Elias J, Hoorweg-Nijman J J G, Balemans W A
Department of Pediatrics, St. Antonius Hospital, Nieuwegein, The Netherlands.
Department of Cardiology, Academic Medical Center, Amsterdam, The Netherlands.
Diabet Med. 2015 Jun;32(6):834-8. doi: 10.1111/dme.12658. Epub 2014 Dec 28.
To investigate the clinical relevance and cost-effectiveness of human leukocyte antigen (HLA)-genotyping in the Netherlands as a screening tool for the development of coeliac disease in children with Type 1 diabetes mellitus.
A retrospective analysis was performed in 110 children with Type 1 diabetes mellitus diagnosed between January 1996 and January 2013. All children were screened for coeliac disease using coeliac disease-specific antibodies and HLA genotyping was performed in all children.
One hundred and ten children were screened for coeliac disease, and coeliac disease could be confirmed in seven. Eighty-six per cent of the children with Type 1 diabetes mellitus had one of the variants of HLA-DQ2.5 and DQ8. HLA genotypes observed in children with Type 1 diabetes mellitus children and coeliac disease were heterozygote DQ2.5, homozygote DQ2.5 and heterozygote DQ2.5/DQ8. HLA genotyping in coeliac disease screening in children with Type 1 diabetes mellitus is more expensive than screening for coeliac disease with antibodies alone (€326 vs. €182 per child).
The risk of coeliac disease development in children with Type 1 diabetes mellitus is increased when they are heterozygote DQ2.5/DQ8, homozygote or heterozygote DQ2.5. The implementation of HLA genotyping as a first-line screening tool has to be reconsidered because it is not distinctive or cost-effective.
研究荷兰人类白细胞抗原(HLA)基因分型作为1型糖尿病儿童乳糜泻发病筛查工具的临床相关性和成本效益。
对1996年1月至2013年1月期间诊断为1型糖尿病的110名儿童进行回顾性分析。所有儿童均使用乳糜泻特异性抗体进行乳糜泻筛查,并对所有儿童进行HLA基因分型。
对110名儿童进行了乳糜泻筛查,其中7名确诊为乳糜泻。86%的1型糖尿病儿童携带HLA-DQ2.5和DQ8的变体之一。在1型糖尿病合并乳糜泻的儿童中观察到的HLA基因型为杂合子DQ2.5、纯合子DQ2.5和杂合子DQ2.5/DQ8。在1型糖尿病儿童中进行乳糜泻筛查时,HLA基因分型比仅用抗体筛查乳糜泻更昂贵(每名儿童326欧元对182欧元)。
1型糖尿病儿童为杂合子DQ2.5/DQ8、纯合子或杂合子DQ2.5时,发生乳糜泻的风险增加。HLA基因分型作为一线筛查工具的应用必须重新考虑,因为它不具特异性且不具成本效益。