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

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

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

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

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

Treatment

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

See Also

• Cilia
• Bronchiectasis
• Situs inversus
• Kartagener syndrome
• Autosomal recessive

References

Primary Ciliary Dyskinesia Resources
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