More about cystic fibrosis
Cystic fibrosis (CF) is a severe genetic condition that affects the digestive and respiratory systems. It causes damage to the lungs, liver, pancreas, and intestines – resulting in the buildup of thick and sticky mucus. The mucus associated with cystic fibrosis blocks the air going into and out of the lungs. It causes symptoms such as shortness of breath, wheezing, a persistent cough, stuffy nose, stuffy sinuses, and recurring lung infections. What’s more, the abnormal mucus can block the passageways that carry the enzymes produced by the pancreas to the small intestine. Without these enzymes, the intestine cannot absorb the necessary nutrients it needs from food and can bring forth several digestive complications such as swollen abdomen, nausea, constipation, loss of appetite, foul-smelling stools, and delayed growth in children. The symptoms of cystic fibrosis generally depend on the individual in question and the severity of their condition. Moreover, the age at which the symptoms develop can also vary. For some children, symptoms may appear during childhood, while for others, they may not develop until after puberty or even later on in life. As time goes on, symptoms associated with cystic fibrosis may get better or worse, depending on the individual’s overall health and their response to treatment.
Cystic fibrosis is caused by single gene mutations that produce the protein known as CFTR – cystic fibrosis transmembrane conductance regulator. This protein is in charge of controlling the water and salt content in the bodily cells that line the lungs and other organs. A sudden change or rather mutation in the CFTR gene, can cause the mucus to become much thicker and sticker. Left untreated, cystic fibrosis can lead to life-threatening problems, such as respiratory failure, infections, breathing problems, malnutrition, and other complications. For this reason, early diagnosis and proper treatment are vital to improving an individual’s quality of life. While cystic fibrosis cannot be prevented, genetic testing can be performed in individuals with cystic fibrosis or those who have relatives with the disease. As for concerned parents, genetic testing can determine a child’s risk for cystic fibrosis.