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Wilson disease and idiopathic copper toxicosis
1National Center for the Study of Wilson's Disease, St Luke's-Roosevelt Hospital Center, Columbia University, New York, USA.
The American Journal of Clinical Nutrition
|May 1, 1996
Summary
Idiopathic copper toxicosis (ICT) is not solely caused by high dietary copper intake. Genetic defects are essential for developing ICT, even with low copper exposure in infants.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Wilson disease (WD) and idiopathic copper toxicosis (ICT) involve excessive liver copper accumulation.
- WD is caused by an autosomal recessive gene on chromosome 13, independent of diet.
- ICT has been primarily linked to increased dietary copper intake in children.
Purpose of the Study:
- To investigate the role of dietary copper intake versus genetic factors in idiopathic copper toxicosis (ICT).
- To determine if elevated dietary copper alone can cause lethal copper accumulation leading to liver disease in children.
Main Methods:
- Analysis of epidemiological data on children exposed to drinking water with high copper concentrations.
- Clinical assessment of infants with ICT, including genetic defect evaluation and dietary history (breastfeeding).
Main Results:
- Extensive exposure (64,124 child-years) to drinking water with ~125.9 micromol/L copper did not result in liver disease deaths.
- ICT in seven infants was linked to drinking water with <110.2 micromol Cu/L, with three patients showing genetic defects.
- One ICT infant was exclusively breast-fed, indicating dietary copper was not the primary cause.
Conclusions:
- Increased dietary copper intake alone is insufficient to cause idiopathic copper toxicosis (ICT).
- A genetic defect is a necessary factor for the development of ICT in children.
- ICT pathogenesis involves a complex interplay of genetic predisposition and copper exposure.
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