Ruera Carolina Naymé, Guzman Luciana, Menendez Lorena, Orellano Laura, Girard Bosch María Cecilia, Catassi Carlo, Chirdo Fernando Gabriel
Departmento de Ciencias Biologicas, Facultad de Ciencias Exactas, UNLP, Instituto de Estudios Inmunologicos y Fisiopatologicos (IIFP) (UNLP-CONICET), La Plata, Argentina.
Hospital de Niños Superiora Sor María Ludovica, La Plata, Argentina.
Front Nutr. 2025 Feb 25;12:1500632. doi: 10.3389/fnut.2025.1500632. eCollection 2025.
Diagnosis of celiac disease (CeD), an immune-mediated disorder, is based on clinical presentation, a panel of serological markers, and the histopathological findings in duodenal biopsies. Commonly, pediatric CeD patients fulfill these criteria for diagnosis. However, lack of correlation between serology tests and histology, or no accessible biopsies because of clinical conditions or during the COVID pandemic, are conditions that led to inconclusive diagnoses. Since the majority of CeD patients carry HLA-DQ2 and/or DQ8 alleles, HLA testing is used as a complementary tool in diagnosis though is costly and not broadly available for gastroenterology centers.
We performed a retrospective study to assess the performance of HLA testing when applied to selected groups of patients who could not be definitely diagnosed following the common algorithm. Eighty patients underwent testing for CeD-related HLA-DQ2 and DQ8 alleles.
HLA typing contributed to diagnosis in 34 patients with positive serology but normal mucosa or those who presented negative serology or slightly positive serology (less than 3 times ULN) and duodenal histopathological changes. In patients with normal histology and negative or slightly positive serology, or those who did not undergo intestinal biopsy (39 in total), HLA typing contributed to CeD diagnosis in 23 cases, only 16 patients were admitted for a clinical follow-up program.
HLA-DQ typing supported the diagnosis in 57 of 80 children (71.2%) with previously inconclusive results, providing a beneficial approach for diagnosing celiac disease (CeD) in selected cases.
乳糜泻（CeD）是一种免疫介导的疾病，其诊断基于临床表现、一组血清学标志物以及十二指肠活检的组织病理学结果。通常，儿科CeD患者符合这些诊断标准。然而，血清学检测与组织学之间缺乏相关性，或者由于临床情况或在新冠疫情期间无法进行活检，这些情况导致诊断不明确。由于大多数CeD患者携带HLA-DQ2和/或DQ8等位基因，HLA检测被用作诊断的辅助工具，尽管成本高昂且并非所有胃肠病中心都能广泛开展。
我们进行了一项回顾性研究，以评估HLA检测应用于按照常规算法无法明确诊断的特定患者群体时的表现。80名患者接受了与CeD相关的HLA-DQ2和DQ8等位基因检测。
HLA分型有助于34例血清学阳性但黏膜正常或血清学阴性或轻度阳性（低于正常上限3倍）且有十二指肠组织病理学改变的患者的诊断。在组织学正常且血清学阴性或轻度阳性的患者，或未进行肠道活检的患者（共39例）中，HLA分型有助于23例CeD的诊断，只有16例患者进入临床随访程序。
HLA-DQ分型为80例先前诊断不明确的儿童中的57例（71.2%）提供了诊断支持，为特定病例的乳糜泻（CeD）诊断提供了一种有益的方法。
