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Screening for celiac disease in Down’s syndrome patients revealed cases of subtotal villous atrophy without typical for celiFac disease HLA-DQ and tissue transglutaminase antibodies
- Publication Year :
- 2006
- Publisher :
- Baishideng Publishing Group Co., Limited, 2006.
-
Abstract
- AIM: To investigate the prevalence of celiac disease (CD) as well as CD marker antibodies and susceptibility HLA-DQ haplotypes in 134 karyotyped Down’s syndrome (DS) patients. METHODS: Immunoglobulin A (IgA) and G (IgG) type anti-gliadin antibodies (AGA), IgA type anti-tissue transglutaminase (tTG) antibodies (anti-tTG) with antigen of guinea pig and human source were determined by enzyme-linked immunosorbent assay and endomysium antibodies (EMA) by indirect immunofluoresence test. HLA-DQA1*0501/DQB1*0201 (DQ2) was revealed by polymerase chain reaction. Celiac disease was diagnosed by revised ESPGHAN criteria. RESULTS: 41 % of DS patients had AGA, 6.0 % IgA anti-tTG with guinea pig antigen, and 3.0 % IgA EMA (all positive for anti-tTG with human tTG). Subtotal villous atrophy was found in 5 out of 9 DS patients who had agreed to small bowel biopsy. One of them had DQA1*0501/DQB1*0201 and anti-tTG and EMA i.e. typical for CD markers (this case also fulfilled the ESPGHAN diagnostic criteria), but other four lacked these markers. Three non-biopsied DS patients had also most probably CD because DQA1*0501/DQB1*0201 and IgA anti-tTG (EMA) were detected. Thus, the prevalence of CD among our DS patients population is 3.0 % (95 % of confidence interval [CI]: 0.1-5.9 %). CONCLUSION: We confirm the increased frequency of CD among DS patients. In addition, we have revealed a subgroup of patients with subtotal villous atrophy but without characteristic for CD immunological and genetic markers. Whether these cases represent CD (with atypical immunopathogenesis) or some other immune enteropathy, requires further investigations.
- Subjects :
- Immunoglobulin A
Adult
Male
Pathology
medicine.medical_specialty
Down syndrome
Adolescent
Tissue transglutaminase
Population
Enzyme-Linked Immunosorbent Assay
Polymerase Chain Reaction
HLA-DQ Antigens
HLA-DQ
medicine
Humans
Enteropathy
Genetic Testing
Villous atrophy
education
Child
Cecum
Autoantibodies
education.field_of_study
Transglutaminases
biology
Gastroenterology
Infant
General Medicine
Middle Aged
Endomysium
medicine.disease
Celiac Disease
medicine.anatomical_structure
Haplotypes
Child, Preschool
Karyotyping
biology.protein
Female
Atrophy
Down Syndrome
Rapid Communication
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Accession number :
- edsair.doi.dedup.....604f10de812616e565702eded72026f6