Szałowska-Woźniak Dorota A, Bąk-Romaniszyn Leokadia, Cywińska-Bernas Agnieszka, Zeman Krzysztof
Department of Pediatrics, Preventive Cardiology and Clinical Immunology, Medical University of Lodz, Poland.
Department of Nutrition in Gastrointestinal Disease, Medical University of Lodz, Poland ; Department of Pediatrics, Immunology and Nephrology, Polish Mothers Memorial Hospital Research Institute, Lodz, Poland.
Prz Gastroenterol. 2014;9(1):32-7. doi: 10.5114/pg.2014.40848. Epub 2014 Mar 1.
Celiac disease (CD) is a permanent intolerance to gluten that occurs in genetically predisposed individuals and leads to small intestinal mucosa damage. According to ESPGHAN guidelines from 2012, CD can be diagnosed in a patient with characteristic clinical symptoms, in whom, anti-tissue transglutaminase antibodies (> 10 times the upper limit) are found, endomysial antibodies (EMA) is confirmed and a positive genetic test is obtained. In these conditions no small-bowel biopsies are required.
Evaluation of the presence of HLA-DQ2 and HLA-DQ8 haplotypes in children with previously diagnosed CD, hospitalised in 2012 at the Department of Paediatrics and Immunology and/or the Gastroenterological Outpatient Clinic, and their relatives.
Blood samples of 22 subjects, including 9 children with CD diagnosed on the basis of clinical symptoms, serological investigations and small-intestine biopsy, 7 diagnosed on the basis of clinical symptoms and serological investigations, 2 with the suspicion of CD on the basis of clinical symptoms and 4 relatives of a child with CD.
HLA-DQ2/DQ8 test, automatic evaluation by EUROArrayScan.
The presence of HLA-DQ2 and/or HLA-DQ8 genotype was confirmed in 16 children with CD diagnosed on the basis of clinical symptoms and serological tests with/without intestinal biopsy, in 2 with the suspicion of CD and in 1 relative of a celiac child.
The evaluation of HLA-DQ2/DQ8 haplotype confirms the genetic predisposition to CD in subjects with the disease diagnosed previously on the basis of clinical symptoms, serological tests or intestinal biopsy. Genetic testing is particularly indicated for the diagnosis of CD in infants consuming gluten for a short time and in small amounts.
乳糜泻（CD）是一种发生于遗传易感性个体的对麸质的永久性不耐受，会导致小肠黏膜损伤。根据2012年欧洲儿科胃肠病、肝病和营养学会（ESPGHAN）指南，对于具有特征性临床症状、抗组织转谷氨酰胺酶抗体（>正常上限10倍）阳性、肌内膜抗体（EMA）确诊且基因检测呈阳性的患者，可诊断为CD。在这些情况下无需进行小肠活检。
评估2012年在儿科与免疫学系和/或胃肠病门诊住院的先前诊断为CD的儿童及其亲属中HLA - DQ2和HLA - DQ8单倍型的存在情况。
22名受试者的血样，包括9名根据临床症状、血清学检查和小肠活检诊断为CD的儿童，7名根据临床症状和血清学检查诊断的儿童，2名基于临床症状疑似患有CD的儿童以及1名CD患儿的亲属。
采用EUROArrayScan进行HLA - DQ2/DQ8检测及自动评估。
在16名根据临床症状和血清学检查诊断为CD（无论是否进行肠活检）的儿童、2名疑似CD的儿童以及1名CD患儿的亲属中，确认存在HLA - DQ2和/或HLA - DQ8基因型。
对HLA - DQ2/DQ8单倍型的评估证实了先前基于临床症状、血清学检查或肠活检诊断为CD的受试者对CD的遗传易感性。基因检测对于诊断短期少量摄入麸质的婴儿的CD尤为适用。
