Subject(s)
Skin Diseases , Humans , Skin Diseases/diagnosis , Skin Diseases/pathology , Skin/pathologyABSTRACT
No disponible
Subject(s)
Humans , Male , Child , Eosinophilic Esophagitis/diagnostic imaging , Eosinophilic Esophagitis/drug therapy , Eosinophilic Esophagitis/history , Food Hypersensitivity , Deglutition DisordersABSTRACT
No disponible
Subject(s)
Humans , Infant , Lymphangiectasis, Intestinal/drug therapy , Reproducibility of Results , Diet Therapy/methods , Lymphangiectasis, Intestinal/diagnostic imaging , Agammaglobulinemia/diagnosisABSTRACT
No disponible
Subject(s)
Humans , Male , Female , Pregnancy , Infant, Newborn , Adult , Phenylketonuria, Maternal/diagnosis , Fused Kidney/diagnosis , Ultrasonography, Prenatal , Neonatal Screening/methods , Kidney/diagnostic imaging , Fused Kidney/etiologySubject(s)
Fused Kidney/diagnosis , Phenylketonuria, Maternal/diagnosis , Adult , Female , Fused Kidney/etiology , Humans , Infant, Newborn , Male , PregnancyABSTRACT
BACKGROUND AND OBJECTIVES: celiac disease is associated with the HLA class II alleles: DQA1*05-DQB1*02 and DQB1*0302. The genetic risk for celiac disease may depend on the presence or absence of such alleles, their combination or number of copies. This study aimed to establish the differences in HLA genotypes between celiac patients diagnosed during childhood and adulthood, and between patients and healthy controls, and to determine the risk of disease in each genotypic category. METHODS: we classified 350 celiac patients at time of diagnosis and 218 controls into 14 categories according to their HLA genotype, based on the presence or absence of risk alleles. RESULTS: we found statistically significant differences between the genotype frequencies of celiac patients diagnosed as being children and adults. DQA1*05 (x 1 copy), DQB1*02 (x 1 copy), DQB1*0302 (x 0 copies) was the most frequent genotype in individuals diagnosed in childhood, whereas DQA1*05 (x 1 copy), DQB1*02 (x 2 copies), DQB1*0302 (x 0 copies) was the most frequent in adults. The risk for disease in each genotypic category in celiac children and adults turned out to be different. The presence of DQB1*0302 did not increase risk in children, but did in adults. CONCLUSION: in our celiac population, we found a different genetic pattern according to age of diagnosis. That could suggest that the pathogenic mechanism of the disease is not exactly the same in both age groups, which could somehow determine clinical presentation of the disease, its epidemiology, coexisting diseases, and complications.
Subject(s)
Celiac Disease/diagnosis , Celiac Disease/genetics , HLA-DQ Antigens/genetics , Adolescent , Adult , Age of Onset , Aged , Alleles , Case-Control Studies , Celiac Disease/epidemiology , Child , Female , Genotype , Humans , Male , Middle Aged , Risk Assessment , Spain/epidemiology , Young AdultABSTRACT
Background and objectives: celiac disease is associated with the HLA class II alleles: DQA1*05-DQB1*02 and DQB1*0302. The genetic risk for celiac disease may depend on the presence or absence of such alleles, their combination or number of copies. This study aimed to establish the differences in HLA genotypes between celiac patients diagnosed during childhood and adulthood, and between patients and healthy controls, and to determine the risk of disease in each genotypic category. Methods: we classified 350 celiac patients at time of diagnosis and 218 controls into 14 categories according to their HLA genotype, based on the presence or absence of risk alleles. Results: we found statistically significant differences between the genotype frequencies of celiac patients diagnosed as being children and adults. DQA1*05 (x 1 copy), DQB1*02 (x 1 copy), DQB1*0302 (x 0 copies) was the most frequent genotype in individuals diagnosed in childhood, whereas DQA1*05 (x 1 copy), DQB1*02 (x 2 copies), DQB1*0302 (x 0 copies) was the most frequent in adults. The risk for disease in each genotypic category in celiac children and adults turned out to be different. The presence of DQB1*0302 did not increase risk in children, but did in adults. Conclusion: in our celiac population, we found a different genetic pattern according to age of diagnosis. That could suggest that the pathogenic mechanism of the disease is not exactly the same in both age groups, which could somehow determine clinical presentation of the disease, its epidemiology, coexisting diseases, and complications (AU)
