title: Prospective human leukocyte antigen, endomysium immunoglobulin A antibodies, and transglutaminase antibodies testing for celiac disease in children with Down syndrome.
abstract: OBJECTIVE
  To assess the effect of a prospective screening strategy for the early diagnosis of celiac disease (CD) in children with Down syndrome (DS).
  
  
  METHODS
  Blood samples were taken from 155 children with DS. Buccal swabs were also taken from 9 of these children for determination of human leukocyte antigen (HLA)-DQ2 or HLA-DQ8 positivity. Independently, immunoglobulin A anti-endomysium-(EMA) and anti-tissue transglutaminase antibodies (TGA) were tested. An intestinal biopsy was performed to confirm the diagnosis of CD.
  
  
  RESULTS
  Sixty-three children (40.6%) had test results that were positive for HLA-DQ2 or HLA-DQ8. Results of HLA DQ-typing of DNA isolated from blood and buccal swabs were identical. Eight of the children in whom test results were positive for HLA-DQ2/8 also had positive test results for EMA and TGA. CD was confirmed in 7 of these children with an intestinal biopsy, and in 1 child, CD was suggested with improvement on a gluten-free diet.
  
  
  CONCLUSIONS
  We found a prevalence of CD in children with DS of 5.2% (10 times higher than the general Dutch population). We recommend HLA-DQ2/8 typing from buccal swabs in the first year of life and initiating serologic screening of children with DS in whom test results are positive for HLA-DQ2 or DQ8 at age 3 years. Early knowledge of negative HLA-DQ2/8 status can reassure most parents that their children do not have a CD risk.
authors.affiliation: Department of Pediatrics and Infectious Diseases, VU University Medical Center, Amsterdam, The Netherlands.
authors.forename: Jeroen
authors.initials: J
authors.lastname: Wouters
authors.forename: Michel E
authors.initials: ME
authors.lastname: Weijerman
authors.forename: A Marceline
authors.initials: AM
authors.lastname: van Furth
authors.forename: Marco W J
authors.initials: MW
authors.lastname: Schreurs
authors.forename: J Bart A
authors.initials: JB
authors.lastname: Crusius
authors.forename: B Mary E
authors.initials: BM
authors.lastname: von Blomberg
authors.forename: Laura R
authors.initials: LR
authors.lastname: de Baaij
authors.forename: Chantal J M
authors.initials: CJ
authors.lastname: Broers
authors.forename: Reinoud J B J
authors.initials: RJ
authors.lastname: Gemke
mesh_terms: D000293:Adolescent; D000328:Adult; D001323:Autoantibodies / Q000097:blood*; D001706:Biopsy; D002446:Celiac Disease / Q000175:diagnosis* / Q000276:immunology; D002648:Child; D002675:Child, Preschool; D004314:Down Syndrome / Q000150:complications* / Q000235:genetics; D004386:Duodenum / Q000473:pathology; D042241:Early Diagnosis; D005240:Feasibility Studies; D005260:Female; D006680:HLA Antigens / Q000097:blood*; D006683:HLA-DQ Antigens / Q000097:blood; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007070:Immunoglobulin A / Q000276:immunology*; D007223:Infant; D007413:Intestinal Mucosa / Q000473:pathology; D008297:Male; D008403:Mass Screening; D011446:Prospective Studies; D011503:Transglutaminases / Q000276:immunology*; D055815:Young Adult
chemical_list: D001323:Autoantibodies; D006680:HLA Antigens; D006683:HLA-DQ Antigens; C053186:HLA-DQ2 antigen; C109756:HLA-DQ8 antigen; D007070:Immunoglobulin A; D011503:Transglutaminases