#96 Cystic Fibrosis (English)

What is it?

Cystic fibrosis is a genetic disorder that affects mainly the lungs but it can also affect the pancreas, liver, kidneys, and intestine. Cystic fibrosis affects the cells that produce mucus, sweat and digestive juices. It causes the secretion to become sticky and thick. As normal mucus, sweat and digestive juices are meant to act as a lubricant, in people with cystic fibrosis, because it's so thick, it blocks passageways and causing difficulty breathing.

Life expectancy of someone with this disease is 35 years, but individuals with adequate pancreatic function, life expectancy is 50 years. 

Causes

It's caused by a mutation in the gene called cystic fibrosis transmembrane conductance regulator, also known as CFTR. There are several possible mutations to the gene, it can create a protein that does not fold properly and is degraded to the cell and it can also cause proteins to be too short due to a premature end to production. Some other mutations to the gene are ones that do not allow chloride, iodide and thiocyanate to pass.

However, for cystic fibrosis to occur, the child has to inherit a copy of the gene from both parents. If they only inherit one, they won't develop cystic fibrosis but will be carries and could pass it onto their children.

Symptoms

-    salty-tasting skin

-    Poor growth & poor weight gain despite normal food intake

-    Clubbing of fingers & toes

-    Sticky & thick mucus

-    Frequent chest infections

-    Constant coughing

-    Males can be infertile

Complications

-    Bronchiectasis, a condition that damages airways blocking air from entering and existing the lungs

-    Chronic infections such as bronchitis and pneumonia as the mucus provides and ideal environment for bacteria and fungi

-    Nasal polyps, which are soft, fleshy growths that can develop inside the nose as its lining is inflamed. Can obstruct breathing during sleep

-    Respiratory failure, over a long period of time the damage of cystic fibrosis can be so bad and damage lung tissue so much that it no longer works.

-    Nutritional deficiencies, prevent digestive enzymes from traveling to your large intestine

Diagnosis

-    Sweat test, to see if it's saltier than normal

-    Genetic testing, DNA sample from blood to see if there are defects of the CFTR gene 

Treatment

There is no known cure for cystic fibrosis, but some treatments can ease symptoms and reduce complications.

-    Medication; prevents and treats lung infections, mucus thinning drugs can be used to expand the airways, medicine that relaxes the muscles around your bronchioles.

-    Chest physical therapy; helps loosen mucus and therefore makes it easier to cough up.

-    Surgery; nasal polyp removal, endoscopy & lavage which is the suction of the mucus and even a lung transplant might be necessary when the mucus causes severe breathing problems.

-    Feeding tubes; since it interferes with the release of digestive enzymes, feeding tubes may be used to provide the patient with necessary nutrients.

KHL