Wilson disease and the differential diagnosis of its hepatic manifestations: a narrative review of clinical, laboratory, and liver histological features.
Wilson disease and the differential diagnosis of its hepatic manifestations: a narrative review of clinical, laboratory, and liver histological features.
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DOI：
10.21037/atm-21-2264
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发表时间：
2021-09
影响因子：
--
通讯作者：
Medici V
中科院分区：
文献类型：
--
作者：
Schroeder SM;Matsukuma KE;Medici V
目前工作的目的是提供威尔逊病的鉴别诊断的概述。威尔逊病是一种罕见的疾病，主要是由于铜积聚在肝脏和大脑。虽然没有明确的治愈方法，但如果早期开始并及时诊断，目前的抗铜治疗与更好的结果相关。然而，诊断延迟是常见的，Wilson病通常是诊断上的挑战。诊断最终依赖于临床、实验室和遗传结果的结合，临床医生在鉴别诊断中列出Wilson病是至关重要的，特别是在肝细胞型肝损伤患者中。肝豆状核变性的一些生化和肝脏组织学特征与非酒精性脂肪性肝病、酒精相关性肝病和自身免疫性肝炎等更常见的疾病重叠。特别是肝脂肪变性、肝细胞糖原核、球囊变性和Mallory-Denk小体常见于肝豆状核病以及更常见的肝脏疾病。此外，肝豆状核变性患者肝损伤的自然史和发生肝癌的风险在很大程度上还没有得到充分的研究。我们对肝豆状核变性的已发表论文进行了扩大的综述，重点关注其诊断和与常见非胆汁淤积性肝病相关的独特临床和肝脏病理特征，最终目的是帮助临床医生诊断这种罕见但可治疗的疾病。除了铜代谢明显改变外，肝豆状核病基本上没有任何病理特征可以将其与更常见的肝脏疾病区分开来。临床医生应该意识到这一挑战，并在肝细胞型肝损伤患者中考虑肝豆状核变性。
The goal of the present work is to provide an overview of the differential diagnosis of Wilson disease. Wilson disease is a rare condition due to copper accumulation primarily in the liver and brain. Although there is no definitive cure, current anti-copper treatments are associated with better outcomes if initiated early and if the diagnosis is made promptly. However, diagnostic delays are frequent and often Wilson disease represents a diagnostic challenge. The diagnosis ultimately relies on a combination of clinical, laboratory and genetic findings, and it is crucial that clinicians list Wilson disease in their differential diagnosis, especially in patients presenting with a hepatocellular pattern of liver injury. Some biochemical and liver histological features of Wilson disease overlap with those of more common conditions including nonalcoholic fatty liver disease, alcohol-associated liver disease, and autoimmune hepatitis. In particular, hepatic steatosis, hepatocyte glycogenated nuclei, ballooning degeneration, and Mallory-Denk bodies are often identified in Wilson disease as well as more common liver diseases. In addition, the natural history of liver damage in Wilson disease and the risk of developing liver cancer are largely understudied. We conducted an enlarged review of published papers on Wilson disease focusing on its diagnosis and distinctive clinical and liver pathology features in relation to common non-cholestatic liver diseases with the final goal in aiding clinicians in the diagnostic process of this rare but treatable condition. Aside from markedly altered copper metabolism, Wilson disease has essentially no pathognomonic features that can distinguish it from more common liver diseases. Clinicians should be aware of this challenge and consider Wilson disease in patients presenting with a hepatocellular pattern of liver injury.
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影响因子：
30.8
作者：
BULL, PC;THOMAS, GR;COX, DW
通讯作者：
COX, DW
DOI：
10.1016/s0022-2143(03)00157-4
发表时间：
2003-12-01
期刊：
JOURNAL OF LABORATORY AND CLINICAL MEDICINE
影响因子：
--
作者：
Askari, FK;Greenson, J;Brewer, GJ
通讯作者：
Brewer, GJ
DOI：
10.1002/lt.25703
发表时间：
2020-03
期刊：
Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society
影响因子：
--
作者：
通讯作者：
--
影响因子：
4.1
作者：
Devarbhavi, Harshad;Singh, Rajvir;Patil, Mallikarjun
通讯作者：
Patil, Mallikarjun
影响因子：
13.5
作者：
DACOSTA, CM;BALDWIN, D;MIELIVERGANI, G
通讯作者：
MIELIVERGANI, G