Shamaly Hussein, Hartman Corina, Pollack Shimon, Hujerat Mohammad, Katz Rina, Gideoni Osnat, Shamir Raanan
Pediatric Gastroenterology and Nutrition, Meyer's Children Hospital, Haifa, Israel.
J Pediatr Gastroenterol Nutr. 2007 May;44(5):583-6. doi: 10.1097/MPG.0b013e3180320679.
Celiac disease (CD) is overrepresented among patients with Down syndrome (DS), who frequently lack any typical symptoms. Therefore, screening for CD is recommended in this high-risk group. The aim of the study was to determine the prevalence of CD in Arab children with DS and evaluate the contribution of immunoglobulin (Ig) A and IgG anti-gliadin antibodies (AGA), IgA and IgG tissue transglutaminase (TTG) antibodies, and IgA anti-endomysial antibodies (EMA) to screen for CD in children with DS.
A total of 52 Arab patients with DS and 52 healthy Arab control subjects were studied for CD using various serological markers. Data on age, sex, weight, height, gastrointestinal symptoms, and endocrine abnormalities were recorded. Human leukocyte antigen (HLA) was studied in patients undergoing small intestinal biopsy.
Five patients with DS were IgA TTG-positive and only 1 patient with DS was IgG TTG-positive. EMA was negative in all patients with DS. TTG (IgA and IgG) and EMA were negative in all control children. IgA AGA was positive in 12 patients with DS and 3 control subjects (P = 0.02), whereas IgG AGA was positive in 41 patients with DS and 26 control subjects (P = 0.004). Only children testing positive for TTG underwent upper endoscopy with duodenal biopsy. Two children with DS were diagnosed with CD. Both patients were IgA TTG-positive. One was HLA DQ2-positive and another was negative for HLA DQ2 and DQ8.
CD is prevalent (3.8%) in Arab patients with DS. Based on our cohort, IgA TTG is useful in diagnosing patients with CD and DS.
唐氏综合征（DS）患者中乳糜泻（CD）的发病率较高，且这些患者常常没有任何典型症状。因此，建议对这一高危群体进行CD筛查。本研究的目的是确定阿拉伯DS儿童中CD的患病率，并评估免疫球蛋白（Ig）A和IgG抗麦醇溶蛋白抗体（AGA）、IgA和IgG组织转谷氨酰胺酶（TTG）抗体以及IgA抗肌内膜抗体（EMA）对DS儿童CD筛查的作用。
共对52例阿拉伯DS患者和52例健康阿拉伯对照者进行了CD相关的各种血清学标志物检测。记录了年龄、性别、体重、身高、胃肠道症状和内分泌异常等数据。对接受小肠活检的患者进行了人类白细胞抗原（HLA）研究。
5例DS患者IgA TTG呈阳性，仅1例DS患者IgG TTG呈阳性。所有DS患者的EMA均为阴性。所有对照儿童的TTG（IgA和IgG）及EMA均为阴性。12例DS患者和3例对照者的IgA AGA呈阳性（P = 0.02），而41例DS患者和26例对照者的IgG AGA呈阳性（P = 0.004）。只有TTG检测呈阳性的儿童接受了十二指肠活检的上消化道内镜检查。2例DS儿童被诊断为CD。两名患者IgA TTG均呈阳性。1例为HLA DQ2阳性，另1例HLA DQ2和DQ8均为阴性。
阿拉伯DS患者中CD患病率为3.8%。基于我们的队列研究，IgA TTG有助于诊断DS合并CD的患者。
