乳糜泻患儿兄弟姐妹中乳糜泻的发病率及HLA-DQ2/DQ8单倍型分布情况
Frequency of celiac disease and distribution of HLA-DQ2/DQ8 haplotypes among siblings of children with celiac disease.
作者信息
Sahin Yasin, Mermer Serdar
机构信息
Department of Pediatric Gastroenterology, Mersin Training and Research Hospital, Mersin 33240, Mersin, Turkey.
Department of Medical Genetics, Mersin Training and Research Hospital, Mersin 33240, Mersin, Turkey.
出版信息
World J Clin Pediatr. 2022 Jul 9;11(4):351-359. doi: 10.5409/wjcp.v11.i4.351.
BACKGROUND
Celiac disease (CD) is a multifactorial disease, but genetic factors play a major role in its etiology. It has been known that human leucocyte antigen (HLA)-DQ2/DQ8 haplotypes are one of the most important predisposing genetic factors. The risk of developing CD in first-degree relatives and especially siblings of celiac patients is quite high because of having the same HLA haplotypes.
AIM
To evaluate the frequency of CD and the distribution of the HLA-DQ2/DQ8 haplotypes in siblings of celiac patients.
METHODS
Patients with biopsy-proven CD and their siblings were included in the study; those who did not have HLA genotyping were excluded from the study. All siblings were on a gluten-containing diet. The HLA genotyping, tissue transglutaminase antibody IgA antibody test, and total IgA test were performed in all participants.
RESULTS
A total of 57 celiac patients and their 112 siblings were included in the study. The mean age of celiac patients and siblings were 10.30 ± 3.87 years and 9.90 ± 6.11 years, respectively. HLA-DQ2/DQ8 alleles were detected in 98.2% of patients with CD and 90.2% of siblings of celiac patients. HLA-DQ genotypes were present in all siblings diagnosed with CD. Tissue transglutaminase antibody IgA test was found to be positive in 16 siblings. CD was diagnosed in 12 siblings (10.7%) by intestinal biopsy.
CONCLUSION
The prevalence of CD was found to be 10.7% in siblings of celiac patients in our study. One-third of the siblings diagnosed with CD were asymptomatic. We detected HLA-DQ alleles in 98.2% of celiac patients and 100% in siblings diagnosed with CD. In addition, 1 of the 2 siblings was diagnosed with CD 1 year later and the other 4 years later. Therefore, we suggest that siblings of celiac patients should be followed up with clinical findings as well as HLA analysis and serological examination. Since the risk of developing CD is much higher in asymptomatic siblings, we recommend that siblings should be screened for CD even if they are asymptomatic.
背景
乳糜泻（CD）是一种多因素疾病，但遗传因素在其病因中起主要作用。已知人类白细胞抗原（HLA）-DQ2/DQ8单倍型是最重要的易感遗传因素之一。由于具有相同的HLA单倍型，乳糜泻患者的一级亲属尤其是兄弟姐妹患CD的风险相当高。
目的
评估乳糜泻患者兄弟姐妹中CD的发生率以及HLA-DQ2/DQ8单倍型的分布情况。
方法
经活检证实为CD的患者及其兄弟姐妹纳入本研究；未进行HLA基因分型的患者被排除在研究之外。所有兄弟姐妹均采用含麸质饮食。对所有参与者进行HLA基因分型、组织转谷氨酰胺酶抗体IgA抗体检测和总IgA检测。
结果
本研究共纳入57例乳糜泻患者及其112名兄弟姐妹。乳糜泻患者及其兄弟姐妹的平均年龄分别为10.30±3.87岁和9.90±6.11岁。98.2%的CD患者和90.2%的乳糜泻患者兄弟姐妹检测到HLA-DQ2/DQ8等位基因。所有诊断为CD的兄弟姐妹均存在HLA-DQ基因型。16名兄弟姐妹的组织转谷氨酰胺酶抗体IgA检测呈阳性。通过肠道活检诊断出12名兄弟姐妹（10.7%）患有CD。
结论
在我们的研究中，乳糜泻患者的兄弟姐妹中CD的患病率为10.7%。诊断为CD的兄弟姐妹中有三分之一无症状。我们在98.2%的乳糜泻患者和100%诊断为CD的兄弟姐妹中检测到HLA-DQ等位基因。此外，2名兄弟姐妹中的1名在1年后被诊断为CD，另1名在4年后被诊断为CD。因此，我们建议对乳糜泻患者的兄弟姐妹进行临床检查、HLA分析和血清学检查随访。由于无症状的兄弟姐妹患CD的风险要高得多，我们建议即使兄弟姐妹无症状也应进行CD筛查。
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