Bishop Jonathan, Ravikumara Madhur
Department of Gastroenterology, Starship Hospital, Auckland, New Zealand.
Department of Gastroenterology, Perth Children's Hospital, Perth, Western Australia, Australia.
J Paediatr Child Health. 2020 Nov;56(11):1685-1693. doi: 10.1111/jpc.14674.
Coeliac disease (CD) is an autoimmune condition, characterised by an immunological response to ingestion of gluten in genetically susceptible individuals, affecting about 1% of the population in many regions of the world. Increased knowledge regarding the pathogenesis, improved diagnostic techniques and increased awareness over the years have transformed our understanding of CD such that it is no longer a rare enteropathy, but rather a common multisystem disorder which affects individuals of all ages and results in wide-ranging clinical manifestations. Only a minority of children now present with the classical clinical picture of profound diarrhoea and malnutrition. An increasing number of children with CD present with either mild, non-specific gastrointestinal symptoms or extra-intestinal manifestations or even be asymptomatic, as in many screening-detected children. Knowledge about these diverse manifestations and a high index of suspicion is essential so that appropriate investigations can be undertaken, diagnosis established and treatment initiated. Although traditionally small bowel biopsy is considered essential for the diagnosis, recent guidelines from various professional bodies have paved the way to a biopsy-free diagnosis in a subset of symptomatic children. Life long, strict gluten-free diet still remains the only effective treatment at present, although several novel therapeutic agents are in various phases of clinical trials.
乳糜泻(CD)是一种自身免疫性疾病,其特征是在遗传易感个体中对摄入麸质产生免疫反应,在世界许多地区约影响1%的人口。多年来,关于发病机制的知识增加、诊断技术的改进以及认识的提高,改变了我们对乳糜泻的理解,以至于它不再是一种罕见的肠病,而是一种常见的多系统疾病,影响所有年龄段的个体,并导致广泛的临床表现。现在只有少数儿童表现出严重腹泻和营养不良的典型临床症状。越来越多的乳糜泻儿童表现为轻度、非特异性胃肠道症状或肠外表现,甚至无症状,许多通过筛查发现的儿童就是如此。了解这些多样的表现并保持高度怀疑指数至关重要,这样才能进行适当的检查、确立诊断并开始治疗。尽管传统上小肠活检被认为是诊断的关键,但各专业机构最近的指南为一部分有症状的儿童开辟了无需活检即可诊断的道路。目前,终身严格的无麸质饮食仍然是唯一有效的治疗方法,尽管有几种新型治疗药物正处于临床试验的不同阶段。