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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.
Differentiation of DIOS from constipation is generally performed by a unit specializing in the treatment of cystic fibrosis. Adequate hydration and an aggressive regimen of laxatives are essential for treatment and prevention of DIOS. Osmotic laxatives such as polyethylene glycol are preferred. [1]
The concentration of sodium in sweat is also elevated in cystic fibrosis. Unlike CFTR chloride channels, sodium channels behave perfectly normally in cystic fibrosis. However, in order for the secretion to be electrically neutral, positively charged sodium cations remain in the sweat along with the negatively charged chloride anions.
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 ...
Clubbing is associated with lung cancer, lung infections, interstitial lung disease, cystic fibrosis, or cardiovascular disease. [5] Clubbing may also run in families, [5] and occur unassociated with other medical problems. [6] [7] Clubbing has been recognized as a sign of disease since the time of Hippocrates. [5]
Fibrosing colonopathy is a disease that arises in people with cystic fibrosis treated with high doses of pancreatic enzyme supplements. [1] [2] Symptoms are non-specific with abdominal pain, abdominal swelling, vomiting, and constipation.
Certain states require only a single immunoreactive trypsinogen test to be performed within hours or days of birth before requiring additional diagnostic screenings for infants with elevated IRT levels. Of these, some follow up one elevated IRT result with DNA screening to identify cystic fibrosis-specific genetic mutations.
In addition to focusing on improving detection and diagnosis, understanding CF microorganisms, and developing new treatments, optimizing current treatments, and evaluating long-term antimicrobial use, the Cystic Fibrosis Foundation is currently [when?] striving for more equity and timeliness in cystic fibrosis newborn screening. [37] Cystic ...
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