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Cystic fibrosis (also known as CF or mucoviscidosis) is an autosomal recessive genetic disorder affecting most critically the lungs, and also the pancreas, liver, and intestine.
Cystic fibrosis is an inherited (genetic) disease that can present with symptoms within the first two years of life. The genetic defect results in the production of thick mucus in the lungs, pancreas, liver, small intestine, and reproductive organs.
Cystic fibrosis: More than 1,800 mutations in the CFTR gene have been found [71] but the majority of these have not been associated with cystic fibrosis. [72] Most of these mutations either substitute one amino acid (a building block of proteins) for another amino acid in the CFTR protein or delete a small amount of DNA in the CFTR gene. The ...
Fibrosis, also known as fibrotic scarring, is the development of fibrous connective tissue in response to an injury. Fibrosis can be a normal connective tissue deposition or excessive tissue deposition caused by a disease. [2]
Dorothy Hansine Andersen (May 15, 1901 – March 3, 1963) was the American physician and researcher who first identified and named cystic fibrosis.During her almost thirty year tenure at Babies Hospital of Columbia-Presbyterian Medical Center (now Morgan Stanley Children's Hospital), Andersen not only identified CF and its inheritance through a recessive gene, she was also at the forefront of ...
14-year-old Judah was diagnosed with cystic fibrosis at 2 weeks old and with the help ... more but the fact of the matter is that Judah didn’t ask for this disease to happen, and no child asks ...
Alyftrek's precursor, Trikafta, earned approval to treat cystic fibrosis patients with 94 new mutations. Approval to address those new mutations should translate to roughly 300 new U.S. patients.
People with cystic fibrosis may experience salty skin, persistent coughing, lung infections such as pneumonia and bronchitis, and wheezing and shortness of breath. Cystic fibrosis can also cause poor weight gain and growth, nasal polyps, chronic sinus infections, clubbing or enlargement of fingers and toes, infertility in males, and rectal ...
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