Primary Ciliary Dyskinesia

Primary Ciliary Dyskinesia (PCD), also known as Immotile Ciliary Syndrome or Kartagener Syndrome, is a rare, ciliopathic, autosomal recessive genetic disorder that causes defects in the action of cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear), fallopian tube, and flagellum of sperm cells.

Symptoms and Signs[edit | edit source]

The symptoms and signs of PCD are due to defective cilia and flagella. They include:

Chronic sinusitis
Bronchiectasis
Situs inversus (in about 50% of PCD cases, also known as Kartagener syndrome)
Male infertility
Female subfertility
Hearing impairment

Causes[edit | edit source]

PCD is caused by a mutation in the genes responsible for making the proteins needed for cilia to function. It is an autosomal recessive disorder, which means that a person must inherit two copies of the defective gene, one from each parent, to develop the disease.

Diagnosis[edit | edit source]

Diagnosis of PCD can be challenging and may involve several tests, including:

Nasal nitric oxide testing
High-speed video microscopy analysis
Genetic testing

Treatment[edit | edit source]

There is currently no cure for PCD. Treatment is supportive and aims to slow the progression of the disease, manage symptoms, and prevent complications. This may include:

Physiotherapy to clear mucus from the lungs
Regular exercise
Antibiotics to treat respiratory infections
Surgery for severe or persistent ear or sinus infections or for bronchiectasis

References[edit | edit source]

Primary Ciliary Dyskinesia Resources
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