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Difference between revisions of "Medical liver disease"
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→Hereditary hemochromatosis
m (→General) |
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**One mutation (C282Y mutation) in up to 12.5% of people in populations of northern and central European origin.<ref name=pmid18192769>{{cite journal |author=Weinberg ED |title=Survival advantage of the hemochromatosis C282Y mutation |journal=Perspect. Biol. Med. |volume=51 |issue=1 |pages=98-102 |year=2008 |pmid=18192769 |doi=10.1353/pbm.2008.0001 |url=}}</ref> | **One mutation (C282Y mutation) in up to 12.5% of people in populations of northern and central European origin.<ref name=pmid18192769>{{cite journal |author=Weinberg ED |title=Survival advantage of the hemochromatosis C282Y mutation |journal=Perspect. Biol. Med. |volume=51 |issue=1 |pages=98-102 |year=2008 |pmid=18192769 |doi=10.1353/pbm.2008.0001 |url=}}</ref> | ||
*Onset in males earlier than females (due to menses). | *Onset in males earlier than females (due to menses). | ||
*Mutation thought to confer survival advantage - several theories (increased resistance to [[TB]], S. typhi vs. | *Mutation thought to confer survival advantage - several theories (increased resistance to [[TB]], S. typhi vs. decreased iron deficiency/increased iron absorption).<ref name=pmid18192769/> | ||
Associated pathology: | Associated pathology: | ||
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Pathophysiology: | Pathophysiology: | ||
*Iron overload | *Iron overload -> [[cirrhosis]]. | ||
===Microscopic=== | ===Microscopic=== | ||
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*Periportal iron deposition (early). | *Periportal iron deposition (early). | ||
**Late stage disease has diffuse iron deposition. | **Late stage disease has diffuse iron deposition. | ||
*Brown granular | *Brown granular - may vaguely look like [[lipofuscin]] on [[H&E]]. | ||
Notes: | Notes: | ||