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Posted on: January 20, 2017

There are several different diseases that have occupied prominent positions in the spotlight of the national media in recent years. One of these diseases is called cystic fibrosis. While many people have heard about this deadly, life-altering disease, many people still have questions regarding what cystic fibrosis actually is. With this in mind, we have provided some important information regarding cystic fibrosis below.

What is Cystic Fibrosis?
Cystic fibrosis is known as a chronic lung condition that is acquired at birth. This lung condition results from one or more mutations in the DNA that codes for an important protein in the lung called the CFTR (cystic fibrosis transmembrane regulator). This protein controls the flow of chloride ions and water into and out of the lung. If the DNA is mutated, this protein does not function properly. The degree of malfunction depends on both the number and the severity of the DNA mutations. Because this protein doesn’t function well, patients develop a variety of pulmonary and gastrointestinal symptoms.

What are Some of the Symptoms of Cystic Fibrosis?
While most people associate the symptoms of cystic fibrosis with lung disease, people often don’t realize that this protein is also produced in the pancreas. If the digestive pancreatic enzymes cannot leave the pancreas because of a blockage, they can cause considerable damage because they start breaking down the pancreas instead of going to the gastrointestinal tract to help digest food. Because the protein doesn’t function well in the lung, patients develop a multitude of pulmonary symptoms. Examples of signs and symptoms include:

  • Chronic cough
  • Trouble breathing
  • Excess mucus production
  • Chronic lung infections
  • Vitamin deficiencies, malabsorption
  • Abdominal cramping, constipation, or frequent loose stools
  • Poor weight gain and growth

All of the pulmonary symptoms, including infection, result from difficulty clearing the airway. It is harder for patients with cystic fibrosis to clear their airway because they lack good function of the proteins on the surface of the lung. The abdominal symptoms and vitamin deficiencies result in part from damage to the pancreas which then impairs fat digestion and vitamin absorption from the intestines. Some patients with cystic fibrosis also have fertility problems.

Diagnosis of Cystic Fibrosis
Screening for cystic fibrosis is performed during newborn exams at birth. If there are signs that cystic fibrosis might be present, patients will receive a sweat chloride test. There are also times when a sweat test should be performed even when the initial newborn screening test is normal. This test looks for excess chloride in the sweat caused by a malfunction of the chloride transporter in the sweat duct of the skin. If the sweat chloride test is abnormal, patients will receive genetic testing for confirmation of cystic fibrosis.

Treatment of Cystic Fibrosis
The treatment of cystic fibrosis has been a focus of research in the past few decades. Treatments have improved drastically. In addition to receiving antibiotics to help with the treatment of recurrent infections, patients also receive physiotherapy regularly to help improve the clearance of mucus from the lungs. Other treatments include steroids, saline, and a medication called DNAse to help patients clear mucus better. Newer treatments are also under development. Some patients are even candidates for a lung transplant.

If you still have questions or concerns regarding cystic fibrosis, feel free to contact us for more information. At Carolina Asthma & Allergy Center, we have developed an impressive track record of providing exceptional asthma and allergy care to patients of all ages for over 65 years. Call us to schedule your appointment today!