hrp0089p2-p065 | Diabetes & Insulin P2 | ESPE2018

Transient Neonatal Diabetes Mellitus due to not Described Mutation in ABCC8 Gene with Different Behaviour in Affected Family Members

Angeles Santos Mata Maria , Pilar Fernandez Viseras Irene , Torres Barea Isabel , Castano Gonzalez Luis

Neonatal diabetes (ND), classified as either permanent (PND) or transient (TND), occurs in 1/200,000 live births. In 50% cases of TND, remission presents within the first year of life, only to relapse later before puberty in 50% of cases. The most frequent cause is mutation of the 6q24 gene accompanied by mutations in heterozygosis of ABCC8 gene. 80% of mutations in this gene are in novo, due to autosomal recessive inheritance. Such cases respond to treatment with sulfonylurea...