 Sistic
Fibrosis
(Misspelling of Cystic Fibrosis)
WHAT IS
Sistic Fibrosis?
Sistic Fibrosis (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.
Sistic Fibrosis (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.
Sistic Fibrosis (Cystic
fibrosis) is caused by a mutation in a gene called the cystic
fibrosis transmembrane conductance regulator (CFTR). 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. In addition, difficulties with fertility may
become apparent when reproduction is attempted. |
