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Physician Assistant Exam: Cystic Fibrosis

Cystic fibrosis is an abnormality of exocrine gland function. It’s important for the Physician Assistant Exam (PANCE) that you understand that this is a disorder of the cystic fibrosis transregulator gene and it messes up the normal flow of the chloride channel. Because the movement of chloride also affects the cellular movement of water, the person may have a lot of thick mucus production.

Here are some key points concerning cystic fibrosis:

  • Cystic fibrosis is a genetic condition inherited in an autosomal recessive manner.

  • The major body organs affected by cystic fibrosis are the lungs, pancreas, and testes:

    • Lungs: Someone with cystic fibrosis can present with productive cough with excessive sputum production. Long-standing cystic fibrosis can be a cause of bronchiectasis.

    • Pancreas: Because cystic fibrosis affects the pancreatic exocrine function, the affected person can present with malabsorption symptoms. He or she can also have pancreatitis and/or pancreatic insufficiency from long-standing cystic fibrosis.

    • Testes: A man with cystic fibrosis can present with infertility.

  • A person with cystic fibrosis can have cyanosis and/or clubbing.

  • A diagnosis of cystic fibrosis is determined by an elevated sweat chloride test. While genetic testing may be done to evaluate for abnormalities in the CFTR gene, an abnormal sweat chloride test alone confirms the diagnosis.

  • Treatment includes antibiotics and bronchodilators. Nebulized antibiotic therapy (for example, inhaled tobramycin) has been used. Because of pancreatic insufficiency, the patient may need supplemental enzyme therapy. Extensive chest physiotherapy may also be required.

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