Cystic fibrosis

What is Cystic Fibrosis?

Cystic fibrosis (CF) is a genetic disorder that affects the lungs, pancreas, liver, intestines, sinuses, and sex organs. It is caused by a mutation in a gene called the cystic fibrosis transmembrane conductance regulator (CFTR). This mutation causes the body to produce thick, sticky mucus that can build up in the lungs and digestive system. CF is one of the most common life-shortening genetic diseases in children and young adults.

Signs and Symptoms of Cystic Fibrosis:

The signs and symptoms of cystic fibrosis can vary from person to person. Common symptoms include:

  • Coughing, Wheezing, and Shortness of Breath
  • Frequent Pneumonia and Recurring Chest Infections
  • Weight Loss or Failure to Gain Weight
  • Excessive Appetite yet Poor Growth and Weight Gain
  • Greasy, Smelly Stool (Steatorrhea)
  • Salty-Tasting Skin
  • Infertility (In Men)
  • Inflammatory Bowel Disease

Diagnosis and Treatment of Cystic Fibrosis

Cystic fibrosis is usually diagnosed through a blood or sweat test. The sweat test measures the concentration of salt in the sweat to determine if there is an abnormal level of chloride, which is a sign of CF. The blood test measures a sample of DNA to determine if there is mutation in the CFTR gene.

Treatment for cystic fibrosis is focused on controlling symptoms, preventing and treating infection, and improving quality of life. Common treatments include:

  • Medications to Clear Mucus from the Lungs
  • Physical Therapy to Improve Breathing
  • Nutritional Supplements to Help with Absorption of Nutrients
  • Lung Transplants for Severe Cases