Departamento de cultura cientfica. I.E.S. Marqus de los Vlez.

CYSTIC FIBROSIS

Mara Kravchynska 1Bachillerato B

Departamento de cultura cientfica. I.E.S. Marqus de los Vlez.

CYSTIC FIBROSIS

Cystic fibrosis (CF) is a genetic disorder that affects mostly the lungs but also the pancreas, liver,
kidneys, and intestine. Long-term issues include difficult breathing and coughing up mucus as a
result of frequent lung infections. Other symptoms include sinus infections, poor growth, fatty stool,
clubbing of the fingers and toes, and infertility in males, among others. There can be different
degrees of symptoms.
Cystic fibrosis 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.
CF is caused by a mutation in the gene CFTR. The most common mutation is a deletion of three
nucleotides that results in a loss of the amino acid phenylalanine (F) at the 508th position on the
protein. There are over 1500 other mutations that can produce CF. Although most people have two
working copies (alleles) of the CFTR gene, only one is needed to prevent cystic fibrosis. CF
develops when neither allele can produce a functional CFTR protein. Thus, CF is considered an
autosomal recessive disease.

There is no cure for this genetic disorder. Lung infections are treated with antibiotics which may be
given intravenously, inhaled, or by mouth. 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. 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 affects about one out of every 3,000 newborns. About one in 25 people are carriers. It was first
recognized as a specific disease by Dorothy Andersen in 1938. The name cystic fibrosis refers to the
characteristic fibrosis and cysts that form within the pancreas.

Mara Kravchynska 1Bachillerato B