By Dr Ananya Mandal, MD
Some of the facts about cystic fibrosis are listed below.
Cystic fibrosis is a genetic disorder that arises due to a mutation in the gene that codes for the cystic fibrosis transmembrane conductance regulator (CFTR).
Everyone inherits two CFTR genes, one from their mother and one from their father. When a person inherits one abnormal copy of the CFTR gene, they are termed a carrier. If that person has a baby with another carrier, there is a one-in-four chance that their offspring will not inherit either of the faulty genes. However, there is a one-in-two chance the child will inherit one faulty gene and be a carrier of the condition and a one-in-four chance they will inherit both mutated genes and develop the disease.
The CFTR protein a is a transmembrane regulator that controls the flow of salt and water in and out of the body’s cells. In cystic fibrosis, mutation of the CFTR gene leads to the formation of a protein that lets too much salt and not enough water into the cells. This leads to a build up thick and sticky mucus in the tubes and passageways of the lungs and digestive system, which become damaged, infected and inflamed.
The condition usually manifests within the first year of life, although it may develop later.
The mucus in the lungs becomes sticky and thick, leading to blockage of the airways and recurrent chest infections.
Cystic fibrosis also affects ducts in the liver, biliary tract and the pancreas. Blocked pancreatic ducts can reduce the secretion of digestive enzymes, disrupting the breakdown and absorption of food in the intestine.
The symptoms vary in their severity and from person to person but the disease significantly shortens the lifespan of sufferers.
Diagnostic procedures include the sweat test and genetic analysis for confirmation. All newborns are screened for cystic fibrosis.
Cystic fibrosis is not curable. Treatment is aimed at easing symptoms as much as possible and preventing or reducing the long-term damage that can arise from infections and other complications. Nutritional, respiratory and physical therapies often help ease symptoms.
Reviewed by Sally Robertson, BSc
Last Updated: Apr 14, 2014