RESUMO
The aim of this study was to investigate the relationship of two single nucleotide polymorphisms (SNPs) in the interleukin-18 ( IL18 ) gene (rs187238, g.-137G > C; rs1946518, g.-607C > A) and one SNP of the IL12B gene (rs3212227 g.*159A > C, 3'UTR) with the age of onset for type 1 diabetes mellitus (DM1). A total of 1,101 patients with DM1 enrolled in 13 centers from different regions of Brazil were genotyped with TaqMan assay and classified according to the ancestry. Our results show that an SNP in IL18 gene could be associated with DM1 age onset, taking into account that this studied variation affects gene expression.
RESUMO
JUSTIFICATIVA E OBJETIVOS: A síndrome de POEMS é uma entidade rara e pouco diagnosticada devido a sua variedade de manifestações clínicas, a maior parte delas inespecíficas. Pode estar associada à doença de Castleman em até 25% dos casos, uma entidade histopatológica também pouco comum. O diagnóstico da síndrome de POEMS é clínico, baseado em critérios definidos pela Mayo Clinic e seu tratamento ainda é um desafio. O objetivo deste estudo foi relatar um caso de síndrome de POEMS associada à doença de Castleman. RELATO DO CASO: Paciente do sexo masculino, 52 anos, foi encaminhado ao serviço com quadro de seis meses de evolução de emagrecimento, ginecomastia, hiperpigmentação de face e extremidades e parestesia distal em membros inferiores. Ao exame físico, notava-se também linfonodomegalia difusa. Exames laboratoriais mostravam eritrocitose, trombocitose, hipotireoidismo subclínico, testosterona no limite inferior da normalidade e hiperproteinorraquia. Exames de imagem para detecção de neoplasia foram todos normais. A biópsia de linfonodo supraclavicular esquerdo demonstrou doença de Castleman e a imunofixação sérica evidenciou componente monoclonal de cadeia leve, o que levou ao diagnóstico de síndrome de POEMS associada à doençade Castleman. CONCLUSÃO: A síndrome de POEMS deve ser lembrada em pacientes com quadro neurológico associado à doença monoclonal e manifestações clínicas diversas, enquanto a doença de Castleman deve fazer parte do diagnóstico diferencial de linfonodomegalia. A associação das duas entidades, apesar de rara, pode estar presente.
BACKGROUND AND OBJECTIVES: POEMS syndrome is a rare, often poorly diagnosed entity because of its variety of clinical manifestations, the majority of them being unspecific. It can be associated with Castleman disease, also a rare histopathological entity, in up to 25% of cases. The diagnosis of POEMS syndrome is a clinical one, based on Mayo Clinic criteria, and its management is still a challenge. The objective of this article was to report a case of POEMS syndrome associated with Castleman disease. CASE REPORT: Male patient, 52-year-old was referred to our service due to weight loss, gynecomastia, face and extremities hyperpigmentation and distal paresthesia of lower limbs that have been progressing for 6 months. At clinical examination, diffuse lymphadenopathy was also noted. Laboratory tests demonstrated polycythemia, thrombocytosis, subclinical hypothyroidism, testosterone at the lower limit of normal, and elevated cerebrospinal fluid protein. Images to detect tumors were all normal. Aleft supraclavicular lymph node biopsy revealed Castleman disease and serum immunoelectrophoresis demonstrated monoclonal light chain. With these findings, the diagnosis of POEMS syndrome associated with Castleman disease was established. CONCLUSION: POEMS syndrome should be considered in patients with a neurological condition associated with a monoclonal disease and many diverse clinical manifestations, while Castleman disease might be part of differential diagnosis of lymphadenomegaly. The association of the two entities, though rare,can be present.