Fibrocystic disease of the pancreas, also known as cystic fibrosis (CF), is a genetic disorder characterized by the abnormal function of certain exocrine glands in the body, including the pancreas. It is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which leads to the production of a defective CFTR protein.
The pancreas, an organ located in the abdomen, plays a crucial role in digestion and the regulation of blood sugar levels. In individuals with fibrocystic disease of the pancreas, the abnormal CFTR protein disrupts the normal flow of salt and fluids across cell membranes in the pancreas, resulting in the production of thick, sticky mucus. This mucus obstructs the ducts of the pancreas, impairing the release of digestive enzymes and insulin into the digestive system and bloodstream, respectively.
Symptoms of fibrocystic disease of the pancreas usually manifest early in childhood and vary in severity. They may include persistent coughing with phlegm, recurrent respiratory infections, poor growth and weight gain, salty-tasting skin, excessive thirst, frequent urination, and greasy, bulky stools. Other organs, such as the lungs, liver, and intestines, can also be affected by the abnormal CFTR protein, leading to additional complications.
While there is no cure for fibrocystic disease of the pancreas, medical advancements have led to improved treatments aimed at managing its symptoms and preventing complications. These may include pancreatic enzyme replacement therapy, medications to promote airway clearance, nutritional interventions, and regular monitoring for any potential complications. Genetic testing and counseling are also recommended for individuals and families affected by this hereditary condition.
