Primary ciliary dyskinesia

Primary ciliary dyskinesia (PCD)

Description, Causes and Risk Factors:

Primary ciliary dyskinesia (PCD) is a rare genetically inherited condition where the microscopic hair-like structures within the body, known as cilia do not function normally. Cilia vibrate within the airways and other organs in the body such as the middle ear. Their function within the airways is to remove bacteria, dust and other particles. In PCD the cilia either do not function at all or their movement is disordered and therefore ineffective.

PCD is a recessively inherited disorder. Mutations of genes DNAH5 (28% of patients), DNAI1 (2-10% of patients), TXNDC3, DNAH11, and DNAI2 (more rarely found), encoding components of the outer dynein arm (ODA) that generate cilia and flagella movement, can cause PCD. Mutations in the DNAI1 or DNAH5 genes account for approximately one third of PCD cases. Other genes have been recently implicated in PCD: C14orf104, OFD1, RSPH9, and RSPH4A. A rare form of PCD associated with Retinitis pigmentosa is caused by a mutation in the RPGR gene. Families in which transmission of PCD is autosomal dominant have been described, but the gene involved has not been identified.

The symptoms and severity of PCD vary from person-to-person. If you or your child has the disease, you may have serious sinus, ear, and/or lung infections. If the disease is mild, it may not show up until the teen or adult years. The symptoms and severity of PCD also vary over time. Sometimes you may have few symptoms. Other times, your symptoms may become more severe.

Some people who have PCD have a condition called situs inversus. This is a condition in which the internal organs (for example, the heart, stomach, spleen, liver, and gallbladder) are in opposite positions from where they normally are.

A correct and early diagnosis of PCD is very important. It will allow you or your child to get the proper treatment to keep your airways and lungs as healthy as possible. An early diagnosis and proper treatment also can prevent or delay lung damage.


Symptoms typically include:

    Respiratory distress as a newborn.

  • Chronic cough.

  • Pneumonia, bronchitis and other recurring infections.

  • Excess mucus.

  • Difficulty clearing mucus.

  • Middle ear infections.

  • Hearing loss.

  • Severe sinus infections.

  • Recurring cold symptoms, such as coughing and sneezing.

  • Lack of response to common antibiotics like penicillin when you have infections.


If the doctor thinks that you or your child might have PCD, he or she may recommend tests to confirm the diagnosis.

Genetic Testing: Researchers have found many gene defects associated with PCD. Genetic testing can show whether you have faulty genes linked to the disease.Genetic testing is done using a blood sample. The sample is taken from a vein in your body using a needle. The blood sample is checked at a Special genetic testing laboratory.

Electron Microscopy: Doctors can use a special microscope, called an Electron microscope, to look at samples of your airway cilia. This test can show whether your cilia are faulty.An Ear, nose, & throat (ENT) specialist or a Pulmonologist will take samples of your cilia. He or she will brush the inside of your nose or remove some cells from your airways.

Other Tests: Sometimes doctors use one or more of the following tests to help diagnose PCD. These tests are less complex than genetic testing and electron microscopy, and they can be done in a doctor's office.However, these tests don't give a final diagnosis. Based on the test results, doctors may recommend the more complex tests.

Radio-labeled particles. For this test, you breathe in tiny particles that have a small amount of radiation attached to them. When you breathe out, your doctor will test how well your cilia can move the particles.If you breathe out a smaller than normal number of particles, your cilia may not be working well. This could be a sign of PCD.


There is currently no cure for PCD, but when PCD is diagnosed early enough, patients receiving proper treatment and monitoring can expect to live a full life. Treatment focuses on preventing the progression of PCD and maintaining current lung function. Doctors must monitor patients with PCD closely to prevent bronchiectasis. People with PCD must keep their airways clear. Therapists use daily airway clearance therapy for the lungs; routine washing and suctioning of sinus cavities and ear canals keep upper airways clear. People with CPD may be prescribed antibiotics regularly because bacteria live and thrive in retained mucus. Other medications prescribed may include steroids, bronchodilators, and mucolytics (mucus thinners).

NOTE: The above information is educational purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.

DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.


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