吉尔伯特综合症:好的,坏的和丑陋的。

IF 2.5 Q2 GASTROENTEROLOGY & HEPATOLOGY
Arjuna Priyadarsin De Silva, Nilushi Nuwanshika, Madunil Anuk Niriella, Hithanadura Janaka de Silva
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引用次数: 0

摘要

吉尔伯特综合征(GS)是一种常见的遗传性疾病,其特征是由于胆红素代谢的遗传缺陷导致血清胆红素水平轻度升高。本综述基于1977年至2024年1月通过PubMed平台获得的同行评议文章,概述了关于GS的当前知识。早期的研究主要集中在确定该综合征的临床和遗传特征。最近的研究深入探讨了胆红素udp -葡萄糖醛酸糖基转移酶表达降低的遗传机制,大大提高了我们对GS发病机制的理解。最近的研究还调查了GS的临床意义,包括其与代谢性脂肪变性肝病、心血管疾病、心理健康和死亡风险的关系,强调了遗传因素、胆红素代谢和临床结果之间复杂的相互作用。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Gilbert's syndrome: The good, the bad and the ugly.

Gilbert's syndrome (GS) is a common hereditary condition characterized by mild increases in serum bilirubin levels due to inherited defects in bilirubin metabolism. This review, based on peer-reviewed articles spanning from 1977 to January 2024 and sourced through the PubMed platform, provides an overview of current knowledge regarding GS. Early studies primarily focused on defining the clinical and genetic characteristics of the syndrome. More recent research has delved into the genetic mechanisms underlying the reduced expression of bilirubin UDP-glucuronosyltransferase, significantly enhancing our understanding of the pathogenesis of GS. Recent studies have also investigated clinical implications of GS, including its association with metabolic associated steatotic liver disease, cardiovascular disease, mental health and mortality risk, highlighting the complex interplay between genetic factors, bilirubin metabolism, and clinical outcomes.

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来源期刊
World Journal of Hepatology
World Journal of Hepatology GASTROENTEROLOGY & HEPATOLOGY-
CiteScore
4.10
自引率
4.20%
发文量
172
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