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Harrison's Principles of Internal Medicine, 18e
| Part 16. Endocrinology and Metabolism > Section 3. Disorders of Intermediary Metabolism > |
Chapter 360. Wilson's Disease
Sections: Wilson's Disease: Introduction, Global Considerations, Further Readings.
Topics Discussed: hepatolenticular degeneration.
Excerpt:"Wilson's disease is an autosomal recessive disorder caused by mutations in the ATP7B gene, a membrane-bound, copper-transporting ATPase. Clinical manifestations are caused by copper toxicity and primarily involve the liver and the brain. Because effective treatment is available, it is important to make this diagnosis early.ATP7B protein deficiency impairs biliary copper excretion, resulting in positive copper balance, hepatic copper accumulation, and copper toxicity from oxidant damage. Excess hepatic copper is initially bound to metallothionein, but as this storage capacity is exceeded, liver damage begins as early as three years of age. Defective copper incorporation into apoceruloplasmin leads to excess catabolism and low blood levels of ceruloplasmin. Serum copper levels are usually lower than normal because of low blood ceruloplasmin, which normally binds >90% of serum copper. As the disease progresses, nonceruloplasmin serum copper ("free" copper) levels increase, resulting in copper buildup in other parts of the body, such as the brain, leading to neurologic and psychiatric disease.Wilson's disease may present as hepatitis, cirrhosis, or as hepatic decompensation, typically in the mid to late teenage years in western..."
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