Thursday 7 February 2013

Cystic Fibrosis

Cystic Fibrosis
Cystic Fibrosis ( cf or mucoviscidosis is a recessive allele genetic disorder that affects about critically the lungs, and also the pancreas, liver, and intestine. It is guessed that CF appeared about 3,000 BC because of migration of people, gene variants, and changes in diet. CF was non medically recognized until the 1930s, certain characteristics of CF were recognized earlier. Texts from Germany and Switzerland in the 19th century warned Wehe dem Kind, das beim Kuß auf die Stirn salzig schmekt, er ist verhext und mickle bald sterbe or Woe to the child who tastes salty from a kiss on the brow, for he is cursed and soon mustiness die, recognizing the association between the salt loss in CF and illness (PubMed Health.) In 1938 Dorothy Hansine Andersen published an article, Cystic Fibrosis of the Pancreas and Its Relation to coeliac Disease: a Clinical and Pathological Study, in the American Journal of Diseases of Children. She was the first to describe the characteristic cystic fibrosis of the pancreas and to assign it with the lung and intestinal disease in CF.
CF is caused by a mutation in the gene cystic fibrosis transmembrane conductance regulator (CFTR). The most common mutation is a deletion of three nucleotides that results in a loss of the amino acid phenylalanine in the protein.

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This mutation accounts for two-thirds of CF cases worldwide and 90% of cases in the United States; however, thither are over 1,500 other mutations that can produce CF. Although most people have two working copies of the CFTR gene, only when one is needed to prevent cystic fibrosis. CF develops when uncomplete copy can produce a working CFTR protein. most(prenominal) of the damage in CF is due to blockage of the contract passages of affected organs with thickened secretions. These blockages lead to alteration and contagious disease in the lung, damage by accumulated digestive enzymes in the pancreas, blockage of the intestines by thick mucus.
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