A Novel Mutation in the ATP7B Gene: A Rare Manifestation of Wilson Disease With Liver Failure

被引：0

作者：

Awan, Rehmat Ullah ^{[1
]}

Rashid, Shazia ^{[2
]}

Nabeel, Ambreen ^{[1
]}

Gangwani, Manesh Kumar ^{[3
]}

Samant, Hrishikesh ^{[4
]}

机构：

[1] Ochsner Rush Hlth Syst, Dept Med, Meridian, MS 39301 USA

[2] Louisiana State Univ, Dept Gastroenterol & Hepatol, Shreveport, LA USA

[3] Univ Toledo, Dept Med, Med Ctr, Toledo, OH USA

[4] Ochsner Hlth Syst, Dept Gastroenterol & Hepatol, New Orleans, LA USA

来源：

ACG CASE REPORTS JOURNAL | 2023年 / 10卷 / 02期

关键词：

Wilson disease; acute liver failure; liver transplant; ATP7B gene mutation;

D O I：

10.14309/crj.0000000000000977

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

Wilson disease is a hereditary disorder which involves anomalous copper metabolism. Typically, the presentation is systemic, involving vital organs such as the liver, kidney, and brain, among others. We report a unique case presenting with solitary organ involvement as acute liver failure with novel ATP7B gene mutation, which has never been reported before.

引用

页数：3

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