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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 transmembrane conductance regulator. Cystic fibrosis transmembrane conductance regulator (CFTR) is a membrane protein and anion channel in vertebrates that is encoded by the CFTR gene. [ 5 ][ 6 ] Geneticist Lap-Chee Tsui and his team identified the CFTR gene in 1989 as the gene linked with CF (cystic fibrosis).
Definition. 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 ...
Cystic fibrosis (CF) is an autosomal recessive hereditary monogenic disease of the lungs, sweat glands and digestive system. The disorder is caused by the malfunction of the CFTR protein, which controls intermembrane transport of chloride ions, which is vital to maintaining equilibrium of water in the body. The malfunctioning protein causes ...
The Cystic Fibrosis Foundation (CFF) is a 501 (c) (3) non-profit organization in the United States established to provide the means to cure cystic fibrosis (CF) and ensure that those living with CF live long and productive lives. The Foundation provides information about cystic fibrosis and finances CF research that aims to improve the quality ...
The diagnosis of cystic fibrosis (CF) is usually based on high chloride concentrations in sweat, characteristic clinical findings (including sinopulmonary infections), and/or family history. However, a small portion of patients with cystic fibrosis, especially those with "mild" mutations of the cystic fibrosis transmembrane regulator (CFTR) ion ...
Distal intestinal obstruction syndrome (DIOS) involves obstruction of the distal part of the small intestines by thickened intestinal content and occurs in about 20% of mainly adult individuals with cystic fibrosis. [1] DIOS was previously known as meconium ileus equivalent, a name which highlights its similarity to the intestinal obstruction ...
Sweat test. Sweat test. Purpose. measures concentration of chloride. The sweat test measures the concentration of chloride that is excreted in sweat. It is used to screen for cystic fibrosis (CF). [1] Due to defective chloride channels (CFTR), the concentration of chloride in sweat is elevated in individuals with CF.