and they need oxygen for several days. Infections in the ear could occur, as they become older. They may face symptoms like cough and runny nose that are very common in other illnesses during childhood. Therefore, correct diagnosis may take a long time.

Figure 2: Symptoms of PCD

National Heart Lung and Blood Institute (NIH), Public domain, via Wikimedia Commons

Symptoms that are very common in PCD are −

  • The problem in respiration in newborn babies

  • An excessive amount of mucus

  • Chronic wheezing

  • Obstruction in cleaning mucus

  • Repetitive infection in the middle ear

  • Repetitive cold symptoms

  • Chronic nasal congestion

About 50% of PCD patients have Kartagener's syndrome., a disease with multiple disorders. The disorders are - situs inversus, bronchiectasis and chronic sinusitis.

Primary Ciliary Dyskinesia - Treatments

At present, Primary Ciliary Dyskinesia is not completely curable. The ultimate treatment goal for PCD patients is to limit disease progression. Doctors are giving their best efforts to control airway health and cure lung diseases and upper airway conditions. Some of the most known treatments are −

  • Controlling and treating ear infections, sinus, and lungs

  • Removing the trapped mucus from the airways

  • Prescribing antibiotics, bronchodilators, and anti-inflammatory medicines for treatments of lung infections, to clear the mucus blockage in airways, and to reduce bronchial tube swelling

  • Aerobic exercise and other PCT (physical therapy of chest) to get rid of breathing issues and various lung disorders

  • Prescribing oral and other medicines to PCD patients for making the bronchi mucusfree as a necessary step for PCD treatment


PCD or Primary Ciliary Dyskinesia is caused by genetic disorders. The disease happens due to the irregular functionality of flagella and cilia. Many diseases are caused by PCD and chronic respiratory infection is one of them. It also causes wrong placement of body organs and infertility. PCD is not completely curable but doctors have prescribed some treatment procedures and medicines that can reduce to spread of the disease.


Q1. How Primary Ciliary Dyskinesia does harms?

Ans. Primary ciliary dyskinesia occurs due to genetic mutations. PCD can affect tiny hairline cilia present in the lungs, nose and ears. PCD impairs the ability of these organs to eliminate pollutants and germs that results in infection and mucus build up.

Q2. What is the main symptoms of PCD?

Ans. Patients having primary ciliary dyskinesia face many symptoms. Some of them are common in other diseases. The most common symptoms are breath shortness, wheezing, infection in the nose and ear, repetitive chest colds, wet cough during the infancy stage, disorders in the respiratory tract and lungs, and sinuses.

Q3. What part of the body is mainly affected by primary ciliary dyskinesia?

Ans. Primary ciliary dyskinesia is caused by the structural and functional defect of the cilia. The disease mainly affects the body’s respiratory system. Lung and airways are mainly affected by PCD.