cystic fibrosis

cystic fibrosis is a hereditary disorder characterized by lung congestion and infection and malabsorption of nutrients by the pancreas.  the genetic defect underlying cystic fibrosis disrupts the functioning of several organs by causing ducts or other tubes to become clogged, usually by thick, sticky mucus or other secretions.

airways - clogging and infection of bronchial passages impede breathing.  the infections progressively destroy the lungs.  lung disease accounts for most deaths from cystic fibrosis.

liver - plugging of small bile ducts impedes digestion and disrupts liver function in about 5% of patients.

pancreas - occlusion of ducts prevents te pancreas from delivering critical digestive enzymes to the bowel in 65% of patients.  diabetes can result as well.

small intestine - obstruction of the gut by thick stool necessitates surgery in about 10% of newborns.

reproductive tract - absence of fine ducts, such as the vas deferans, renders 95% of males infertile.  occasionally, women are made infertile by a dense plug of mucus that blocks sperm from entering the uterus.

skin - malfunctioning of sweat glands causes perspiration to contain excessive salt.  measurement of chloride in sweat is a mainstay of diagnosis.

symptoms vary greatly, but can include salty tasting skin, constant coughing or wheezing, frequent and prolonged cases of pneumonia, excessive appetite, inability to gain weight, and bulky stools.

currently, there is no cure for cystic fibrosis.  treatment is dependent upon the individual's specific symptoms and the stage of the disease.  the cf gene was discovered in 1989 and research focusing on a cure, including gene therapy, has been ongoing since then.  more effective treatments and medications are constantly being developed.

here is an image explaining gene therapy:

1 - cells are removed from patient

2 - in the laboratory, a virus is altered so that it cannot reproduce

3 - a gene is inserted into the virus

4 - the altered virus is mixed with cells from the patient

5 - the cells from the patient become genetically altered

6 - the altered cells are injected into the patient

7 - the genetically altered cells produce the desired protein or hormone