Sumnik Zdenek, Kolouskova Stanislava, Malcova Hana, Vavrinec Jan, Venhacova Jitrenka, Lebl Jan, Cinek Ondrej
Department of Paediatrics, 2nd Faculty of Medicine, V Uvalu 84, 150 06 Prague 5, Czech Republic.
Eur J Pediatr. 2005 Jan;164(1):9-12. doi: 10.1007/s00431-004-1547-1. Epub 2004 Oct 7.
Coeliac disease has been shown to occur more frequently among first-degree relatives of diabetic patients than in the general population. Our objective was to assess the prevalence of endomysium antibodies (EMA) in non-diabetic siblings of Czech diabetic children and to evaluate the effects of HLA-DQ polymorphisms in determining the genetic susceptibility to coeliac disease (CD) in these subjects. We investigated 240 siblings of diabetic children from 213 families (125 males and 115 females, aged 12.6+/-4.9 years, mean +/- SD). All subjects were tested for the total IgA level to exclude IgA deficiency, and for endomysium IgA to disclose CD. In five IgA-deficient subjects, anti-gliadin IgG was used instead. Small bowel biopsy was offered to subjects with confirmed positive EMA. The HLA-DQA1, -DQB1 genotypes were determined using PCR-SSP. Positive EMA were found in 9/240 (3.8%) subjects (three males, six females). The biopsy confirmed CD in six children, two had a normal mucosal finding and one refused the biopsy. The HLA-DQ2 polymorphism was more frequent among siblings with EMA (seven of nine) than in siblings without EMA (33%), corrected P = 0.031.
The 3.8% frequency of coeliac disease found in siblings of diabetic children is close to the 4.3% found previously in Czech children with type 1 diabetes mellitus and is substantially higher than the rate in the healthy children population.
乳糜泻在糖尿病患者的一级亲属中比在普通人群中更常见。我们的目的是评估捷克糖尿病儿童的非糖尿病同胞中肌内膜抗体（EMA）的患病率，并评估HLA - DQ多态性在确定这些受试者对乳糜泻（CD）的遗传易感性中的作用。我们调查了来自213个家庭的240名糖尿病儿童的同胞（125名男性和115名女性，年龄12.6±4.9岁，均值±标准差）。所有受试者均检测总IgA水平以排除IgA缺乏，并检测肌内膜IgA以诊断CD。对于5名IgA缺乏的受试者，使用抗麦醇溶蛋白IgG替代检测。对EMA确诊为阳性的受试者进行小肠活检。使用PCR - SSP确定HLA - DQA1、- DQB1基因型。在9/240（3.8%）的受试者中发现EMA阳性（3名男性，6名女性）。活检确诊6名儿童患有CD，2名黏膜检查正常，1名拒绝活检。EMA阳性的同胞中HLA - DQ2多态性比EMA阴性的同胞更常见（9例中有7例），校正P = 0.031。
糖尿病儿童同胞中乳糜泻的患病率为3.8%，接近先前在捷克1型糖尿病儿童中发现的4.3%，且显著高于健康儿童人群中的患病率。
