Cystic fibrosis - PubMed Health. Cystic fibrosis. Cystic fibrosis is an inherited disease characterized by the buildup of thick, sticky mucus that can damage many of the body's organs.
The disorder's most common signs and symptoms include progressive damage to the respiratory system and chronic digestive system problems. The features of the disorder and their severity varies among affected individuals. Mucus is a slippery substance that lubricates and protects the linings of the airways, digestive system, reproductive system, and other organs and tissues. Cystic fibrosis. Cystic fibrosis (CF), also known as mucoviscidosis, is an autosomal recessive genetic disorder that affects most critically the lungs, and also the pancreas, liver, and intestine.
It is characterized by abnormal transport of chloride and sodium across an epithelium, leading to thick, viscous secretions.[1] The name cystic fibrosis refers to the characteristic scarring (fibrosis) and cyst formation within the pancreas, first recognized in the 1930s.[2] Difficulty breathing is the most serious symptom and results from frequent lung infections that are treated with antibiotics and other medications.
Other symptoms—including sinus infections, poor growth, and infertility—affect other parts of the body. CF is caused by a frameshift mutation in the gene [3] for the protein cystic fibrosis transmembrane conductance regulator (CFTR).