背景:我们评估了乳糜泻(CD)的诊断方法,以及新的ESPGHAN指南如何应用于来自不同资源国家的儿童。
方法:在13个不同地中海国家的14个中心进行了一项现实生活中的前瞻性研究。要求参与者根据其诊断设施对CD进行常规诊断检查。
结果:1974名患者参加了这项研究,平均年龄4岁,10个月;865名男性,1109女。511例(25.9%)患者确诊CD,1391例(70.5%)患者未确诊;根据新的ESPGHAN指南,14例患者被诊断为患有CD,43名患者被分类为具有潜在CD。在所有参与国家,CD的诊断依赖于十二指肠活检的组织学;在5个国家,HLA,在一个国家,没有肌内膜抗体(EMA)。症状并未显着增加血清学测试的测试前概率。在tTG>10xULN存在下,用不同试剂盒进行的组织转谷氨酰胺酶2型(tTG)抗体的阳性预测值为96.1%(95%CI94-97.9%)。在135例tTG>10xULN的患者中,进行了HLA基因分型,并且与CD兼容。
结论:我们的研究结果表明,在地中海地区,CD的诊断仍然依赖于肠活检。由于缺乏进行HLA基因分型所需的资源,新的ESPGHAN标准在5个国家不适用,在一个国家,EMA测定。新的ESPGHAN指南的进一步简化可能会根据当前结果的初步建议,如果得到新的前瞻性研究的证实。
BACKGROUND: We assessed how the diagnosis of Celiac Disease (CD) is made and how the new ESPGHAN
guidelines can be applied in children from countries with different resources.
METHODS: A real life prospective study was performed in 14 centres of 13 different Mediterranean countries. Participants were asked to apply the usual diagnostic work-up for CD according to their diagnostic facilities.
RESULTS: There were 1974 patients enrolled in the study, mean age 4 years, 10 months; 865 male, 1109 female. CD was confirmed in 511 (25.9%) and was unconfirmed in 1391 (70.5%) patients; 14 patients were diagnosed as having CD according to the new ESPGHAN
guidelines, 43 patients were classified as having potential CD. In all participating countries the diagnosis of CD relied on histology of duodenal biopsy; in 5 countries, HLA, and in one country endomysial antibodies (EMA) were not available. Symptoms did not add a significant increase to the pre-test probability of serological tests. The positive predictive value of tissue transglutaminase type 2 (tTG) antibodies performed with different kits but all corresponding to those recommended by ESPGHAN was 96.1% (95% CI 94-97.9%) in presence of tTG > 10xULN. In 135 patients with tTG >10xULN, HLA genotyping was performed and in all it was compatible with CD.
CONCLUSIONS: The results of our study show that CD diagnosis still relies on intestinal biopsy in the Mediterranean area. New ESPGHAN criteria are not applicable in 5 countries due to lack of resources needed to perform HLA genotyping and, in one country, EMA assay. Further simplification of the new ESPGHAN
guidelines might be made according to what preliminarily the present results suggest if confirmed by new prospective studies.