Hepatic Copper Overload and Features of Indian Childhood Cirrhosis in an American Sibship

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Abstract
We studied the clinical histories of four white American siblings who died at 4 1/2 to six years of age of an unknown form of cirrhosis, in an effort to identify the etiologic factors in this familial syndrome. The family history disclosed no Indian heritage or parental consanguinity. The children were born and raised in New Jersey. Each had been well until progressive lethargy, abdominal swelling, jaundice, and fever developed four to seven months before death. The liver histopathology in each case closely resembled that of Indian childhood cirrhosis and included severe panlobular liver-cell swelling with Mallory body formation, prominent pericellular fibrosis, "micro-micronodular" cirrhosis, and marked deposits of copper and copper-binding protein. Hepatic copper levels were as high as 2083 μg per gram of tissue (normal, <50 μg).