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Cystic fibrosis (or CF for short) is a genetic disorder that affects mostly the lungs, but also the pancreas, liver, kidneys, and intestines. [1] [2]
Long-term issues include difficulty breathing, and coughing up mucus, as a result of frequent lung infections. [1]
Other signs and symptoms may include sinus infections, poor growth, fatty stool, clubbing of the fingers and toes, and infertility in most males. [1]
CF is inherited in an autosomal recessive manner. [1]
It is caused by the presence of mutations in both copies of the gene for the cystic fibrosis transmembrane conductance regulator, (or CFTR) protein. [1]
Those with a single working copyof CFTR, are carriers, and otherwise mostly normal. [3]
CFTR is involved in the production of sweat, digestive fluids, and mucus. [4]
When the CFTR is not functional, secretions which are usually thin, become thick. [5]
The condition is diagnosed by a sweat test, and genetic testing. [1] In parts of the world, where the defect in the gene is very common, screening of infants at birth with a sweat test may take place. [1]
There is no known cure for cystic fibrosis, [3] and the most common complications come from lung infections.
Acute lung infections are treated with antibiotics, which may be given intravenously, inhaled, or by mouth. [1]
Airway clearance techniques, such as chest physiotherapy have some short-term benefit, but the long-term effects are unclear. [6]
Sometimes, when someone has repeated infections, the antibiotic azithromycin is used long term. [1] Inhaled hypertonic saline, and salbutamol, may also be useful. [1]
and lung transplantation may be an option, when lung function becomes very poor. [1]
Aside from treatment of the lungs, Pancreatic enzyme replacement ,and fat-soluble vitamin supplementation are also important, especially in the young. [1]
The average life expectancy, for those affected by CF, is between 42, and 50 years, in the developed world, [7] [8] with lung problems being responsible for roughly 80% of related deaths. [1]
CF is most common among people of Northern European ancestry, and affects about one out of every 3,000 newborns. [1] In addition, about one in 25 people in Northern Europe is a CF gene carrier. [3] The disease is least common in Africans, and Asians. [1]
Cystic fibrosis was first recognized as a specific disease, by Dorothy Andersen, in 1938, although descriptions of conditions that fit the disease, have been found as far back as the year 1595. [2]
The name "cystic fibrosis" refers to the characteristic fibrosis, and cysts, that form within the pancreas. [2] [9]