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. 2011 Sep;1(2):115-7.
doi: 10.1016/S0973-6883(11)60131-X. Epub 2011 Nov 9.

ABCB4 Disease Presenting with Cirrhosis and Copper Overload-Potential Confusion with Wilson Disease

Benjamin L Shneider  1
Affiliations

ABCB4 Disease Presenting with Cirrhosis and Copper Overload-Potential Confusion with Wilson Disease

Benjamin L Shneider. J Clin Exp Hepatol. 2011 Sep.

Abstract

A 2-year-old female with cirrhosis was found to have a liver copper of 248 μg/g dry weight. She was eventually diagnosed with ABCB4 disease on the basis of heterozygote A546D and R176W mutations. Her liver disease was partially responsive to ursodeoxycholic acid therapy. Copper overload occurs in cholestatic liver disease and this must be considered to avoid misdiagnosis of Wilson disease.

Keywords: Bile; SIFT, sorting intolerant from tolerant; cholestasis; pediatric; phospholipid.

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