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sábado, 7 de mayo de 2016


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.

Mauna Rabhi Essamhi

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