RESUMO
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.
Assuntos
Autoanticorpos/sangue , Doença Celíaca/diagnóstico , Síndrome de Down/complicações , Antígenos HLA/sangue , Imunoglobulina A/imunologia , Transglutaminases/imunologia , Adolescente , Adulto , Biópsia , Doença Celíaca/imunologia , Criança , Pré-Escolar , Síndrome de Down/genética , Duodeno/patologia , Diagnóstico Precoce , Estudos de Viabilidade , Feminino , Antígenos HLA-DQ/sangue , Heterozigoto , Homozigoto , Humanos , Lactente , Mucosa Intestinal/patologia , Masculino , Programas de Rastreamento , Estudos Prospectivos , Adulto JovemRESUMO
OBJECTIVES: To investigate the best approach to screen for celiac disease (CD) in patients with Down syndrome (DS). STUDY DESIGN: One hundred thirty-seven children with DS were followed up longitudinally. CD screening was offered in 1994, 1996, and 1999 by determination of serum immunoglobulin A-anti-endomysium antibodies (AEA). The HLA-DQA1*0501/DQB1*02 allelic combination known to be strongly positively associated with CD was typed. All IgA-AEA-positive children were given the opportunity to undergo a small bowel biopsy: if villous atrophy was found, the diagnosis of CD was established. RESULTS: CD was diagnosed in 11 (8%) children: 8 in 1994 and 3 in 1996. All of them carried the HLA-DQ alleles associated with CD. The presence of symptoms was not useful in discriminating which children could have CD. CONCLUSIONS: Screening once in a lifetime is not enough to detect CD in patients with DS. We propose a new, accurate, and cost-sparing 2-step strategy for screening, based on selection of the individuals with potential CD by HLA-DQ typing and on longitudinal serologic CD screening in this selected group.
Assuntos
Doença Celíaca/complicações , Doença Celíaca/diagnóstico , Síndrome de Down/complicações , Programas de Rastreamento/economia , Alelos , Atrofia/patologia , Biópsia , Doença Celíaca/dietoterapia , Criança , Análise Custo-Benefício , Ensaio de Imunoadsorção Enzimática , Seguimentos , Glutens/efeitos adversos , Antígenos HLA-DQ/sangue , Antígenos HLA-DQ/imunologia , Humanos , Deficiência de IgA/diagnóstico , Imunoglobulina A/sangue , Imunoglobulina G/sangue , Intestino Delgado/patologia , Transglutaminases/metabolismoRESUMO
We screened 115 children with Down syndrome for celiac disease, using antigliadin, antiendomysium, and antireticulin serum antibodies and an intestinal permeability test. Celiac disease was diagnosed in eight children, giving a frequency of 7.0%. We recommend screening for celiac disease in all persons with Down syndrome, with the use of at least the antiendomysium antibody determination.