Very early-onset inflammatory bowel disease: an integrated approach.
Very early-onset inflammatory bowel disease: an integrated approach.
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DOI：
10.1097/aci.0000000000000484
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发表时间：
2018-12
影响因子：
2.8
通讯作者：
中科院分区：
文献类型：
--
作者：
免疫失调是与生俱来的免疫错误中增长最快的一组。一个特殊的亚组是早发性炎症性肠病是最常见的表现。这些疾病正日益受到重视，尽管在阐明其诊断和管理的统一方法方面所做的努力微乎其微。这篇综述将涵盖与诊断和治疗极早起病的炎症性肠病相关的当前思维和策略。导致早发性炎症性肠病的单基因病因越来越多。在许多情况下，精确的遗传原因决定了管理。从这些单基因疾病的治疗中吸取的经验教训有时可以外推到其他难治的炎症性肠病病例。一种综合的诊断、风险分析和管理方法可以包括传统炎症性肠病不经常使用的诊断方法，如整个外显子组测序。管理还可以包括非传统方法，如靶向生物制剂或造血细胞移植。
Immune dysregulation disorders are among the most rapidly growing set of inborn errors of immunity. One particular subset is the category where early-onset inflammatory bowel disease is the most common manifestation. These disorders are being increasingly appreciated although there has been minimal effort to articulate a unified approach to their diagnosis and management. This review will cover current thinking and strategies related to diagnosis and management of very early-onset inflammatory bowel disease. There is an expanding set of monogenic causes of early-onset inflammatory bowel disease. In many cases, the precise genetic cause dictates management. Lessons learned from the management of these monogenic conditions can sometimes be extrapolated to other refractory cases of inflammatory bowel disease. An integrated approach to diagnosis, risk analysis and management can include diagnostic approaches not often utilized for traditional inflammatory bowel disease such as whole exome sequencing. Management can also include non-traditional approaches such as targeted biologics or hematopoietic cell transplantation.