婴幼儿胆汁淤积症的治疗。

Q1 Medicine Current Gastroenterology Reports Pub Date : 2023-11-01 Epub Date: 2023-08-31 DOI:10.1007/s11894-023-00891-8
Nicole Heinz, Jennifer Vittorio
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引用次数: 0

摘要

回顾目的:胆汁淤积症的特征是继发于胆汁合成、转运或肝脏排泄受损的共轭高胆红素血症。它总是病理性的,可以指示潜在的肝胆、遗传或代谢紊乱,其中一些需要及时诊断,以确保适当的管理和最佳的结果。本文综述了对胆汁淤积症的评价,重点介绍了当前和新兴的治疗策略。最近的发现:下一代测序(NGS)的可及性的提高允许在诊断过程的早期利用基因检测。这可能会改变诊断胆汁淤积性疾病的临床算法。加强对潜在病理生理学的理解可能有助于指导未来靶向治疗的发展,如回肠胆汁酸转运体(IBAT)抑制剂。这些药物最近被批准用于治疗阿拉格尔综合征和进行性家族性肝内胆汁淤积症患者的胆汁淤积性瘙痒。目前对胆汁淤积的管理主要针对胆汁流动受损的生化后果,包括营养不良、瘙痒和进行性纤维化。NGS增强了对胆道病理的理解,并可能指导基于特定基因突变的未来治疗方式的发展。随着新的治疗方式的出现,快速识别潜在的病因是至关重要的。
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Treatment of Cholestasis in Infants and Young Children.

Purpose of review: Cholestasis is characterized by a conjugated hyperbilirubinemia secondary to impaired bile synthesis, transport, or excretion from the liver. It is always pathologic and can be indicative of an underlying hepatobiliary, genetic, or metabolic disorder, several of which require timely diagnosis to ensure proper management and optimal outcomes. This review provides an overview of the evaluation of cholestasis with a focus on current and emerging treatment strategies.

Recent findings: Increased accessibility of next generation sequencing (NGS) allows for utilization of genetic testing early in the diagnostic process. This may alter the clinical algorithm for diagnosis of cholestatic disorders. An enhanced understanding of the underlying pathophysiology may help guide future development of targeted therapies, such as ileal bile acid transporter (IBAT) inhibitors. These were recently approved for treatment of cholestatic pruritus in patients with Alagille syndrome and Progressive Familial Intrahepatic Cholestasis. Current management of cholestasis is aimed at the biochemical consequences of impaired bile flow, including malnutrition, pruritus, and progressive fibrosis. NGS has led to an enhanced understanding of biliary pathology and may guide development of future treatment modalities based on specific gene mutations. Rapid discernment of the underlying etiology is essential as new treatment modalities emerge.

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来源期刊
Current Gastroenterology Reports
Current Gastroenterology Reports Medicine-Gastroenterology
CiteScore
7.80
自引率
0.00%
发文量
19
期刊介绍: As the field of gastroenterology and hepatology rapidly evolves, the wealth of published literature can be overwhelming. The aim of the journal is to help readers stay abreast of such advances by offering authoritative, systematic reviews by leading experts. We accomplish this aim by appointing Section Editors who invite international experts to contribute review articles that highlight recent developments and important papers published in the past year. Major topics in gastroenterology are covered, including pediatric gastroenterology, neuromuscular disorders, infections, nutrition, and inflammatory bowel disease. These reviews provide clear, insightful summaries of expert perspectives relevant to clinical practice. An Editorial Board of internationally diverse members suggests topics of special interest to their country/region and ensures that topics are current and include emerging research. We also provide commentaries from well-known figures in the field.
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