Levine Anne E, Mark Dominique, Smith Laila, Zheng Hengqi B, Suskind David L
Division of Gastroenterology, Seattle Children's Hospital, Seattle, WA 98105, USA.
Department of Pediatrics, University of Washington School of Medicine, Seattle, WA 98195, USA.
Pharmaceutics. 2023 Mar 17;15(3):969. doi: 10.3390/pharmaceutics15030969.
Inflammatory bowel disease (IBD) is treated with a variety of immunomodulating and immunosuppressive therapies; however, for the majority of cases, these therapies are not targeted for specific disease phenotypes. Monogenic IBD with causative genetic defect is the exception and represents a disease cohort where precision therapeutics can be applied. With the advent of rapid genetic sequencing platforms, these monogenic immunodeficiencies that cause inflammatory bowel disease are increasingly being identified. This subpopulation of IBD called very early onset inflammatory bowel disease (VEO-IBD) is defined by an age of onset of less than six years of age. Twenty percent of VEO-IBDs have an identifiable monogenic defect. The culprit genes are often involved in pro-inflammatory immune pathways, which represent potential avenues for targeted pharmacologic treatments. This review will provide an overview of the current state of disease-specific targeted therapies, as well as empiric treatment for undifferentiated causes of VEO-IBD.
炎症性肠病（IBD）采用多种免疫调节和免疫抑制疗法进行治疗；然而，对于大多数病例而言，这些疗法并非针对特定的疾病表型。具有致病性基因缺陷的单基因IBD是个例外，它代表了一个可应用精准治疗的疾病队列。随着快速基因测序平台的出现，这些导致炎症性肠病的单基因免疫缺陷越来越多地被识别出来。这种被称为极早发型炎症性肠病（VEO-IBD）的IBD亚群定义为发病年龄小于6岁。20%的VEO-IBD有可识别的单基因缺陷。致病基因通常参与促炎免疫途径，这代表了靶向药物治疗的潜在途径。本综述将概述疾病特异性靶向治疗的现状，以及VEO-IBD未分化病因的经验性治疗。
