[Study of celiac disease in the pediatric population of Cantabria (Spain) and first-degree relatives].
BACKGROUND
Celiac disease (CD) is an autoimmune disease that affects genetically predisposed individuals. The HLA-DQ2 heterodimer is present in nearly 90% of patients while HLA-DQ8 is found in the remaining 10%.


OBJECTIVE
To study the characteristics of CD in pediatric patients in Cantabria and their first-degree relatives, with special emphasis on factors related to haplotype, serology, and forms of clinical presentation.


METHODS
Eighty-six patients with CD and 215 first-degree relatives were HLA genotyped. Clinical, laboratory, immunologic, and histological data were obtained from all patients.


RESULTS
Clinical presentation was classical in 95% of the patients and mono-symptomatic in the remaining 5%. Anti-gliadin antibodies (AGA) and anti-transglutaminase antibodies (ATGA) were positive in 95% of the patients and negative in 5% (all with IgA deficiency). DQ2 was found in 71% of the patients (homozygotes or heterozygotes) and DQ8 was found in 9.5%. No heterodimers of risk were found in 22%. CD was found in six relatives (three were positive for AGA and four were positive for ATGA). Forty-nine percent of the relatives carried the DQ2 heterodimer and 15% the DQ8 heterodimer; no heterodimers of risk were found in 40%.


CONCLUSIONS
The most prevalent HLA found in patients with CD in the autonomous region of Cantabria was DQ2 (71%). This prevalence is clearly lower than that reported in other Spanish regions. The prevalence of CD among first-degree relatives was similar to that found in other studies performed in Spain (2.8%). Our data support the need for systematic study of the first-degree relatives of patients with CD.
Díaz de Entresotos Villazán
Lucía
L
Sección de Gastroenterología Infantil. Hospital Universitario Marqués de Valdecilla. Santander. Cantabria. España. identresotos@yahoo.es
de la Rubia Fernández
Luis
L
López Hoyos
Marcos
M
Ruiz de Alegría
Carlos
C
Sánchez Velasco
Pablo
P
Fernández García
Pedro
P
D000293:Adolescent; D000328:Adult; D001323:Autoantibodies / Q000097:blood / Q000276:immunology; D002446:Celiac Disease / Q000453:epidemiology* / Q000235:genetics / Q000276:immunology; D002648:Child; D002675:Child, Preschool; D019281:Dimerization; D005260:Female; D005787:Gene Frequency; D005802:Genes, MHC Class II; D020022:Genetic Predisposition to Disease; D005838:Genotype; D005903:Gliadin / Q000276:immunology; D006683:HLA-DQ Antigens / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D010290:Parents; D055503:Protein Multimerization; D012189:Retrospective Studies; D035781:Siblings; D013030:Spain / Q000453:epidemiology; D011503:Transglutaminases / Q000276:immunology
D001323:Autoantibodies; D006683:HLA-DQ Antigens; C053186:HLA-DQ2 antigen; C109756:HLA-DQ8 antigen; D005903:Gliadin; D011503:Transglutaminases