肝细胞变性的分类和临床异质性

E. V. Ovchinnikova, E. Vaiman, N. A. Shnayder, A. A. Ovchinnikova, R. Nasyrova
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摘要

肝细胞变性(HLD)或威尔逊-科诺瓦洛夫病(OMIM277900)是一种遗传性单基因常染色体隐性变性疾病,与代谢病(一类贮存病)有关。对 HLD 的研究已有 130 多年的历史。在此期间,对这种疾病提出了更多的分类方法。在这篇综述中,我们对所有已提出的 HLD 分类进行了系统梳理。我们注意到,它们都基于以下标准:1) 疾病的临床表现;2) 随着病理进展出现临床表现的顺序(首先出现肝脏或脑损伤的表现);3) 疾病的严重程度。本综述还对有关 HLD 临床表现的数据进行了系统整理。
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Classification and Clinical Heterogeneity of Hepatolenticular Degeneration
Hepatolenticular degeneration (HLD) or Wilson-Konovalov disease (OMIM277900) is a hereditary monogenic autosomal recessive degenerative disease related to metabolic diseases - a category of storage diseases. HLD has been studied for more than 130 years. During this time, more classifications of this disease were proposed. In this review, we systematized all the proposed classifications of HLD. And we noticed, they are based on the following criteria: 1) clinical signs of the disease; 2) the sequence of their appearance as the pathology progresses (with the primary appearance of signs of liver or brain damage); 3) severity of the disease. This review also systematizes data on the clinical picture of HLD.
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