不寻常的汇合：探索胆道闭锁、威尔逊氏病和铁超载的关联。

IF 0.6 Q4 GASTROENTEROLOGY & HEPATOLOGY

ACG Case Reports Journal Pub Date : 2024-10-18 eCollection Date: 2024-10-01 DOI:10.14309/crj.0000000000001500

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

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引用次数: 0

摘要

该病例涉及一名患有胆道闭锁、威尔逊病（WD）和铁超载的 33 岁男子。胆道闭锁是一种胆道破坏性疾病，如不及时治疗会导致肝硬化。WD是由ATP7B基因突变引起的，会导致铜蓄积，影响肝脏和大脑。在 WD 和遗传性血色素沉着病基因突变的病例中可以看到铁超载。患者同时出现这些病症会给临床带来独特的挑战。铁水平升高可能会加重 WD 的预后。详细的病史和体格检查、基因检测以及密切的随访至关重要。该病例强调了提高对重叠性肝病患者的认识和警惕性的必要性。

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

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.

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来源期刊

ACG Case Reports Journal GASTROENTEROLOGY & HEPATOLOGY-

自引率

14.30%

发文量

170

审稿时长

12 weeks

期刊介绍： ACG Case Reports Journal is a peer-reviewed, open-access publication that provides GI and hepatology fellows, private practice clinicians, and other healthcare providers an opportunity to share interesting case reports with their peers and with leaders in the field. ACG Case Reports Journal publishes case reports, images, videos and letters to the editor in all topics of gastroenterology and hepatology, including: Biliary Colon Endoscopy Esophagus Functional Bowel Disorders Inflammatory Bowel Disease Liver Nutrition and Obesity Pancreas Pathology Pediatric Small Bowel Stomach.