What is Cystic Fibrosis?

Young Man With Oxygen Mask

Cystic fibrosis is a genetic disorder that affects the way a patient’s body produces mucus and sweat. A defective gene causes excessive mucus to thickly coat vital organs, primarily the lungs and/or pancreas. This is a progressive condition, meaning that it gets more severe over time. This thick coating of mucus may lead to severe complications. Excessive mucus in the lungs obstructs the airways while enabling bacteria to reproduce, which may lead to lung infections, permanent damage to the lungs, and ultimately respiratory failure. Cystic fibrosis affecting the pancreas may prevent the production and release of digestive enzymes needed to break down food and absorb essential nutrients.

A patient with cystic fibrosis may experience a variety of symptoms, some of which may include:

  • Notably salty tasting skin

  • Chronic, persistent coughing which may produce phlegm

  • Growths inside the nose

  • Frequent occurrences of lung infections, such as bronchitis or pneumonia

  • Persistent wheezing or shortness of breath

  • Low body weight or delayed growth

  • Low bone density

  • Frequent greasy or large bowel movements

  • Difficulty passing stool

  • Infertility in male patients

Early diagnosis and treatment is key to having a long life with cystic fibrosis. Fortunately, all infants born in the United States are tested for cystic fibrosis, making early detection extremely likely. Cystic fibrosis has no cure at this time, but recent developments have led to greatly increased lifespans and quality of life for patients. The goals of treatment are to increase lifespan, decrease symptoms, decrease infections, improve lung function, and ensure nutrient absorption. Some common forms of treatment include:

  • Airway clearance techniques – As the name suggests, the goal is to clear the airway. Postural drainage and percussion sees the patient lying or sitting in different positions to allow mucus to drain from smaller passages into larger ones, which are less likely to become clogged. Then repetitive tapping helps loosen mucus further, possibly allowing the patient to cough some of the mucus out of his/her lungs. This process may need to be performed daily, depending on severity of symptoms.

  • Inhaled drugs – Delivered through a device like an asthma inhaler, these medications thin mucus, help clear the lungs, and/or fight infection.

  • Anti-inflammatories – Even simple over-the-counter anti-inflammatories may help reduce swelling in the lungs.

  • Oxygen therapy – If severe damage has been done to the lungs, a patient may need to breathe concentrated oxygen through nose prongs or a mask.

If you notice your child presenting symptoms of cystic fibrosis, contact his/her pediatrician.

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