ABSTRACT Objective To evaluate the frequency of DQ2.5 and DQ8 alleles using the Tag-single-nucleotide polymorphism (Tag-SNP) technique in individuals with type 1 diabetes mellitus (T1DM) and celiac disease (CD) in southern Brazil. Materials and methods In a prospective design, we performed the search for DQA1*0501 and DQB1*0201 alleles for DQ2.5 and DQB1*0302 for DQ8 through Real-Time Polymerase Chain Reaction (RT-PCR) technique, using TaqMan Genotyping Assays (Applied Biosystems, USA). The diagnosis of CD was established by duodenal biopsy and genotypic determination performed by StepOne Software v2.3. Allelic and genotypic frequencies were compared between groups using Chi-square and Fisher’s exact tests and the multiple comparisons using Finner’s adjustment. Results Three hundred and sixty two patients with a median age of 14 years were divided into 3 groups: T1DM without CD (264); T1DM with CD (32) and CD without T1DM (66). In 97% of individuals with T1DM and CD and 76% of individuals with CD without T1DM, respectively, the alleles DQ2.5 and/or DQ8 were identified (p < 0.001). DQ2.5 was more common in individuals with CD (p = 0.004) and DQ8 was more common in individuals with type 1 diabetes (p = 0.008). Conclusions The evaluation of the alleles for DQ2.5 and DQ8 by Tag-SNP technique showed a high negative predictive value among those with T1DM, similar to that described by the conventional technique. The high frequency of DQ8 alleles in individuals with T1DM did not allow differentiating those at higher risk of developing T1DM.

OBJETIVO: verificar os níveis plasmáticos de vitamina D de pacientes colestáticos crônicos e relacionar com estado nutricional, tempo de colestase e uso de suplemento vitamínico. MÉTODOS: estudo transversal controlado, cujo fator em estudo é colestase crônica e o desfecho, o nível plasmático de vitamina D. Pacientes entre quatro meses a 18 anos, atendidos na unidade de gastroenterologia pediátrica do HCPA; como controles, crianças eutróficas da mesma faixa etária. Foi coletado sangue para as dosagens por radioimunoensaio, e realizadas avaliação antropométrica, pesquisa de tempo de colestase e uso de suplemento vitamínico. RESULTADOS: foram avaliadas 22 crianças e adolescentes com colestase crônica e 17 controles. O valor médio de vitamina D entre os pacientes foi de 13,7 ± 8,39 ng/ml, enquanto que nos controles foi de 25,58 ± 16,73 ng/ml (p = 0,007). A prevalência de hipovitaminose D, entre os pacientes, foi de 36%. A mediana do tempo de colestase foi de um ano. A avaliação antropométrica (NCHS) demonstrou 36% de desnutrição pelo peso, e 41% para estatura. Na avaliação antropométrica pelo escore z, obtivemos prevalência de desnutrição para os critérios altura/idade e peso/idade de 33,3% e 23,8%, respectivamente. Avaliado peso em relação altura, não observamos valores abaixo de dois desvios padrão. Não foi observada relação entre o estado nutricional, o uso de suplemento oral e os níveis plasmáticos de vitamina D CONCLUSÕES: os níveis plasmáticos de vitamina D em colestáticos foram menores do que os dos controles, sem relação com estado nutricional, tempo de colestase e/ou uso suplementação vitamínica.

OBJECTIVE: to verify blood levels of vitamin D in patients with chronic cholestasis, and relate them to nutritional status, length of time since the onset of cholestasis and use of vitamin supplement. METHODS: controlled cross-sectional study with chronic cholestasis as study factor and blood levels of vitamin D as outcome. The study included patients aged between 4 months and 18 years, who were cared for at the Pediatric Gastroenterology Unit of Hospital de Clínicas de Porto Alegre. Controls were eutrophic children in the same age range. Blood was collected for radioimmunoassay. Anthropometric analyses were performed, as was determination of the length of time since the onset of cholestasis and use of vitamin supplement. RESULTS: twenty-two patients and 17 controls were evaluated. Average vitamin D level in patients was 13.7 ± 8.39 ng/ml, compared to 25.58 ± 16.73 ng/ml in controls (p = 0.007). Prevalence of hypovitaminosis D in patients was 36%. Median of period of time since the onset of cholestasis was 1 year with variation of 6 months to the 25th percentile and 3.9 years to the 75th percentile. Anthropometric evaluation (NCHS) showed 36% of malnutrition by weight and 41% by height. Anthropometric evaluation according to Z score showed 33.3% and 23.8% prevalence of malnutrition for the criteria height/age and weight/age, respectively. The evaluation of weight regarding height did not show values below two standard deviations. No relationship was found between nutritional state, use of oral vitamin supplement and blood levels of vitamin D. CONCLUSIONS: blood levels of vitamin D in patients with cholestasis were lower than those of controls, but were not related to nutritional status, period of time since the onset of cholestasis or use of vitamin supplement.