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首页 > 医学词汇大全 > Infantile inflammatory bowel disease
Infantile inflammatory bowel disease

儿科

关键词儿科 疾病 炎症性肠病

词汇介绍

拓展阅读

解析

infantile  英 [ˈɪnfəntaɪl]  美 [ˈɪnfəntaɪl]

释    义   adj. 婴儿的;幼稚的;初期的

例    句   These bone-specific markers may be useful for the early assessment of malignant infantile osteopetrosis patients with stem cell transplantation. 这些骨-特定的标记可能对干细胞移植的有恶性婴儿骨硬病患者的早期估是有用的。

 

inflammatory  英 [ɪnˈflæmətri]  美 [ɪnˈflæmətɔːri]

释    义   adj. 炎症性的;煽动性的;激动的

例    句   If you cut your finger, the body begins an inflammatory process immediately. 如果您切到了您的手指,身体立即开始发炎进程。

 

bowel  英 [ˈbaʊəl]  美 [ˈbaʊəl]

释    义   n. 肠;内部;同情vt. 将……的肚肠取出

例    句   An absolute indication is the presence of bladder or bowel complaints. 出现膀胱或肠道功能障碍是其中一个绝对的指征。

 

disease  英 [dɪˈziːz]  美 [dɪˈziːz]

释    义   n. 病,[医] 疾病;弊病vt. 传染;使…有病

例    句   So, in each of us there are some preconditions for this disease. 因此,我们中的每一个人都获得这种疾病的一些先天条件。

概述

炎症性肠病(IBD)是一种遗传易感性、环境与免疫紊乱发生交互作用而发展起来的疾病,主要包括克罗恩病、溃疡性结肠炎、未定型IBD。20%-25% 的IBD 患者于儿童期和青春期发病,婴儿期 IBD 约占儿童期 IBD 的1%,6 岁之前发病的极早发型IBD约占儿童期 IBD 的15%。发病年龄越小的 IBD 患儿往往会表现出更严重的生长发育迟缓及更广泛的肠道受累,尤其婴幼儿 IBD,更具有遗传倾向、病情更严重,对传统抗炎和免疫抑制治疗反应差。病因及临床意义VEO‐IBD 尤其是婴幼儿期 IBD

A Unique Presentation of Infantile-Onset Colitis and Eosinophilic Disease without Recurrent Infections Resulting from a Novel Homozygous CARMIL2 Variant复制标题

一种由一种新型纯合CARMIL2变异体引起的无反复感染的婴儿发病的结肠炎和嗜酸性粒细胞疾病的独特表现

发表时间:2019-05-11

影响因子:4.1

作者: Kurolap Alina

期刊:J Clin Immunol

Infantile-onset inflammatory bowel disease (IBD) refers to a rare group of inflammatory gastrointestinal disorders with onset before the age of 2 years. To date, nearly 100 different monogenic conditions have been described that include gastro- intestinal manifestations with an IBD-like phenotype among other systemic features. Considering the intestines are a major lymphoid organ, primary immunodeficiency and immune dysregulation syndromes contribute to more than half of monogenic IBD syndromes. Suspicion for immune-based hereditary IBD disorder is raised by a clinical history of recurrent infections, young age at presentation, severe manifestations, consanguinity, and immunological workup impairments.Recently, several patients with primary immunodeficiency have been described with pathogenic variants in the capping protein regulator and myosin 1 linker 2 (CARMIL2), also known as RGD, leucine-rich repeat, tropomodulin, and proline-rich-containing protein (RLTPR). CARMIL2- immunodeficiency syndrome is characterized by a combined immune defect in T and B cells, as shown by various studies in humans and mice. The limited number of patients reported presented with recurrent infections, mostly of the respiratory system, and cutaneous features, including psoriatic rash, ecze- ma, and skin warts. Chronic diarrhea was observed in some of the patients, though there is limited related phenotypic data. We report on a patient with a novel homozygous CARMIL2 variant, manifesting primarily as infantile-onset colitis and eosinophilic disease.

译文

婴儿炎症性肠病(ibd)是一种少见的2岁以前发病的炎症性胃肠道疾病。迄今为止,已经描述了近100种不同的单基因条件,包括胃肠道表现和ibd样表型以及其他系统特征。考虑到肠道是主要的淋巴器官,原发性免疫缺陷和免疫失调综合征占单基因ibd综合征的一半以上。由于反复感染的临床病史、年轻的发病年龄、严重的临床表现、血缘关系和免疫检查障碍,人们对基于免疫的遗传性ibd疾病产生了怀疑。最近,一些原发性免疫缺陷的患者被描述为capping蛋白调节剂和肌球蛋白1连接蛋白2(carmil2,又称rgd、富含亮氨酸重复序列、原调节蛋白和富含脯氨酸的蛋白质(rltpr))的致病性变体。carmil2-免疫缺陷综合征的特征是t细胞和b细胞的联合免疫缺陷,人类和小鼠的各种研究都表明了这一点。报告的少数病人表现为反复感染,主要是呼吸系统和皮肤特征,包括银屑病皮疹、湿疹和皮肤疣。部分患者出现慢性腹泻,但相关表型资料有限。我们报告一个新的纯合子carmil2变异的病人,主要表现为婴儿起病的结肠炎和嗜酸性粒细胞增多症。