Cystic Fibrosis

Question 1

Define and describe Cystic Fibrosis (10%)

Answer 1

Cystic fibrosis is an inherited condition that causes sticky mucus to build up in the lungs and digestive system. This causes lung infections and problems with digesting food.

Question 2

Give an account aetiology of Cystic Fibrosis (50%)

Answer 2

Cystic fibrosis is caused by mutations in a gene called the cystic fibrosis transmembrane conductance regulator (CFTR).

The CFTR gene provides instructions for the CFTR protein .

People who inherit two copies of a mutated CFTR gene (one copy from each biological parent) will have cystic fibrosis.

This faulty gene affects the movement of salt and water in and out of cells. This, along with recurrent infections, can result in a build-up of thick, sticky mucus particularly the lungs and digestive system.

Question 3

Pathophysiology of Cystic fibrosis
Classes of Cystic fibrosis

Answer 3

People with CF can have a variety of symptoms, including:

Very salty-tasting skin
Persistent coughing, at times with phlegm
Frequent lung infections including pneumonia or bronchitis
Wheezing or shortness of breath
Poor growth or weight gain in spite of a good appetite
Frequent greasy, bulky stools or difficulty with bowel movements
Chronic sinus infections
Clubbing or enlargement of the fingertips and toes
Rectal prolapse

Question 4

Outline the steps used in the diagnosis of Cystic Fibrosis (40%)

Answer 4

Cystic Fibrosis can be diagnosed based on:
* * Genetic testing to detect mutatedCFTRgenes.This test can confirm a positive cystic fibrosis screening test and sweat test.
* Prenatal diagnostic teststo diagnose cystic fibrosis in an unborn baby, using mutatedCFTRgenes.
* Clinical manifestations, supported by sweat or gene test results
* clinical manifestations alone, in the rare case of people with symptoms who have normal sweat or gene test results.