Cystic Fibrosis
Cystic fibrosis (CF) is a hereditary disease that affects the entire body, causing progressive disability and early death. Formerly known as cystic fibrosis of the pancreas, this entity has increasingly been labeled simply 'cystic fibrosis.'
Difficulty breathing is the most common symptom and results from frequent lung infections, which are treated, though not always cured, by antibiotics and other medications. A multitude of other symptoms, including sinus infections, poor growth, diarrhea, and potential infertility result from the effects of CF on other parts of the body.
1 in 2500 children are born with CF, and it is one of the most common fatal inherited diseases. It is most prevalent among Europeans and Ashkenazi Jews; one in twenty-two people of European descent carries one gene for CF, making it the most common genetic disease among them. Individuals with cystic fibrosis can be diagnosed prior to birth by genetic testing or in early childhood by a sweat test. There is no cure for CF, and most individuals with cystic fibrosis die young — many in their 20s and 30s from lung failure. Ultimately, lung transplantation is often necessary as CF worsens.
CF is caused by a mutation in a gene called the cystic fibrosis transmembrane conductance regulator (CFTR). The product of this gene helps create 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 most consistent aspect of therapy in cystic fibrosis is limiting and treating the lung damage caused by thick mucus and infection with the goal of maintaining quality of life. Intravenous, inhaled, and oral antibiotics are used to treat chronic and acute infections. Mechanical devices and inhalational medications are used to alter and clear the thickened mucus. Other aspects of CF therapy involve treatment of diabetes with insulin, pancreatic disease with enzyme replacement, and infertility with advanced reproductive techniques. In addition, therapies such as transplantation and gene therapy aim to cure some of the effects of cystic fibrosis.
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