What happens to the body with cystic fibrosis?

Cystic fibrosis (CF) is an inherited disease that affects the lungs, digestive system, and other organs.

In individuals with CF, defective mutations in the CFTR gene lead to mutations or dysregulation of the cystic fibrosis transmembrane conductance regulator (CFTR) protein, which is normally responsible for regulating salt and water transport in various tissues.

The mutations impair the function of the CFTR protein, leading to several problems in different parts of the body:

1. Lungs:

- Thickened mucus accumulates in the airways, causing difficulty in breathing, chronic respiratory infections, and progressive lung damage over time.

2. Digestive system:

- Pancreatic insufficiency: The pancreas produces insufficient enzymes necessary for fat digestion, leading to malabsorption and malnutrition.

- Intestinal blockages: Thickened mucus can also cause blockages in the intestines, especially in newborns.

3. Other organs:

- Liver disease: Cirrhosis can occur due to chronic liver inflammation and scarring related to CF.

- Reproductive issues: Men may have infertility due to abnormal development or blockage of the vas deferens, while women may experience reduced fertility.

- Diabetes: Individuals with CF may develop diabetes mellitus as a result of pancreatic damage.

- Arthritis: Joint pain and inflammation can be a manifestation of CF.