What are the various factors that cause cystic fibrosis?

What are the various factors that cause cystic fibrosis?

My father has been diagnosed with cystic fibrosis. I know that this diseases is typically diagnosed during childhood, but he's only been recently diagnosed. What factors could have led to his diagnosis? Is this disease more than just genetics?

2 Answers

Dr. Kwame Anyane-Yeboa

Geneticist

New York, NY

Most frequent symptoms of CF are recurrent pulmonary and sinus infections. There are over 1800 genetic mutations in the CF gene. Severity of condition depends on which 2 mutations are passed to that individual. An individual with CF inherits 1 copy of the mutation from each parent. Late detection suggests that the mutations are most likely mutations that cause mild disease. Mutations can be detected by genetic testing.

Luigi Boccuto

Geneticist

Greenwood, South Carolina

Good afternoon,

The typical symptoms suggesting a test for cystic fibrosis are usually related to respiratory problems. However, this condition can also affect other organs, like the pancreas, causing digestive issues. The disease is genetic: mutations in the CFTR gene are the cause.

Best,

Luigi Boccuto, MD