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首页> 美国卫生研究院文献>Gastroenterology Research >IL-10 and IL-10 Receptor Mutations in Very Early Onset Inflammatory Bowel Disease
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IL-10 and IL-10 Receptor Mutations in Very Early Onset Inflammatory Bowel Disease

机译：IL-10和IL-10受体突变在很早发病的炎症性肠病中

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Very early onset inflammatory bowel disease (VEO-IBD) is a unique disease entity with a complex genetic susceptibility in affected patients. Next-generation gene sequencing techniques have revealed various monogenetic mutations contributing to the pathogenesis of VEO-IBD, including interleukin 10 (IL-10) and IL-10 receptor (IL-10R) mutations. In this article, we reviewed the features of and effective therapeutic options for VEO-IBD with IL-10 and/or IL-10R mutations. The IL-10 signal pathway inhibits the release of several key cytokines and thereby has a significant anti-inflammatory effect in the gastrointestinal tract. Mutations of the genes encoding IL-10 and/or IL-10R have been detected in VEO-IBD patients among myriad populations throughout the world. VEO-IBD patients with IL-10 or IL-10R mutations often present with repeated bouts of bloody diarrhea, marked weight loss, growth retardation, and recurrent perianal problems, including abscesses, fistulas, and significant fissures. Moreover, some patients may have folliculitis and present with pulmonary infections. While the therapeutic efficacy of immunosuppressants is typically poor in these patients, allogeneic hematopoietic stem cell transplantation (HSCT) has been reported to improve symptoms significantly. However, the long-term prognosis of VEO-IBD patients with IL-10 or IL-10R gene mutations treated with HSCT requires further exploration to verify the efficacy and safety of this treatment. We concluded that clinicians should recognize the clinical phenotype of VEO-IBD, as mutational analysis of the IL-10 pathway can support the diagnosis and prompt early treatment of this complicated disease.
机译：极早期发作的炎症性肠病（VEO-IBD）是一种独特的疾病实体，在受影响的患者中具有复杂的遗传易感性。下一代基因测序技术揭示了导致VEO-IBD发病的各种单基因突变，包括白介素10（IL-10）和IL-10受体（IL-10R）突变。在本文中，我们回顾了具有IL-10和/或IL-10R突变的VEO-IBD的特征和有效的治疗选择。 IL-10信号途径抑制了几种关键细胞因子的释放，因此在胃肠道中具有显着的抗炎作用。在全世界无数人群的VEO-IBD患者中已经检测到编码IL-10和/或IL-10R的基因突变。患有IL-10或IL-10R突变的VEO-IBD患者通常会反复出现腹泻，明显的体重减轻，生长迟缓和复发性肛周问题，包括脓肿，瘘管和严重裂痕。此外，一些患者可能患有毛囊炎并出现肺部感染。尽管在这些患者中免疫抑制剂的治疗效果通常较差，但据报道异基因造血干细胞移植（HSCT）可以显着改善症状。然而，HSCT治疗的具有IL-10或IL-10R基因突变的VEO-IBD患者的长期预后需要进一步探索，以验证该治疗的有效性和安全性。我们得出的结论是，临床医师应认识到VEO-IBD的临床表型，因为IL-10途径的突变分析可以支持这种复杂疾病的诊断并及时进行早期治疗。

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