Diagnostic challenges in children with celiac disease. A five-year experience with new guidelines in a General Pediatrics Department

Q4 Medicine
D. Pop, Radu Samuel Pop, C. Schnell, Valentina Tarau-Sas, Edita-Gabriela Ichim, P. Cherecheș-Panța, D. Iacob, D. Gheban, S. Man, D. Farcău
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Abstract

Background. The clinical characteristics of patients with celiac disease cover a wide range of signs and symptoms. Our study aimed to describe the main clinical features and investigations performed on our celiac patients diagnosed in the past five years. Material and methods. We collected data from medical records of patients aged 0 to 18 years diagnosed with celiac disease. We included in the analysis patients newly diagnosed with celiac disease, in our department, between January 2017 and August 2022. Results. In this period, 30 children were diagnosed with celiac disease in our general pediatrics department. The mean age at diagnosis ± standard deviation was 6.3±4.2 years (median age=4.3 years). The period between onset of symptoms ranged between 3 months to 5 years (median=6 months). Twenty children (66%) had features of classical celiac disease. Thirteen/30 patients (43.3%) were found to have iron deficiency anemia at diagnosis. In 23/30 (76%) of the children, the values of the IgA-TGA were more than 10 times the upper limit of the normal values. Nineteen children were diagnosed between 2017 and 2019. Fifteen of these 19 patients (79%) were diagnosed based on positive levels of antibodies and duodenal biopsy samples showing Marsh 2 or 3 features, and 4/19 (21%) based on positive IgA-TGA and AEM and a genetic test showing HLA DQ2 and/or DQ8. Conclusions. Classical celiac disease remains the predominant phenotype in our patients. Adherence to new guidelines allowed in the past 2 years a diagnosis without histological examination of biopsy fragments in most of the patients.
乳糜泻患儿的诊断挑战在普通儿科新指南的五年经验
背景。乳糜泻患者的临床特征包括广泛的体征和症状。我们的研究旨在描述过去五年中诊断为乳糜泻的患者的主要临床特征和调查。材料和方法。我们收集了0 - 18岁被诊断为乳糜泻的患者的医疗记录数据。我们纳入了2017年1月至2022年8月期间在我科新诊断为乳糜泻的患者。结果。在此期间,30名儿童在我们的普通儿科被诊断为乳糜泻。平均诊断年龄±标准差为6.3±4.2岁(中位年龄=4.3岁)。出现症状的时间间隔为3个月至5年(中位数=6个月)。20名儿童(66%)具有典型乳糜泻的特征。诊断时发现缺铁性贫血13 /30例(43.3%)。23/30(76%)患儿IgA-TGA值超过正常值上限10倍以上。2017年至2019年期间,有19名儿童被确诊。这19例患者中有15例(79%)是基于抗体阳性水平和十二指肠活检样本显示Marsh 2或3特征而诊断的,4/19(21%)是基于IgA-TGA和AEM阳性以及HLA DQ2和/或DQ8基因检测而诊断的。结论。经典乳糜泻仍然是我们患者的主要表型。在过去的两年中,新指南允许大多数患者在没有活检碎片的组织学检查的情况下进行诊断。
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来源期刊
CiteScore
0.10
自引率
0.00%
发文量
15
审稿时长
4 weeks
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