Department of Pediatric Gastroenterology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
J Gastroenterol Hepatol. 2010 Feb;25(2):319-24. doi: 10.1111/j.1440-1746.2009.06044.x. Epub 2009 Nov 19.
Data on prevalence, human leukocyte antigen (HLA) typing and small bowel histology among first-degree relatives of subjects with celiac disease (CD) is scarce. This prospective study evaluated the prevalence and role of HLA DQ2/8 testing in screening of first-degree relatives of children with CD.
Thirty confirmed children with CD and 91/94 first-degree relatives (parents and siblings) were enrolled. HLA DQ2/8 testing was carried out in all index CD cases. Clinical evaluation with a questionnaire, total serum immunoglobulin A (IgA), human IgA-tissue transglutaminase (IgA-tTGA) and HLA DQ2/8 testing was carried out in all first-degree relatives. Subjects who were positive for IgA-tTGA were recommended endoscopic duodenal biopsy to document histological changes of CD.
Nine first-degree relatives were positive for IgA-tTGA, seven underwent duodenal biopsy and four subjects had Marsh IIIa changes suggestive of CD. The prevalence of histologically confirmed CD in first-degree relatives was 4.4%. The prevalence of potential CD was 9.8%. IgA-tTGA-positive subjects (4/9) were significantly more often symptomatic than IgA-tTGA-negative first-degree relatives (2/82). Twenty-nine (96.6%) index cases of CD and all IgA-tTGA-positive first-degree relatives were positive for HLA DQ2. None of the index CD cases or first-degree relatives were HLA DQ8-positive. A total of 85% of the first-degree relatives were positive for HLA DQ2 and thus at risk of developing CD.
In this first Asian study on a limited number of families of children with CD, 4.4% of the first-degree relatives had CD. Only 15% of the first-degree relatives were negative for HLA DQ2/DQ8. Initial evaluation with HLA and serology followed by only serial serology in HLA-positive relatives is recommended.
关于乳糜泻（CD）患者一级亲属的流行率、人类白细胞抗原（HLA）分型和小肠组织学数据很少。本前瞻性研究评估了 HLA DQ2/8 检测在 CD 患儿一级亲属筛查中的作用。
共纳入 30 例确诊 CD 患儿和 91/94 名一级亲属（父母和兄弟姐妹）。对所有 CD 患儿进行 HLA DQ2/8 检测。对所有一级亲属进行临床评估，包括问卷调查、总血清免疫球蛋白 A（IgA）、人 IgA-组织转谷氨酰胺酶（IgA-tTGA）和 HLA DQ2/8 检测。对 IgA-tTGA 阳性者建议进行内镜十二指肠活检，以明确 CD 的组织学变化。
9 名一级亲属 IgA-tTGA 阳性，7 人接受了十二指肠活检，4 名患者出现了 IIIa 期改变，提示 CD。一级亲属中组织学确诊 CD 的患病率为 4.4%。潜在 CD 的患病率为 9.8%。与 IgA-tTGA 阴性的一级亲属（82 例中的 2/2）相比，IgA-tTGA 阳性的患者（4/9）更常出现症状。29 例（96.6%）CD 患儿和所有 IgA-tTGA 阳性的一级亲属均为 HLA DQ2 阳性。无一例 CD 患儿或一级亲属 HLA DQ8 阳性。一级亲属中共有 85%为 HLA DQ2 阳性，因此有发生 CD 的风险。
在这项针对 CD 患儿有限数量家庭的首个亚洲研究中，4.4%的一级亲属患有 CD。仅有 15%的一级亲属 HLA DQ2/DQ8 阴性。建议先进行 HLA 和血清学初筛，然后对 HLA 阳性的亲属进行连续血清学检查。
