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乳糜泻患儿一级亲属中的乳糜泻

Celiac disease in first degree relatives of celiac children.

作者信息

Oliveira Andreia, Trindade Eunice, Tavares Marta, Lima Rosa, Terra Mariana, Dias Jorge Amil

机构信息

Unit of Paediatric Gastroenterology, São João Hospital, Porto, Portugal.

出版信息

Arq Gastroenterol. 2012 Jul-Sep;49(3):204-7. doi: 10.1590/s0004-28032012000300007.

Abstract

CONTEXT

The first degree relatives of celiac patients represent a high risk group for the development of this disorder, so their screening may be crucial in the prevention of long-term complications.

OBJECTIVE

In order to determine the prevalence of celiac disease in a group of first degree relatives of children with proven gluten intolerance, we conducted a prospective study that consisted in the screening of celiac disease, using a capillary immunoassay rapid test that allows a qualitative detection of IgA antibody to human recombinant tissue transglutaminase (IgA-TTG).

METHODS

When the screening test was positive subjects were advised to proceed with further investigation. The screening test was performed in 268 first degree relatives (143 mothers, 89 fathers, 36 siblings) corresponding to 163 children with celiac disease.

RESULTS

Screening test was positive in 12 relatives (4.5%), of which 1 refused to continue the investigation. In the remaining 11 relatives celiac disease was diagnosed in 7 cases (2.6%, 5 mothers, 2 fathers) who had a median age of 39 years (27-56 years), mild gastrointestinal symptoms, high titre of IgA-TTG and histology abnormalities confirming the diagnosis. All these patients are currently on a gluten-free diet.

CONCLUSION

The prevalence of celiac disease among first degree relatives (2.6%) was 5 times higher than that in the general population. Although the recommendations for screening asymptomatic high risk groups, such as first degree relatives, are not unanimous the early diagnosis is crucial in preventing complications, including nutritional deficiency and cancer.

摘要

背景

乳糜泻患者的一级亲属是患此病的高危人群,因此对他们进行筛查对于预防长期并发症可能至关重要。

目的

为了确定一组经证实对麸质不耐受儿童的一级亲属中乳糜泻的患病率,我们进行了一项前瞻性研究,该研究包括使用一种能定性检测抗人重组组织转谷氨酰胺酶IgA抗体(IgA-TTG)的毛细管免疫分析快速检测法对乳糜泻进行筛查。

方法

当筛查检测呈阳性时,建议受试者进一步检查。对163名乳糜泻患儿对应的268名一级亲属(143名母亲、89名父亲、36名兄弟姐妹)进行了筛查检测。

结果

12名亲属(4.5%)筛查检测呈阳性,其中1人拒绝继续检查。在其余11名亲属中,7例(2.6%,5名母亲、2名父亲)被诊断为乳糜泻,他们的中位年龄为39岁(27 - 56岁),有轻微胃肠道症状,IgA-TTG滴度高且组织学异常确诊。所有这些患者目前都在接受无麸质饮食。

结论

一级亲属中乳糜泻的患病率(2.6%)比普通人群高5倍。尽管对于筛查无症状高危人群(如一级亲属)的建议并不一致,但早期诊断对于预防包括营养缺乏和癌症在内的并发症至关重要。

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