Cystic Fibrosis Facts

Some of the facts about cystic fibrosis are listed below.

Cause
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).

Inheritance
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.

Main characteristics
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.

Onset
The condition usually manifests within the first year of life, although it may develop later.

Lungs
The mucus in the lungs becomes sticky and thick, leading to blockage of the airways and recurrent chest infections.

Gastrointestinal system
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.

Symptoms
The symptoms vary in their severity and from person to person but the disease significantly shortens the lifespan of sufferers.

Diagnosis
Diagnostic procedures include the sweat test and genetic analysis for confirmation. All newborns are screened for cystic fibrosis.

Treatment
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.

Further Reading

Last Updated: Feb 26, 2019

Dr. Ananya Mandal

Written by

Dr. Ananya Mandal

Dr. Ananya Mandal is a doctor by profession, lecturer by vocation and a medical writer by passion. She specialized in Clinical Pharmacology after her bachelor's (MBBS). For her, health communication is not just writing complicated reviews for professionals but making medical knowledge understandable and available to the general public as well.

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