IL-10RA 复合同源突变导致的新生儿克罗恩病:病例报告

Salma Abed Samamqa
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摘要

极早发性炎症性肠病(VEO-IBD)和婴儿IBD分别发生在6岁以下和2岁以下的儿童中。由于儿童期发病的IBD似乎是一种比成人发病的IBD更具侵袭性和快速增长的疾病,因此应该尽早发现和治疗。在这里,我们报告了一个5个月大的婴儿IBD的诊断,这是通过全外显子组测序证实的。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Neonatal Crohn’s Disease Caused by Compound Homozygous Mutation in IL-10RA: A Case Report
Very Early-Onset Inflammatory Bowel Disease (VEO-IBD) and infantile IBD occur in children aged less than six years and younger than two years, respectively. Since childhood-onset IBD seems to be a more aggressive and rapidly growing disease than adult-onset IBD, it should be identified and treated as soon as possible. Here, we report the diagnosis of infantile IBD in a five-month-old child, which was confirmed by whole exome sequencing.
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