hrp0082p3-d3-733 | Diabetes (2) | ESPE2014

Transient Neonatal Diabetes and Intermediate DEND Phenotype with KCNJ11 Mutation

Fitas Ana Laura , Morais Rita Belo , Viveiros Eulalia , Simoes Anabela , Raposo Ana , Anselmo Joao , Limbert Catarina , Lopes Lurdes

Background: Neonatal diabetes (ND) is a rare condition (1:160.000-260.000 live births) associated with diabetes onset within the first 6 months of life. It can be permanent (PNDM) or transient (TNDM), and several genes can be implicated in both, namely KCNJ11. Clinical phenotypes usually correlate to the causal gene. KCNJ11 mutations are usually associated with PNDM whilst the most frequent cause of TNDM is disordered imprinting in the 6q24 locus.Objecti...