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Wilson's Disease is also an autosomal recessive disorder that results in the accumulation of toxic levels of copper. Like hemochromatosis, the gene defect has been localized but the exact nature of the genetic defect is unknown. In this disorder, copper absorption and transport to the liver are normal; however, the copper does not get back into the circulation as ceruloplasmin and copper excretion into bile is severely impaired. The accumulation of copper leads primarily to liver, brain and eye damage. The liver develops fatty change and nuclear vacuolization in the setting of acute or chronic hepatitis which later progresses to cirrhosis. Neurologic manifestations include toxic neuronal injury primarily in the basal ganglia. Accumulation of copper in the cornea results in the formation of Kayser-Fleischer rings.</spoiler>
== Additional Resources ==
=== Reference ===
* [http://emedicine.medscape.com/article/177216-overview eMedicine Medical Library: Hemochromatosis]
* [http://www.merckmanuals.com/professional/hematology_and_oncology/iron_overload/overview_of_iron_overload.html Merck Manual: Iron Overload: Hemosiderosis and Hemochromatosis]
=== Journal Articles ===
* Ayonrinde OT, Milward EA, Chua AC, Trinder D, Olynyk JK. [http://www.ncbi.nlm.nih.gov/pubmed/18712630 Clinical perspectives on hereditary hemochromatosis]. ''Crit Rev Clin Lab Sci'' 2008;45(5):451-84.
* Bassett ML. [http://www.ncbi.nlm.nih.gov/pubmed/11456037 Haemochromatosis: iron still matters]. ''Intern Med J'' 2001 May-Jun;31(4):237-42.
=== Images ===
* [http://peir.path.uab.edu/library/index.php?/tags/177-hemochromatosis PEIR Digital Library: Hemochromatosis]
* [http://library.med.utah.edu/WebPath/LIVEHTML/LIVERIDX.html#3 WebPath: Hepatic Pigmentary Disorders]
* [http://library.med.utah.edu/WebPath/CINJHTML/CINJIDX.html#5 WebPath: Cellular Accumulations]
== Related IPLab Cases ==
* [[IPLab:Lab 13:Biliary Atresia|Lab 13: Liver: Biliary Atresia]]
{{IPLab 5}}
[[Category: IPLab:Lab 5]]