Wessels Margreet M S, Vriezinga Sabine L, Koletzko Sybille, Werkstetter Katharina, Castillejo-De Villasante Gemma, Shamir Raanan, Hartman Corina, Putter Hein, van der Pal Sylvia M, Wijmenga Cisca, Bravi Enzo, Mearin M Luisa
Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands.
Department of Pediatrics, Hauner Children's Hospital, Munich, Germany.
Eur J Hum Genet. 2015 Mar;23(3):405-8. doi: 10.1038/ejhg.2014.113. Epub 2014 Jun 11.
Due to the association of coeliac disease and HLA-specificities DQ2 and DQ8, HLA-typing can be used for risk determination of the disease. This study was designed to evaluate the knowledge of parents from coeliac families regarding HLA-typing and the impact of HLA-typing on the perception of the health of their children. A structured questionnaire was sent to the Dutch, Spanish and German parents participating with their child in the European PreventCD study on disease prevention in high-risk families, addressing parents' understanding of and attitude towards HLA-typing, distress related to HLA-typing and perceived health and health-related quality of life of their children. Sixty-eight percent of parents of 515 children returned the questionnaires, with 85% of children being DQ2/DQ8 positive. The majority of all parents answered the questions on knowledge correctly. Forty-eight percent of parents of DQ2/DQ8-negative children thought their child could develop coeliac disease. More distress was reported by parents of DQ2/DQ8-positive children (P<0.001). All parents showed few regrets and would repeat HLA-typing in future children. Perceived health and health-related quality of life were similar. In conclusion, we can say that misinterpretation of DQ2/DQ8-negative results by parents is frequent. DQ2/DQ8-positive results do not affect perceived health and health-related quality of life of children but may cause temporary negative feelings among parents. Parents of coeliac families seem to support HLA-typing.
由于乳糜泻与HLA特异性DQ2和DQ8相关联,HLA分型可用于该疾病的风险判定。本研究旨在评估乳糜泻患儿家庭中父母对HLA分型的了解情况,以及HLA分型对其子女健康认知的影响。向参与欧洲PreventCD高危家庭疾病预防研究的荷兰、西班牙和德国父母及其子女发放了一份结构化问卷,内容涉及父母对HLA分型的理解和态度、与HLA分型相关的困扰以及他们对子女健康和健康相关生活质量的认知。515名儿童的父母中有68%返回了问卷,其中85%的儿童DQ2/DQ8呈阳性。所有父母中的大多数对知识问题回答正确。DQ2/DQ8阴性儿童的父母中有48%认为他们的孩子可能会患乳糜泻。DQ2/DQ8阳性儿童的父母报告的困扰更多(P<0.001)。所有父母几乎没有遗憾,并且愿意在未来的孩子中重复进行HLA分型。对健康和健康相关生活质量的认知相似。总之,我们可以说父母对DQ2/DQ8阴性结果的误解很常见。DQ2/DQ8阳性结果不会影响对儿童健康和健康相关生活质量的认知,但可能会在父母中引起暂时的负面情绪。乳糜泻患儿家庭的父母似乎支持HLA分型。