PMID- 18822429
OWN - NLM
STAT- MEDLINE
DCOM- 20090210
LR  - 20220311
IS  - 1097-6833 (Electronic)
IS  - 0022-3476 (Linking)
VI  - 154
IP  - 2
DP  - 2009 Feb
TI  - Prospective human leukocyte antigen, endomysium immunoglobulin A antibodies, and 
      transglutaminase antibodies testing for celiac disease in children with Down 
      syndrome.
PG  - 239-42
LID - 10.1016/j.jpeds.2008.08.007 [doi]
AB  - OBJECTIVE: To assess the effect of a prospective screening strategy for the early 
      diagnosis of celiac disease (CD) in children with Down syndrome (DS). STUDY 
      DESIGN: 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.
FAU - Wouters, Jeroen
AU  - Wouters J
AD  - Department of Pediatrics and Infectious Diseases, VU University Medical Center, 
      Amsterdam, The Netherlands.
FAU - Weijerman, Michel E
AU  - Weijerman ME
FAU - van Furth, A Marceline
AU  - van Furth AM
FAU - Schreurs, Marco W J
AU  - Schreurs MW
FAU - Crusius, J Bart A
AU  - Crusius JB
FAU - von Blomberg, B Mary E
AU  - von Blomberg BM
FAU - de Baaij, Laura R
AU  - de Baaij LR
FAU - Broers, Chantal J M
AU  - Broers CJ
FAU - Gemke, Reinoud J B J
AU  - Gemke RJ
LA  - eng
PT  - Journal Article
DEP - 20080925
PL  - United States
TA  - J Pediatr
JT  - The Journal of pediatrics
JID - 0375410
RN  - 0 (Autoantibodies)
RN  - 0 (HLA Antigens)
RN  - 0 (HLA-DQ Antigens)
RN  - 0 (HLA-DQ2 antigen)
RN  - 0 (HLA-DQ8 antigen)
RN  - 0 (Immunoglobulin A)
RN  - EC 2.3.2.13 (Transglutaminases)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Autoantibodies/*blood
MH  - Biopsy
MH  - Celiac Disease/*diagnosis/immunology
MH  - Child
MH  - Child, Preschool
MH  - Down Syndrome/*complications/genetics
MH  - Duodenum/pathology
MH  - Early Diagnosis
MH  - Feasibility Studies
MH  - Female
MH  - HLA Antigens/*blood
MH  - HLA-DQ Antigens/blood
MH  - Heterozygote
MH  - Homozygote
MH  - Humans
MH  - Immunoglobulin A/*immunology
MH  - Infant
MH  - Intestinal Mucosa/pathology
MH  - Male
MH  - Mass Screening
MH  - Prospective Studies
MH  - Transglutaminases/*immunology
MH  - Young Adult
EDAT- 2008/09/30 09:00
MHDA- 2009/02/12 09:00
CRDT- 2008/09/30 09:00
PHST- 2008/04/07 00:00 [received]
PHST- 2008/06/10 00:00 [revised]
PHST- 2008/08/05 00:00 [accepted]
PHST- 2008/09/30 09:00 [pubmed]
PHST- 2009/02/12 09:00 [medline]
PHST- 2008/09/30 09:00 [entrez]
AID - S0022-3476(08)00681-1 [pii]
AID - 10.1016/j.jpeds.2008.08.007 [doi]
PST - ppublish
SO  - J Pediatr. 2009 Feb;154(2):239-42. doi: 10.1016/j.jpeds.2008.08.007. Epub 2008 
      Sep 25.