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乳糜泻:一种多方面的医学病症。

Celiac disease: a multi-faceted medical condition.

机构信息

Fourth Medical Clinic, 5th Department of Internal Medicine, "Iuliu Hatieganu" University of Medicine and Pharmacy, Cluj-Napoca, Romania.

Research Center for Functional Genomics, Biomedicine and Translational Medicine, "Iuliu Hatieganu" University of Medicine and Pharmacy, Cluj-Napoca, Romania.

出版信息

J Physiol Pharmacol. 2020 Feb;71(1). doi: 10.26402/jpp.2020.1.01. Epub 2020 Apr 27.

Abstract

Celiac disease (CD) is a systemic condition of autoimmune origin, affecting genetically predisposed individuals who at some point lose tolerance towards dietary gluten. Prevalence in the general population is 0.5 - 1%, with a higher frequency in women. The most important environmental factor for CD is ingestion of specific gluten peptides. It triggers a sequence of molecular events, involving the intestinal permeability and the immune system, which ends in damage of the intestinal mucosa. A number of studies have demonstrated the correlation between the intestinal microbiota and celiac disease. MicroRNAs through their regulatory role on gene expression have been implicated in the pathogenesis of CD and suggested as potential biomarkers. In the pediatric and adult population, CD displays different clusters of clinical symptoms. Persistent diarrhea, abdominal pain and involuntary weight loss are the classic symptoms of CD. In the majority of cases diagnosis relies on the combination of serum autoantibodies (anti-transglutaminase and anti-endomisium IgA) and duodenal biopsy showing villous atrophy, crypt hyperplasia and intraepithelial lymphocytes. Observance of a lifelong gluten-free diet, which interrupts the immune response to gluten peptides, is the only effective treatment of CD.

摘要

乳糜泻(CD)是一种自身免疫性疾病,影响遗传易感性个体,这些个体在某个时候会对饮食中的麸质失去耐受性。普通人群的患病率为 0.5-1%,女性患病率更高。CD 的最重要环境因素是摄入特定的麸质肽。它引发了一系列分子事件,涉及肠道通透性和免疫系统,最终导致肠道黏膜损伤。许多研究已经证明了肠道微生物群与乳糜泻之间的相关性。microRNA 通过其对基因表达的调节作用,与 CD 的发病机制有关,并被认为是潜在的生物标志物。在儿科和成人人群中,CD 表现出不同的临床症状簇。持续性腹泻、腹痛和非自愿体重减轻是 CD 的典型症状。在大多数情况下,诊断依赖于血清自身抗体(抗转谷氨酰胺酶和抗内肌层 IgA)的组合和十二指肠活检,显示绒毛萎缩、隐窝增生和上皮内淋巴细胞。遵循终生无麸质饮食,这中断了对麸质肽的免疫反应,是 CD 的唯一有效治疗方法。

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