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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.
Ivacaftor is a medication used to treat cystic fibrosis in people with certain mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene (primarily the G551D mutation), who account for 4–5% cases of cystic fibrosis.
Cystic fibrosis (CF) is an autosomal recessive and monogenetic disorder. It is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. [3] The CFTR protein (Figure 1) serves to move chloride ions to the surface of cells to ensure proper hydration. When this protein becomes dysfunctional, the chloride ions are ...
Cystic fibrosis: More than 1,800 mutations in the CFTR gene have been found [69] but the majority of these have not been associated with cystic fibrosis. [70] 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 ...
A Finnish heritage disease is any genetic disease or disorder that is significantly more common in people whose ancestors were ethnic Finns, natives of Finland and Northern Sweden (Meänmaa) and Northwest Russia (Karelia and Ingria). There are 36 rare diseases regarded as Finnish heritage diseases. [1] The diseases are not restricted to Finns ...
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]
Pneumonia is usually caused by infection with viruses or bacteria, and less commonly by other microorganisms. [a] Identifying the responsible pathogen can be difficult. Diagnosis is often based on symptoms and physical examination. [8] Chest X-rays, blood tests, and culture of the sputum may help confirm the diagnosis. [8]
Pseudomonas can, in rare circumstances, cause community-acquired pneumonias, [39] as well as ventilator-associated pneumonias, being one of the most common agents isolated in several studies. [40] Pyocyanin is a virulence factor of the bacteria and has been known to cause death in C. elegans by oxidative stress.