Wikipedia:VideoWiki/Cystic fibrosis

Definition
Cystic fibrosis (or CF for short) is a genetic disorder that affects mostly the lungs, but also the pancreas, liver, kidneys, and intestines.

Symptoms
Long-term issues include difficulty breathing, and coughing up mucus, as a result of frequent lung infections.

Other symptoms
Other signs and symptoms may include sinus infections, poor growth, fatty stool, clubbing of the fingers and toes, and infertility in most males.

Cause
CF is inherited in an autosomal recessive manner.

Mechanism of genetic defect
It is caused by the presence of mutations in both copies of the gene for the cystic fibrosis transmembrane conductance regulator, (or CFTR) protein.

Carriers
Those with a single working copyof CFTR, are carriers, and otherwise mostly normal.

Systems affected by genetic defect
CFTR is involved in the production of sweat, digestive fluids, and mucus.

Effects of genetic defect
When the CFTR is not functional, secretions which are usually thin, become thick.

Diagnosis
The condition is diagnosed by a sweat test, and genetic testing. 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.

Treatment
There is no known cure for cystic fibrosis, and the most common complications come from lung infections.

Treatment of pneumonia
Acute lung infections are treated with antibiotics, which may be given intravenously, inhaled, or by mouth.

Physiotherapy
Airway clearance techniques, such as chest physiotherapy have some short-term benefit, but the long-term effects are unclear.

Prevention of lung infections
Sometimes, when someone has repeated infections, the antibiotic azithromycin is used long term. Inhaled hypertonic saline, and salbutamol, may also be useful.

Lung transplant
and lung transplantation may be an option, when lung function becomes very poor.

Pancreatic enzyme replacement
Aside from treatment of the lungs, Pancreatic enzyme replacement ,and fat-soluble vitamin supplementation are also important, especially in the young.

Prognosis
The average life expectancy, for those affected by CF, is between 42, and 50 years, in the developed world, with lung problems being responsible for roughly 80% of related deaths.

Epidemiology
CF is most common among people of Northern European ancestry, and affects about one out of every 3,000 newborns. In addition, about one in 25 people in Northern Europe is a CF gene carrier. The disease is least common in Africans, and Asians.

History
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.

Etymology
The name "cystic fibrosis" refers to the characteristic fibrosis, and cysts, that form within the pancreas.