ABSTRACT
La diabetes mellitus neonatal (DMN) se caracteriza por hiperglucemia que se manifiesta en el primer mes de vida, precisa insulinoterapia y dura como mínimo 2 semanas. Existen dos formas de DMN: transitoria (DMNT) y permanente (DMNP), genéticamente diferentes. Presentamos dos hermanos, con hiperglucemia sin cetosis, a los 18 días y a las 2 h de vida, respectivamente. En ambos casos las pruebas complementarias (función tiroidea, ecografías abdominales, cariotipo) resultaron normales y los anticuerpos antipancreáticos, negativos. Precisaron insulinoterapia hasta los 92 días y los 5 meses de vida, respectivamente. La madre presentó diabetes gestacional en ambos embarazos y, posteriormente, se le diagnosticó diabetes mellitus, con anticuerpos negativos. En el estudio del gen KCNJ11, cuyas alteraciones se asocian principalmente a DMNP, se halló en los tres pacientes la mutación E229K, la cual está relacionada con DMNT. En la DMN es imprescindible el estudio genético para establecer el pronóstico más preciso possible (AU)
Neonatal diabetes mellitus (NDM) is characterized by hyperglycemia within the first month of life and insulin dependence for at least two weeks. There are two types of NDM, transient (TNDM) and permanent (PNDM), which are genetically different. We report the case of two brothers who developed hyperglycemia without ketosis on the 18th day and 2 h of life, respectively. Thyroid function tests, abdominal ultrasound and karyotype where normal and there were no pancreatic antibodies. The first one required insulin therapy for the first 92 days of life and the second for 5 months. The mother developed gestational diabetes during both pregnancies and she was later diagnosed diabetes mellitus (without antibodies).They were studied for mutations in KCNJ11 gene (principally related to the permanent form). The three of them showed the E229K mutation (frequently associated with the transient form). A genetic study is essential in NDM to achieve the most accurate prognosis posible (AU)
