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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 may also lead to arthropathies. [5] These symptoms and co-morbidities can ultimately lead to nutritional deficits and highly decreased quality of life. [6] Compared to white patients, black patients have more severe pulmonary imaging findings and display more respiratory
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]
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.
Cystic fibrosis is caused by defects in a protein found in many tissues, including the airways and the sweat glands. [1] As a result, these tissues do not work properly. Sweat testing makes use of the fact that cystic fibrosis patients have defective sweat glands. [2]
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 ...
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]
Each centre has a slightly different gene panel; currently 40–50 of the most common genes are sequenced. However, there are more than 2,000 known mutations, so gene panel testing does miss occasional CF patients. [medical citation needed] If gene testing finds one mutation they will then have a sweat test to help confirm the diagnosis. Sweat ...