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.

Neoplasia endócrina múltipla do tipo 2 (NEM2A) é uma síndrome genética com herança autossômica dominante, que predispõe à tríade de carcinoma medular de tireóide (CMT), feocromocitoma (Feo) e hiperparatireoidismo primário (HPP). Aproximadamente 100% dos casos de NEM2A estão associados a mutações germinativas do protooncogene RET (RET), e a análise molecular do RET é atualmente considerada essencial para diagnóstico precoce. A primeira manifestação da NEM2A é geralmente em decorrência de CMT, e menos freqüentemente devido ao Feo. Raramente, a NEM2A é descoberta durante investigação para condições associadas ao HPP. A maioria dos pacientes com HPP é oligossintomática e a apresentação ocorre devido a sintomas relacionados à hipercalcemia, à osteoporose, à dispepsia, à hipertensão ou à litíase renal. A pancreatite hipercalcêmica é rara, sendo uma manifestação incomum do HPP. Este artigo relata um caso de paciente que apresentou pancreatite recorrente como primeira manifestação de NEM2A. Neste caso, abordagem seqüencial com determinação do cálcio sérico, diagnóstico de HPP e análise genética poderiam ter resultado prevenção de pancreatite e manejo precoce da NEM2A.

Multiple endocrine neoplasia type 2A (MEN2A) is an autosomal dominant inherited condition that predisposes to the triad of medullary thyroid cancer (MTC), pheochromocytoma (Pheo), and primary hyperparathyroidism (PHT). Nearly 100% of MEN2A are associated with germ line mutation of the RET proto-oncogene (RET), and DNA-based RET genotype analysis is now considered essential for earlier diagnosis. The first manifestation of MEN2A is most often due to MTC, and less frequently to Pheo. Rarely, MEN2A is recognized during the search for PHT associated conditions. Most patients with primary hyperparathyroidism are asymptomatic, and the focus of the presentation may be the side effects of chronic hypercalcemia, osteoporosis, renal lithiasis, peptic ulcer disease, and hypertension. Hypercalcemic pancreatitis is rare, being an uncommon first manifestation of PHT. Here, we report on a patient who presented recurrent pancreatitis as the first manifestation of MEN2A. In the present case, prompt sequential dosage of calcium, diagnosis of PHT, and genetic analysis would have resulted in pancreatitis prevention and early MEN2A management.