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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.
United States. Alex: The Life of a Child is a biography and film about the life and death of Alexandra Deford from cystic fibrosis. [1] After her death in 1980 at the age of eight, her father, Frank Deford, a sportswriter, was inspired to write a memoir about Alex three years later. The book depicts Alex's determination to make the best of her ...
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 is an inherited (genetic) disease that can present with symptoms within the first two years of life. The genetic defect results in the production of thick mucus in the lungs, pancreas, liver, small intestine, and reproductive organs.
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Shwachman–Diamond syndrome (SDS), or Shwachman–Bodian–Diamond syndrome, is a rare congenital disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, skeletal and cardiac abnormalities and short stature. After cystic fibrosis (CF), it is the second most common cause of exocrine pancreatic insufficiency in ...