cáncer, fibrosis quística, enfermedad cardíaca, diabetes, hemofilia y SIDA. Actualmente, la única manera de que recibas terapia génica es. La fibrosis quística es causada por un solo cambio en la secuencia genética. La terapia génica es una forma de corregir los genes defectuosos que son la. UK Cystic Fibrosis Gene Therapy Consortium: Gene therapy for the lung disease cystic fibrosis. University of Oxford, Imperial College London, University of.

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Cystic Fibrosis Cystic fibrosis CF is a genetic inherited disease that affects mainly the lungs, the pancreas, and the sweat glands.

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Some CF patients develop serious liver disease. The abnormal CF gene changes the makeup of mucus in the airways, making it thick and sticky.

The body cannot clear this thick mucus from the airways, leading to recurrent lung infections that are difficult to treat. Gemica secretions also block other glands, causing them to function poorly.

Fisiología humana/Genética y herencia

Carriers of genoca gene do not have symptoms of CF, but if they have a child who inherits 2 copies one from each biological parent of the CF gene, that child will develop cystic fibrosis and can also pass the CF gene on to any children he or she may have.


In the past, most persons with CF found out about their condition when they had symptoms in childhood.

Newborn screening programs can now lead to earlier diagnosis and therapy to limit the impact of the disease. The September 9,issue of JAMA includes an article about genetic variations that contribute to the development of serious liver disease in cystic fibrosis.

Persons with CF have high concentrations of salt in their sweat because of abnormal sweat gland function. The gene for CF was identified in and genetic testing is now available.

Fibroxis can be done with prenatal before birth testing or in infants, children, and adults. Carriers of the CF gene can also be identified with genetic testing, which is offered as a component of family planning. Treatment is specific to each problem caused by CF.

Breathing treatments, chest physiotherapy specialized physical therapy to encourage drainage of lung secretionsexercise programs, and antibiotics may be used to treat lung disease and infections.

Oxygen may be used for more severe lung disease due to CF. Replacement of pancreatic enzymes substances made by the pancreas to help healthy digestion is typically needed. Multivitamins are usually prescribed genoca of potential vitamin deficiency due to poor absorption in the intestine.



For severe lung disease, placement of long-term intravenous IV catheters or feeding tubes may be required. Lung transplantation may be an option to improve functional status for some persons fihrosis severe CF, but transplantation genlca not cure CF and has risks of its own. There is no cure for CF. However, treatment of CF and its complications has improved so much in the last 50 years that survival and quality of life for children and adults with CF is much better than it was in the past.

The median age of survival for persons with CF is now more than 37 years, double what it was 25 years ago.

Many are available in English and Spanish. The information and recommendations appearing on this page are appropriate in most instances, but they are not a substitute for medical diagnosis. For specific information concerning quistiac personal medical condition, JAMA suggests that you consult your physician.

This page may be photocopied noncommercially by physicians and other health care professionals to share with patients.