Department of Internal Medicine and Therapeutics, Pediatrics and Adolescentology Unit, University of Pavia, Fondazione IRCCS Policlinico San Matteo, Piazzale C. Golgi 19, 27100, Pavia, Italy.
Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
Ital J Pediatr. 2017 Jul 15;43(1):59. doi: 10.1186/s13052-017-0377-5.
The aim of our study is to evaluate if in children with highly positive serology and HLA-DQ2/DQ8 (triple test, TT) and only extra-intestinal symptoms, it is possible to omit performing an intestinal biopsy for celiac disease (CD) diagnosis, as suggested by the new European Society for Pediatric Gastroenterology, Hepatology and Nutrition ESPGHAN guidelines.
In this retrospective study a total of 105 patients, suspected of having CD because of extra-intestinal symptoms and showing serum tissue transglutaminase antibody (anti-tTG) and anti-endomysial antibody (EMA) measurements and HLA genotyping, were considered for the final analysis (33 boys and 72 girls; age range 1.5-17.6 years).
Histological findings confirmed diagnosis of CD in 97 (92.4%) patients. Forty-one patients (39%) showed anti-tTG >10 times normal values, positive EMA and positive HLA-DQ2/DQ8 (positive TT). All of them had a diagnosis of CD, therefore there were no false positive cases. Sixty-four patients were negative for the TT. In eight cases, CD was ruled out and these were considered true negative cases. In the remaining 56 negative TT patients, intestinal biopsy confirmed CD diagnosis and they were considered false negatives. Based on these results, specificity for the TT was 100% and sensitivity was 42.3%.
On the basis of the present study, diagnosis of CD can be reliably performed without a duodenal biopsy in children with only extra-intestinal symptoms.
本研究旨在评估在高度阳性血清学和 HLA-DQ2/DQ8（三联检测，TT）且仅有肠外症状的儿童中，是否可以根据新的欧洲儿科胃肠病学、肝病学和营养学协会（ESPGHAN）指南建议，避免进行肠活检以诊断乳糜泻（CD）。
在这项回顾性研究中，共纳入了 105 名因肠外症状且血清组织转谷氨酰胺酶抗体（抗 tTG）和抗内肌层抗体（EMA）检测以及 HLA 基因分型而疑似患有 CD 的患者（33 名男孩和 72 名女孩；年龄 1.5-17.6 岁），进行最终分析。
组织学发现证实了 97 名（92.4%）患者的 CD 诊断。41 名患者（39%）的抗 tTG 大于正常值的 10 倍，EMA 阳性和 HLA-DQ2/DQ8 阳性（TT 阳性）。所有患者均被诊断为 CD，因此没有假阳性病例。64 名患者 TT 阴性。8 例排除 CD，这些病例被认为是真正的阴性病例。在其余 56 例 TT 阴性的患者中，肠活检证实 CD 诊断，这些患者被认为是假阴性病例。基于这些结果，TT 的特异性为 100%，敏感性为 42.3%。
根据本研究，在仅有肠外症状的儿童中，可以可靠地进行 CD 诊断，而无需进行十二指肠活检。
