Genetic Causes of Sinusitis

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Although it's likely that many genetic links to sinusitis will be found in the future, for now these are the two we know the most about.

Cystic Fibrosis (CF)

This inherited disorder, which is usually diagnosed in childhood, is caused by a genetic defect (called a DNA mutation) that leads ,171

to abnormal secretions in various organs of the body, including the lungs, pancreas, liver, and reproductive tract. In the respiratory system, this dysfunction produces very thick mucus, which can block the lungs and sinuses, triggering pneumonia and sinusitis. More than 90 percent of patients with CF have chronic sinusitis; large nasal polyps are also common. Many need sinus surgery to clear the polyps, which often regrow, requiring repeated surgery.

Although in the past most people with CF did not survive into adulthood, treatments have become so effective in recent years that many CF patients are now living well into middle age. In addition, some children and adults are now being diagnosed with a milder form of CF that is caused by a partial defect in the DNA gene; it's less likely to affect longevity, but secretions can still be thick, causing frequent bouts of sinusitis.

Primary Ciliary Dyskinesia (PCD)

As you may recall from Chapter 2, the lungs, nose, and sinuses are lined with microscopic hairs called cilia, which beat rhythmically, clearing mucus and debris from air passages. PCD, also known as immotile-cilia syndrome or Kartagener's syndrome, is a genetic disorder that results in a structural defect in the cilia, leaving them unable to beat properly. Mucus builds up within the sinuses, leading to chronic infections and the formation of nasal polyps.

As with CF, this genetic defect can cause problems throughout the body. Its effect on the lungs means people with PCD are prone to chronic cough and recurrent bouts of pneumonia. Medications can provide some improvement. Sinus surgery to remove the polyps and clear the sinuses is effective but usually needs to be repeated.

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