CYSTIC FIBROSIS
Cystic
fibrosis (CF) is a genetic disorder that affects mostly the lungs but also the
pancreas, liver, kidneys, and intestine. It is produced by a mutation in the
gene encoding the regulatory protein transmembrane conductance cystic fibrosis.
The disease develops when neither allele is functional. The name cystic fibrosis refers to the
characteristic processes scarring (fibrosis) and cyst formation within the
pancreas, It also receives the name mucoviscidosis.
CF affects
multiple organ systems, causing abnormal and thick secretions of the exocrine
glands. It is characterized by weight
gain and intestinal blockage caused by thick, bulky stools. Other symptoms
appear later in childhood and early adulthood. These include growth
retardation, advent of lung disease, and increasing difficulties by poor
absorption of vitamins and nutrients in the gastrointestinal tract. 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, etc.
Sufferers
have a high concentration of salt (NaCl) in sweat, allowing make the diagnosis
by analyzing, performing the sweat test. Also through prenatal genetic testing,
birth through gibson and cooke.
Described
more than 1500 mutations for this disease, most of them are small deletions or
point mutations; less than 1% are due to mutations in the promoter or
chromosomal rearrangements.
The main
cause of morbidity and mortality is lung involvement, causing 95% of deaths. There
is no curative treatment, however are possible treatments that can improve
symptoms and prolong life expectancy. In severe cases, worsening the disease
can impose the need for a lung transplant. The median survival for these
patients worldwide is estimated at 35 years.
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