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印度北部一家三级医疗中心一级亲属中乳糜泻的HLA谱

HLA Profile of Celiac Disease among First-Degree Relatives from a Tertiary Care Center in North India.

作者信息

Singla Shilpy, Kumar Praveen, Singh Preeti, Kaur Gurvinder, Rohtagi Anurag, Choudhury Monisha

机构信息

Department of Pediatrics, Lady Hardinge Medical College and Kalawati Saran Children's Hospital, New Delhi, 110001, India.

Department of Transplant Immunology & Immunogenetics, All India Institute of Medical Sciences, New Delhi, India.

出版信息

Indian J Pediatr. 2016 Nov;83(11):1248-1252. doi: 10.1007/s12098-016-2146-7. Epub 2016 Jun 6.

Abstract

OBJECTIVE

To study the prevalence of Celiac disease (CD) in first-degree relatives (FDR) of CD children.

METHODS

This observational study was performed in FDR (parents and siblings) of consecutive newly diagnosed cases of CD enrolled from January 2011 through March 2012. Screening for CD in FDR was done using IgA tissue transglutaminase (tTG) levels in serum and the seropositive subset underwent upper gastrointestinal (UGI) endoscopy and biopsy to confirm the disease. In addition, HLA analysis for CD was performed in most of the index cases and FDR.

RESULTS

Of 202 FDR of the 64 index cases with CD, 17.3 % (35/202) were seropositive for IgA tTG while confirmed biopsy proven CD was diagnosed in 10.2 % (8/78) of children and 8.1 % (10/124) of adults. HLA DQ2/DQ8 was positive in 96.7 % of the index cases and all FDR with confirmed CD.

CONCLUSIONS

The prevalence of CD among FDR is 9 fold higher than the general population. High prevalence of CD in presence of anemia and short stature in seropositive FDR in index study indicates need of targeted screening of this subgroup for the presence of CD.CD is unlikely in the absence of HLADQ2/DQ8.

摘要

目的

研究乳糜泻(CD)患儿一级亲属(FDR)中乳糜泻的患病率。

方法

本观察性研究针对2011年1月至2012年3月连续纳入的新诊断CD病例的FDR(父母和兄弟姐妹)进行。采用血清中IgA组织转谷氨酰胺酶(tTG)水平对FDR进行CD筛查,血清学阳性亚组接受上消化道(UGI)内镜检查和活检以确诊疾病。此外,对大多数索引病例和FDR进行了CD的HLA分析。

结果

在64例CD索引病例的202名FDR中,17.3%(35/202)的IgA tTG血清学阳性,而经活检证实的CD在10.2%(8/78)的儿童和8.1%(10/124)的成人中被诊断出来。96.7%的索引病例以及所有经确诊的CD FDR的HLA DQ2/DQ8呈阳性。

结论

FDR中CD的患病率比普通人群高9倍。索引研究中血清学阳性FDR出现贫血和身材矮小情况时CD的高患病率表明需要对该亚组进行针对性的CD筛查。若无HLA DQ2/DQ8,则患CD的可能性不大。

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