Delgado Juan F, Amengual María J, Veraguas Ana, Rodríguez Encarnación, de Los Santos Mariela M, Guallarte María P
Immunology Section Laboratory, UDIAT-Centre Diagnòstic, Corporació Sanitària Parc Taulí, Sabadell, Spain; Institut Universitari Parc Taulí-UAB, Universitat Autònoma de Barcelona, Campus d'Excelència Internacional, Bellaterra, Spain.
Acta Paediatr. 2014 Jun;103(6):e238-42. doi: 10.1111/apa.12605. Epub 2014 Mar 17.
The aim of this study was to determine the relevance of HLA-DR7-DQ2 typing in a prospective cohort of paediatric coeliac disease patients from Southern Europe.
This cross-sectional study tested 249 paediatric patients with coeliac disease. HLA-DR3-DQ2 was typed in combination with HLA-DR7-DQ2 to screen for the HLA-DQ2 haplotype. The histological, analytical and clinical characteristics of the subjects were recorded.
A total of 91 coeliac patients were diagnosed: 96.7% carried HLA-DQ2 and 4.4% carried HLA-DQ8. In percentage terms, 80.2% of patients carried HLA-DR3-DQ2 and 34.1% carried HLA-DR7-DQ2. We did not find significant differences between HLA-DR7-DQ2 and HLA-DR3-DQ2 paediatric patients with respect to histological damage and clinical characteristics, except for irritability and weight loss. These characteristics were more frequent in HLA-DQ2trans than in HLA-DQ2cis (22.2% vs. 0.0% [p = 0.035] and 55.6% vs. 21.4% [p = 0.017], respectively). Coeliac-specific autoantibody levels were higher in HLA-DQ2cis than one half of HLA-DQ2trans patients (105.5 vs. 19.2 U/mL, p = 0.014).
Small clinical differences were found between paediatric coeliac patients carrying HLA-DR7-DQ2 and HLA-DR3-DQ2. For a correct screening of HLA-DQ2, at least in our geographical population, the HLA-DR7-DQ2 haplotype should be typed due to its frequency and clinical presentation.
本研究旨在确定HLA - DR7 - DQ2分型在来自南欧的小儿乳糜泻患者前瞻性队列中的相关性。
这项横断面研究对249例小儿乳糜泻患者进行了检测。将HLA - DR3 - DQ2与HLA - DR7 - DQ2联合分型以筛查HLA - DQ2单倍型。记录受试者的组织学、分析和临床特征。
共诊断出91例乳糜泻患者：96.7%携带HLA - DQ2，4.4%携带HLA - DQ8。按百分比计算，80.2%的患者携带HLA - DR3 - DQ2，34.1%携带HLA - DR7 - DQ2。除易怒和体重减轻外，我们未发现携带HLA - DR7 - DQ2和HLA - DR3 - DQ2的小儿患者在组织学损伤和临床特征方面存在显著差异。这些特征在HLA - DQ2反式患者中比在HLA - DQ2顺式患者中更常见（分别为22.2%对0.0% [p = 0.035]和55.6%对21.4% [p = 0.017]）。HLA - DQ2顺式患者的乳糜泻特异性自身抗体水平高于HLA - DQ2反式患者的一半（105.5对19.2 U/mL，p = 0.014）。
携带HLA - DR7 - DQ2和HLA - DR3 - DQ2的小儿乳糜泻患者之间存在微小的临床差异。为了正确筛查HLA - DQ2，至少在我们所在的地理人群中，由于HLA - DR7 - DQ2单倍型的频率和临床表现，应进行其分型。
