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Prospective human leukocyte antigen, endomysium immunoglobulin A antibodies, and transglutaminase antibodies testing for celiac disease in children with Down syndrome.
J Pediatr 2009; 154(2):239-42JPed

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).

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.

Authors+Show Affiliations

Department of Pediatrics and Infectious Diseases, VU University Medical Center, Amsterdam, The Netherlands.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

18822429

Citation

Wouters, Jeroen, et al. "Prospective Human Leukocyte Antigen, Endomysium Immunoglobulin a Antibodies, and Transglutaminase Antibodies Testing for Celiac Disease in Children With Down Syndrome." The Journal of Pediatrics, vol. 154, no. 2, 2009, pp. 239-42.
Wouters J, Weijerman ME, van Furth AM, et al. Prospective human leukocyte antigen, endomysium immunoglobulin A antibodies, and transglutaminase antibodies testing for celiac disease in children with Down syndrome. J Pediatr. 2009;154(2):239-42.
Wouters, J., Weijerman, M. E., van Furth, A. M., Schreurs, M. W., Crusius, J. B., von Blomberg, B. M., ... Gemke, R. J. (2009). Prospective human leukocyte antigen, endomysium immunoglobulin A antibodies, and transglutaminase antibodies testing for celiac disease in children with Down syndrome. The Journal of Pediatrics, 154(2), pp. 239-42. doi:10.1016/j.jpeds.2008.08.007.
Wouters J, et al. Prospective Human Leukocyte Antigen, Endomysium Immunoglobulin a Antibodies, and Transglutaminase Antibodies Testing for Celiac Disease in Children With Down Syndrome. J Pediatr. 2009;154(2):239-42. PubMed PMID: 18822429.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Prospective human leukocyte antigen, endomysium immunoglobulin A antibodies, and transglutaminase antibodies testing for celiac disease in children with Down syndrome. AU - Wouters,Jeroen, AU - Weijerman,Michel E, AU - van Furth,A Marceline, AU - Schreurs,Marco W J, AU - Crusius,J Bart A, AU - von Blomberg,B Mary E, AU - de Baaij,Laura R, AU - Broers,Chantal J M, AU - Gemke,Reinoud J B J, Y1 - 2008/09/25/ PY - 2008/04/07/received PY - 2008/06/10/revised PY - 2008/08/05/accepted PY - 2008/9/30/pubmed PY - 2009/2/12/medline PY - 2008/9/30/entrez SP - 239 EP - 42 JF - The Journal of pediatrics JO - J. Pediatr. VL - 154 IS - 2 N2 - 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. SN - 1097-6833 UR - https://www.unboundmedicine.com/medline/citation/18822429/Prospective_human_leukocyte_antigen_endomysium_immunoglobulin_A_antibodies_and_transglutaminase_antibodies_testing_for_celiac_disease_in_children_with_Down_syndrome_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0022-3476(08)00681-1 DB - PRIME DP - Unbound Medicine ER -