Suppr超能文献

威尔逊病:酒精性肝病患者的诊断难题

Wilson disease: a diagnostic challenge in a patient with alcoholic liver disease.

作者信息

Patel Roshni

机构信息

Internal Medicine, UT Southwestern Medical Center, Dallas, Texas, USA

出版信息

BMJ Case Rep. 2019 Oct 25;12(10):e232449. doi: 10.1136/bcr-2019-232449.

Abstract

A 32-year-old man with alcoholic cirrhosis presented with worsening abdominal distension and jaundice. He was diagnosed with cirrhosis 2 years prior after a hospitalisation for acute liver failure, during which viral, autoimmune and metabolic workup was unrevealing. Heavy alcohol consumption was his only obvious risk factor for liver disease, so his decompensation was attributed to alcohol. At the present time, he was admitted with acute-on-chronic liver failure and acute renal failure. The severity of his presentation and the disproportionately mild elevation in alkaline phosphatase relative to his hyperbilirubinaemia prompted repeating a ceruloplasmin level, which, though previously normal, was now low, and eventually led to a diagnosis of Wilson disease (WD) with concomitant alcoholic liver disease. Clinicians must recognise limitations in ceruloplasmin and copper levels when screening for WD and maintain suspicion for WD in young patients, even if there is an already established aetiology of liver disease.

摘要

一名32岁的酒精性肝硬化男性患者,出现腹胀和黄疸加重。他在因急性肝衰竭住院2年后被诊断为肝硬化,在此期间,病毒、自身免疫和代谢检查均未发现异常。大量饮酒是他唯一明显的肝病危险因素,因此他的失代偿归因于酒精。目前,他因慢加急性肝衰竭和急性肾衰竭入院。他临床表现的严重程度以及碱性磷酸酶相对于高胆红素血症的轻度升高,促使再次检测铜蓝蛋白水平,该水平虽之前正常,但现在降低,最终诊断为威尔逊病(WD)合并酒精性肝病。临床医生在筛查WD时必须认识到铜蓝蛋白和铜水平的局限性,对于年轻患者即使已有明确的肝病病因,也应保持对WD的怀疑。

相似文献

1
Wilson disease: a diagnostic challenge in a patient with alcoholic liver disease.
BMJ Case Rep. 2019 Oct 25;12(10):e232449. doi: 10.1136/bcr-2019-232449.
2
You Only Find What You Are Looking for: Concurrent Alcoholic Liver Cirrhosis and Undiagnosed Wilson's Disease.
Cureus. 2021 Aug 12;13(8):e17117. doi: 10.7759/cureus.17117. eCollection 2021 Aug.
4
[The diagnostic value and limits of diagnostic parameters for Wilson's disease].
Zhonghua Gan Zang Bing Za Zhi. 2017 Dec 20;25(12):881-885. doi: 10.3760/cma.j.issn.1007-3418.2017.12.001.
5
Wilson's disease: A 2017 update.
Clin Res Hepatol Gastroenterol. 2018 Dec;42(6):512-520. doi: 10.1016/j.clinre.2018.03.007. Epub 2018 Apr 4.
6
Wilson disease: what is still unclear in pediatric patients?
Clin Res Hepatol Gastroenterol. 2014 Jun;38(3):268-72. doi: 10.1016/j.clinre.2014.03.002. Epub 2014 Apr 16.
7
A novel ATP7B gene mutation in a liver failure patient with normal ceruloplasmin and low serum alkaline phosphatase.
Gene. 2014 Mar 15;538(1):204-6. doi: 10.1016/j.gene.2013.10.044. Epub 2013 Oct 27.
8
[Rare, but important chronic liver diseases].
Praxis (Bern 1994). 2002 Nov 27;91(48):2077-85. doi: 10.1024/0369-8394.91.48.2077.
9
Childhood Wilson Disease: Bangladesh Perspective.
Mymensingh Med J. 2017 Apr;26(2):406-413.
10
Studies of mass infant screening for Wilson disease by urinary ceruloplasmin.
Southeast Asian J Trop Med Public Health. 1999;30 Suppl 2:149-50.

引用本文的文献

1
Wilson Disease: Uncommon but Not to Be Forgotten.
Cureus. 2023 May 19;15(5):e39247. doi: 10.7759/cureus.39247. eCollection 2023 May.
3
You Only Find What You Are Looking for: Concurrent Alcoholic Liver Cirrhosis and Undiagnosed Wilson's Disease.
Cureus. 2021 Aug 12;13(8):e17117. doi: 10.7759/cureus.17117. eCollection 2021 Aug.

本文引用的文献

1
Insights into the management of Wilson's disease.
Therap Adv Gastroenterol. 2017 Nov;10(11):889-905. doi: 10.1177/1756283X17731520. Epub 2017 Oct 3.
2
Update on the clinical management of Wilson's disease.
Appl Clin Genet. 2017 Jan 13;10:9-19. doi: 10.2147/TACG.S79121. eCollection 2017.
3
Simultaneous Presentation of Wilson's Disease and Autoimmune Hepatitis; A Case Report and Review of Literature.
Hepat Mon. 2015 Jun 23;15(6):e29043. doi: 10.5812/hepatmon.29043. eCollection 2015 Jun.
5
Wilson disease.
Best Pract Res Clin Gastroenterol. 2010 Oct;24(5):531-9. doi: 10.1016/j.bpg.2010.07.014.
7
Diagnosis and treatment of Wilson disease: an update.
Hepatology. 2008 Jun;47(6):2089-111. doi: 10.1002/hep.22261.
8
Predicting utility of a model for end stage liver disease in alcoholic liver disease.
World J Gastroenterol. 2006 Jul 7;12(25):4020-5. doi: 10.3748/wjg.v12.i25.4020.
9
Liver enzyme alteration: a guide for clinicians.
CMAJ. 2005 Feb 1;172(3):367-79. doi: 10.1503/cmaj.1040752.
10
Renal function in Wilson's disease.
J Clin Invest. 1957 Jul;36(7):1107-14. doi: 10.1172/JCI103506.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验