Question

Discuss diagnostic odyssey when it comes to cystic fibrosis. Don't copy paste from google. Thanks!

Answer 1

Cystic fibrosis is a genetic disorder wherein the defective Cystic fibrosis genes is inherited from both the parents. People with one defective gene will be carriers. It is life threatening disorder affecting lungs and digestive system.

It causes fluids to become thick and sticky . Therefore, these thick secretions causes blockage of tubes, ducts resulting in symptoms like dyspnea.

Diagnosis :

Newborn screening :

These days the newborns are checked for cystic fibrosis. High levels of trypsin in the blood is indicative of cystic fibrosis which has to be ruled out.

Genetic testing : When the couple is planning for pregnancy, genetic testing is done to identify if there is carrier genes for cystic fibrosis. Prenatal screening prevents the incidence of cystic fibrosis. Delta F508 mutation is found in most of the people suffering from cystic fibrosis.

Sweat test : Sweat is collected and analysed for chloride levels . High levels of chloride is found in people with cystic fibrosis as the salt in sweat is prevented from reabsorption back into the sweat glands.

These are the diagnostic tests for cystic fibrosis.

Thank you.