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Chapter 28 - Copper Metabolism and Copper Storage Disorders in Children

from Section IV - Metabolic Liver Disease

Published online by Cambridge University Press:  19 January 2021

By
Ronald J. Sokol  and
Arnold Silverman
Edited by
Frederick J. Suchy ,
Ronald J. Sokol  and
William F. Balistreri
Edited in association with
Jorge A. Bezerra ,
Cara L. Mack  and
Benjamin L. Shneider
Frederick J. Suchy
Affiliation:
University of Colorado, Children’s Hospital Colorado, Aurora
Ronald J. Sokol
Affiliation:
University of Colorado, Children’s Hospital Colorado, Aurora
William F. Balistreri
Affiliation:
Cincinnati Children’s Hospital Medical Center, Cincinnati
Jorge A. Bezerra
Affiliation:
Cincinnati Children’s Hospital Medical Center, Cincinnati
Cara L. Mack
Affiliation:
University of Colorado, Children’s Hospital Colorado, Aurora
Benjamin L. Shneider
Affiliation:
Texas Children’s Hospital, Houston
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Summary

Excess copper in the liver is toxic in humans and other mammals, and may lead to acute or chronic hepatitis, steatohepatitis, acute liver failure, cirrhosis and death. Of the several human copper storage diseases that have been described, the molecular basis of only Wilson disease is understood with the discovery of the Wilson disease gene (ATP7B) in 1993. The therapeutic success using oral copper chelating agents and zinc therapy make Wilson disease one of the few treatable genetic metabolic liver diseases. In cases with a fulminant presentation or advanced disease at diagnosis, copper chelation is ineffective and liver transplantation may be lifesaving. Indian Childhood Cirrhosis (ICC) has been defined as a copper-storage disorder precipitated by increased copper intake which affects young children primarily of Indian descent, and which progresses to cirrhosis and death before age three to four years without treatment. Children from North America, Asia, Austria, Germany and other countries have been described with a similar condition, which has been termed idiopathic copper toxicosis (ICT). Several newer disorders of hepatic copper metabolism have been recently described.

Type
Chapter
Information
Liver Disease in Children , pp. 484 - 514
Publisher: Cambridge University Press
Print publication year: 2021

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References

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Websites of Interest

GeneReviews – Wilson Disease: www.ncbi.nlm.nih.gov/books/NBK1512/ [last accessed June 21, 2020].

Wilson Disease Association: www.wilsonsdisease.org/ [last accessed June 21, 2020].

National Organization for Rare Disorders: https://rarediseases.org/rare-diseases/wilson-disease/ [last accessed June 21, 2020].

Genetics and Rare Disease Information Center: https://rarediseases.info.nih.gov/diseases/7893/disease [last accessed June 21, 2020].

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