Dirks Martha H
Division of Gastroenterology, Hepatology and Nutrition, Hôpital Sainte-Justine and the University of Montreal, Montreal, Quebec.
Paediatr Child Health. 2004 Dec;9(10):714-718. doi: 10.1093/pch/9.10.714.
Celiac disease is an immune-mediated enteropathy affecting 0.5% to 1% of children and is induced by dietary gluten in susceptible individuals carrying the human leukocyte antigen DQ2 or DQ8 heterodimer. If serological screening is positive or if a patient displays suggestive symptoms, an endoscopic biopsy of the distal duodenum is required to confirm the diagnosis. Symptoms of celiac disease are often mild or absent. Overt malabsorption occurs in only 2% to 10% of children. Individuals with a higher risk of developing celiac disease, including first-degree relatives of affected patients and children with type I diabetes, Turner syndrome, Williams syndrome or Down syndrome, should be offered screening for celiac disease along with a discussion of the implications. If serological testing is negative, a high index of suspicion should remain if malabsorption, iron deficiency or osteopenia is present. Also, immunoglobulin A deficiency should be excluded. At-risk individuals should undergo serial serological screening. Lifelong adherence to a gluten-free diet is the only treatment. If left untreated, symptomatic children with celiac disease carry an increased risk of developing osteoporosis and have a greater lifetime risk of cancer. The long-term outcome of undiagnosed or untreated asymptomatic individuals is less clear.
乳糜泻是一种免疫介导的肠病，影响0.5%至1%的儿童，由携带人类白细胞抗原DQ2或DQ8异二聚体的易感个体摄入膳食麸质所诱发。如果血清学筛查呈阳性，或者患者出现提示性症状，则需要进行十二指肠远端的内镜活检以确诊。乳糜泻的症状通常较轻或无明显症状。仅有2%至10%的儿童会出现明显的吸收不良。乳糜泻发病风险较高的个体，包括患病患者的一级亲属以及患有1型糖尿病、特纳综合征、威廉姆斯综合征或唐氏综合征的儿童，应接受乳糜泻筛查并进行相关影响的讨论。如果血清学检测呈阴性，而存在吸收不良、缺铁或骨质减少的情况，则应保持高度怀疑。此外，应排除免疫球蛋白A缺乏症。高危个体应接受系列血清学筛查。终身坚持无麸质饮食是唯一的治疗方法。如果不进行治疗，有症状的乳糜泻儿童患骨质疏松症的风险会增加，且一生患癌风险更高。未确诊或未治疗的无症状个体的长期预后尚不清楚。
