|What is Cystic fibrosis (CF)|
Cystic fibrosis (CF) is a hereditary disease that affects mainly the lungs and digestive system, causing progressive disability, and, in most cases, early death.
Formerly known as cystic fibrosis of the pancreas, this entity has increasingly been labeled simply cystic fibrosis. Average life expectancy is around 36.8 years, although improvements in treatments mean a baby born today could expect to live longer.
Difficulty breathing and insufficient enzyme production in the pancreas are the most common symptoms. Thick mucus production, as well as a less competent immune system, results in frequent lung infections, which are treated, though not always cured, by oral and intravenous antibiotics and other medications. A multitude of other symptoms, including sinus infections, poor growth, diarrhea, and potential infertility (mostly in males, due to the condition Congenital bilateral absence of the vas deferens) result from the effects of CF on other parts of the body. Often, symptoms of CF appear in infancy and childhood; these include meconium ileus, failure to thrive, and recurrent lung infections.
Cystic fibrosis is one of the most common life-shortening, childhood-onset inherited diseases. In the United States, 1 in 3900 children is born with CF. It is most common among Europeans and Ashkenazi Jews; one in twenty-two people of European descent carry one gene for CF, making it the most common genetic disease among such people.
Individuals with cystic fibrosis can be diagnosed prior to birth by genetic testing or in early childhood by a sweat test. Newborn screening tests are increasingly common and effective. There is no cure for CF, and most individuals with cystic fibrosis die young: many in their 20s and 30s from lung failure. However, with the continuous introduction of many new treatments, the life expectancy of a person with CF is increasing. Lung transplantation is often necessary as CF worsens.
CF is caused by a mutation in a gene called the cystic fibrosis transmembrane conductance regulator (CFTCR). The product of this gene is a chloride ion channel important in creating sweat, digestive juices, and mucus. Although most people without CF have two working copies of the CFTR gene, only one is needed to prevent cystic fibrosis. CF develops when neither gene works normally. Therefore, CF is considered an autosomal recessive disease. The name cystic fibrosis refers to the characteristic 'fibrosis' (tissue scarring) of the biliary tract ("cystic" being a generic term for all that is related to the biliary vesicle and/or the bladder), first recognized in the 1930s.
The symptoms of cystic fibrosis depend on the age of an individual, the extent the disease affects specific organs, prior therapy, and the types of infections experienced. Cystic fibrosis affects the entire body and impacts breathing, digestion, and sexual reproduction. The newborn period may be marked by poor weight gain and intestinal blockage caused by thick feces. Other symptoms of CF appear during the remainder of childhood and early adulthood. These include continued problems with growth, the onset of lung disease, and increasing difficulties with poor absorption of vitamins and nutrients by the gastrointestinal tract.