WHAT IS CYSTIC FIBROSIS?

CYSTIC FIBROSIS IS A GENETIC DISEASE THAT SPECIFICALLY AFFECTS THE RESPIRATORY, DIGESTIVE, AND REPRODUCTIVE SYSTEM OF AN INDIVIDUAL.


Cystic fibrosis is a defect in the CFTR (cystic fibrosis transmembrane conductance regulator) gene. This gene makes a protein that controls the movement of salt and water in and out of an individual’s body. A defective CFTR protein disrupts the balance of salt and water and causes mucus to become thick, sticky, and hard to move.

line

The purpose of mucus is to trap and clear potential germs caused when breathing. Since an individual with CF has thick and sticky mucus, germs become trapped and lung infections form. Additionally, thick mucus blocks enzymes from reaching intestines to digest food. This makes it very difficult for individuals with CF to gain weight.

CAUSE

Every person inherits two CFTR genes (one from each parent). Children that inherit a defective CFTR gene from each parent will have cystic fibrosis. When children inherit one defective CFTR gene and one normal CFTR gene, they become “CF carriers”.

A “CF carrier” will lead a symptom-free life, but can pass on the defective CFTR gene to their children. Most individuals are diagnosed as infants; however, due to a variation in the severity of symptoms, 15% of individuals are diagnosed later in life.

SYMPTOMS

Cystic fibrosis causes individuals to have nasal congestion, sinus problems, wheezing, and asthma-like symptoms. Repeated lung infections, a chronic cough that produces thick mucus, and the feeling of being always short of breath are also common. Due to the digestive difficulties, intestines do not absorb fats and proteins. Instead, the nutrients pass through the body rather than helping it grow.

There is no cure for
cystic fibrosis