Longman Dictionary of Contemporary English
n. (context pathology English) An inherited condition in which the exocrine glands produce abnormally viscous mucus, causing chronic respiratory and digestive problems.
Cystic fibrosis (CF) is a genetic disorder that affects mostly the lungs, but also the pancreas, liver, kidneys, and intestine. Long-term issues include difficulty breathing and coughing up mucus as a result of frequent lung infections. Other signs and symptoms include sinus infections, poor growth, fatty stool, clubbing of the fingers and toes, and infertility in males, among others. Different people may have different degrees of symptoms.
CF is inherited in an autosomal recessive manner. It is caused by the presence of mutations in both copies of the gene for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. Those with a single working copy are carriers and otherwise mostly normal. CFTR is involved in production of sweat, digestive fluids, and mucus. When CFTR is not functional, secretions which are usually thin instead become thick. The condition is diagnosed by a sweat test and genetic testing. Screening of infants at birth takes place in some areas of the world.
No cure for cystic fibrosis is known. Lung infections are treated with antibiotics which may be given intravenously, inhaled, or by mouth. Sometimes, the antibiotic azithromycin is used long term. Inhaled hypertonic saline and salbutamol may also be useful. Lung transplantation may be an option if lung function continues to worsen. Pancreatic enzyme replacement and fat-soluble vitamin supplementation are important, especially in the young. Airway clearance techniques such as chest physiotherapy have some short-term benefit, but long-term effects are unclear. The average life expectancy is between 42 and 50 years in the developed world. Lung problems are responsible for death in 80% of people with cystic fibrosis.
CF is most common among people of Northern European ancestry and affects about one out of every 3,000 newborns. About one in 25 people is a carrier. It is least common in Africans and Asians. It was first recognized as a specific disease by Dorothy Andersen in 1938, with descriptions that fit the condition occurring at least as far back as 1595. The name 'cystic fibrosis' refers to the characteristic fibrosis and cysts that form within the pancreas.
Usage examples of "cystic fibrosis".
A heart transplant is out of the question because of the cystic fibrosis.
Considering all that she'd been through with her cystic fibrosis, it wasn't much to ask for.
But less than two weeks after we buried you, they told me I had cystic fibrosis, too.
He was all too familiar with the unpredictable variation of good days and bad days that cystic fibrosis inflicted on its victims and their families.
A single gene mutation at this site produces a disease known as cystic fibrosis, which drastically alters the secretory function of the lungs and pancreas.