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Cystic Fibrosis - Research Paper Example

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Cystic Fibrosis

nifestation of the disease in the form of pancreatic malabsorption considered to be due to pancreatic abnormalities with evidence from histological changes at autopsy was reported (Parmalee, 1418-1428; Hess and Sapphire, 1-13). Another important clinical feature included severe respiratory problems in affected children. Other significant report of pancreatic changes with features compatible to that of cystic fibrosis came from Margaret Harper of Sydney who reported congenital steatorrhea due to pancreatic defect (Harper, 45-56). However the recognition for describing cystic fibrosis as a separate clinical entity goes to Dr Dorothy Andersen who described neonatal intestinal obstruction, respiratory complications and characteristic pancreatic histology in her 1938 report (Andersen, 344-399). She called it the ‘fibrocystic disease of the pancreases. In the forties it was recognized as a generalized disorder affecting organs other than the pancreas and Dr Sydney Farber who coined the term ‘mucoviscidosis’ for the condition accurately summarized the secondary consequences of Cystic fibrosis to cause clogging of respiratory tract by thick mucus, secondary Staphylococcal infection and failure of proper lubrication of ciliated epithelium (Farber, 827-833).
The first suggestion of cystic fibrosis being an inherited disorder came from Philip Howard who reviewed familial occurrence of the fibrocystic disease of the pancreas (Howard, 330-332). However the first clear report that identified cystic fibrosis to be inherited as a recessive Mendelian trait came from Andersen and Hodges in 1946. They investigated 56 families from literature and 47 of their own families to come to the conclusion that the incidence of the disorder follows the Mendelian recessive inheritance which approximated the incidence in siblings as 25% as expected of a Mendelian recessive condition which required more than one factor for expression (Andersen and Hodges, 62-80).
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Existence of cystic fibrosis has been known for a very long time from stories of old cleaning ceremonies where foreheads of children were licked to see if they were salty and if they were those children were feared to die soon due to the disease which we today call cystic…
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Cystic Fibrosis essay example
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