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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]
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. [1]
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]
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.
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.
[3] [12] A biopsy of the pancreas is not required for the diagnosis. [3] On imaging, pancreatic and bile duct dilatation, atrophy of the pancreas, multiple calcifications of the pancreas, and enlargement of pancreatic glands can be found. [12] On MRI scan, there is a low T1 signal due to inflammation, fibrosis, focal lesions, and calcifications.
Cystic fibrosis related diabetes mellitus (CFRD) develops with age, and the median age at diagnosis is 21 years. [1] It is an example of type 3c diabetes – diabetes that is caused by damage to the pancreas from another disease or condition.