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罕见的合并症:探索胆道闭锁、威尔逊病和铁过载之间的关联

Unusual Confluence: Exploring the Association of Biliary Atresia, Wilson Disease, and Iron Overload.

作者信息

Duggal Shivangini, Meza-Rodriguez Samantha, Shahid Saqib, Zuckerman Marc, Borges Jorge Chiquie

机构信息

Department of Internal Medicine, Texas Tech University Health Sciences Center, El Paso, TX.

Texas Tech University Health Sciences Center, El Paso, Paul L. Foster School of Medicine, El Paso, TX.

出版信息

ACG Case Rep J. 2024 Oct 18;11(10):e01500. doi: 10.14309/crj.0000000000001500. eCollection 2024 Oct.

Abstract

The case involves a 33-year-old man with biliary atresia, Wilson disease (WD), and iron overload. Biliary atresia, a cholangiodestructive disease, leads to cirrhosis if untreated. WD, caused by ATP7B gene mutations, results in copper accumulation affecting the liver and brain. Iron overload can be seen in cases of WD and with hereditary hemochromatosis gene mutations. The patient's concurrent presentation of these conditions poses a unique clinical challenge. Elevated iron levels may worsen WD outcomes. A detailed history and physical examination, genetic testing, and close follow-up are crucial. The case highlights the need for increased awareness and vigilant monitoring of patients with overlapping liver diseases.

摘要

该病例涉及一名33岁男性,患有胆道闭锁、威尔逊病(WD)和铁过载。胆道闭锁是一种胆管破坏性疾病,若不治疗会导致肝硬化。WD由ATP7B基因突变引起,会导致铜蓄积,影响肝脏和大脑。WD病例以及遗传性血色素沉着症基因突变病例中可见铁过载。该患者同时出现这些病症带来了独特的临床挑战。铁水平升高可能会使WD的病情恶化。详细的病史和体格检查、基因检测以及密切随访至关重要。该病例凸显了提高对重叠性肝病患者的认识并进行警惕监测的必要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/046a/11495795/0de6ae120b42/ac9-11-e01500-g001.jpg

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