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Failure to thrive (FTT), also known as weight faltering or faltering growth, indicates insufficient weight gain or absence of appropriate physical growth in children. [ 2 ] [ 3 ] FTT is usually defined in terms of weight, and can be evaluated either by a low weight for the child's age, or by a low rate of increase in the weight.
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.
People with cystic fibrosis may experience salty skin, persistent coughing, lung infections such as pneumonia and bronchitis, and wheezing and shortness of breath. Cystic fibrosis can also cause poor weight gain and growth, nasal polyps, chronic sinus infections, clubbing or enlargement of fingers and toes, infertility in males, and rectal ...
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 ...
In cystic fibrosis, the CFTR chloride channel is defective, and does not allow chloride to be reabsorbed into sweat duct cells. Consequently, more sodium stays in the duct, and more chloride remains in the sweat. The concentration of chloride in sweat is therefore elevated in individuals with cystic fibrosis.
In general, the most common cause of this condition is a deficiency of vitamin B 12. This may be due to a dietary deficiency, malabsorption in the terminal ileum , lack of intrinsic factor secreted from gastric parietal cells, or low gastric pH inhibiting attachment of intrinsic factor to ileal receptors. [ 10 ]
CFRD occurs in some 20% of adolescents and 40–50% of adults affected by CF. [3] Though rare in children, it has been described in CF patients of all ages, including infants. Beginning in the teenage years, CFRD has an annual incidence of ~3%, and may be more common in females. It is associated with more severe CF gene mutation types. [4]
E.g., thiamine supplementation benefits several types of disorders that cause lactic acidosis. Intermediary metabolites, compounds, or drugs that facilitate or retard specific metabolic pathways; Dialysis; Enzyme replacement E.g. Acid-alpha glucosidase for Pompe disease; Gene therapy; Bone marrow or organ transplantation; Treatment of symptoms ...