Expanding Contributions of Monogenic Very Early Onset Inflammatory Bowel Disease.
Expanding Contributions of Monogenic Very Early Onset Inflammatory Bowel Disease.
复制标题
单基因极早发炎症性肠病的影响不断扩大。
DOI：
10.1093/ibd/izab145
复制
发表时间：
2021
影响因子：
4.9
通讯作者：
Ouahed,Jodie
中科院分区：
文献类型：
--
作者：
Ouahed,Jodie
目前已鉴定出 70 多个已知导致极早发炎症性肠病 (VEOIBD) 的基因。在本期《炎症性肠病》中，重点介绍了 2 篇描述 VEIOBD 单基因形式的文章。其中一篇文章描述了一位患有危及生命的 VEIOBD 和 ITGA6 突变的患者，说明了上皮屏障在维持粘膜稳态中的重要性。另一篇描述了 10 名 VEIOBD 患者的表现和治疗，该患者因 MVK 破坏性突变继发，导致甲羟戊酸激酶缺乏。尽管大多数 VEIOBD 的单基因原因仍然是“私人的”，但了解 VEIOBD 儿童受影响的不同类别的途径至关重要，并且已经为 VEIOBD 患者的管理带来了宝贵的见解，并且可能对 IBD 的整体护理产生重大影响。
Currently over 70 genes known to be causative in very early onset inflammatory bowel disease (VEOIBD) have been identified. In the current issue ofInflammatory Bowel Diseases, 2 articles describing monogenetic forms of VEOIBD are highlighted. One describes a patient with life-threatening VEOIBD and a mutation inITGA6, illustrating the importance of the epithelial barrier in maintaining mucosal homeostasis. The other describes the presentation and management of 10 patients with VEOIBD secondary to damaging mutations inMVK, resulting in mevalonate kinase deficiency. Though most monogenic causes of VEOIBD remain “private,” understanding the different categories of pathways affected in children with VEOIBD is critical and has already resulted in invaluable insight in the management of patients with VEOIBD and may hold strong implications for the care of IBD overall.