Department of Paediatrics, VU University Medical Centre, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands.
Eur J Pediatr. 2012 Jul;171(7):1011-21. doi: 10.1007/s00431-012-1714-8. Epub 2012 Mar 16.
Coeliac disease (CD) is an immune-mediated systemic condition elicited by gluten and related prolamines in genetically predisposed individuals and characterised by gluten-induced symptoms and signs, specific antibodies, a specific human leukocyte antigen (HLA) type and enteropathy. The risk of coeliac disease is increased in first-degree relatives, certain syndromes including Down syndrome and autoimmune disorders. It is thought to occur in 1 in 100-200 individuals, but still only one in four cases is diagnosed. Small-bowel biopsy is no longer deemed necessary in a subgroup of patients, i.e. when all of the following are present: typical symptoms or signs, high titres of and transglutaminase antibodies, endomysial antibodies, and HLA-type DQ2 or DQ8. In all other cases, small-bowel biopsy remains mandatory for a correct diagnosis. Therapy consists of a strictly gluten-free diet. This should result in complete disappearance of symptoms and of serological markers. Adequate follow-up is considered essential.
Although small-bowel biopsy may be omitted in a minority of patients, small-bowel biopsy is essential for a correct diagnosis of CD in all other cases. Diagnostic work-up should be completed before treatment with gluten-free diet instituted.
描述乳糜泻（CD）的发病机制、临床表现、诊断和治疗。
对文献进行系统回顾和专家意见。
乳糜泻是一种由遗传易感性个体的麸质和相关醇溶蛋白引起的免疫介导的系统性疾病，其特征为麸质诱导的症状和体征、特异性抗体、特定的人类白细胞抗原（HLA）类型和肠病。一级亲属、某些综合征（包括唐氏综合征和自身免疫性疾病）中乳糜泻的风险增加。据认为，每 100-200 人中就有 1 人发生乳糜泻，但仍只有四分之一的病例得到诊断。在一组患者中，即当存在以下所有情况时，不再需要进行小肠活检：典型症状或体征、高滴度和转谷氨酰胺酶抗体、抗肌内膜抗体和 HLA 型 DQ2 或 DQ8。在所有其他情况下，小肠活检仍然是正确诊断所必需的。治疗包括严格的无麸质饮食。这应该导致症状和血清学标志物完全消失。充分的随访被认为是必不可少的。
尽管在少数患者中可以省略小肠活检，但在所有其他情况下，小肠活检对于正确诊断 CD 都是必不可少的。在开始无麸质饮食治疗之前，应完成诊断性检查。
