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Posted On : 14 Oct 2005

What is the pathological difference in Wilson's disease,Menky's kinky hair disease and ICC ?

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Answer Discussion :

pediatriconcall

Menke's disease is a sex-linked recessive cerebral degenerative disorder. Menke's is due to a defect in placental-intestinal copper transportation linked to a deficiency in copper dependent enzyme. The defect is primarily due to copper malabsorption from the gut. Labs usually show low serum copper and ceruloplasmin levels. There are also low liver copper concentrations. Copper histidinate appears to prevent the progressive neurodegeneration.

Wilson's disease, also called hepatolenticular degeneration, is a rare autossomal recessive inherited disease. It is primarly caused by an acumulation of copper in tissues all over the body, mainly in the liver, brain, kidneys and cornea. Penicillamine is the drug of choice. The pathogenic agent of both Wilson disease and Indian childhood cirrhosis is copper accumulating to excess in the liver. Inheritance of a pair of alleles of an autosomal recessive gene on chromosome 13 is necessary and sufficient to cause such copper accumulation in Wilson disease, reducing the dietary intake of copper cannot prevent the development of Wilson disease. In contrast, the lethal accumulations of copper in children with ICC have been attributed primarily to an increased dietary intake of copper.

19 years ago

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