ESPE Abstracts

Introduction: The heterozygous activating mutations in the KCNJ11 and ABCC8 are the commonest causes of permanent neonatal diabetes mellitus (PNDM). The most severe clinical form of NDM is DEND syndrome. Besides diabetes mellitus such patients show severe developmental delay, hypotonia and therapy-resistant epilepsy. To our knowledge only some cases of DEND syndrome due to ABCC8 mutations are sulfonylurea-responsive. Here we report case of DEND syndrome due t...

Background: Neonatal diabetes mellitus (NDM) comprises a group of monogenic disorders caused by mutations in genes involved in pancreatic development or insulin secretion. Accurate and rapid molecular diagnosis of NDM is pivotal for making decision on the treatment strategy. Next-generation sequencing (NGS) allows simultaneos analysis of several candidate genes, which facilitates the diagnostic procedure in NDM.Objective and hypotheses: To summarise our ...

Objectives: Diabetes mellitus (DM) as part of autoimmune dysregulation syndromes holds a unique place among DM monogenic forms. Early diagnosis of the disease is critical for pathogenetic therapy to be prescribed. We describe a clinical case of insulin-dependent DM in combination with severe autoimmune enteropathy in a young patient who had a novel compound heterozygous mutation in the LRBA gene.Methods: The patient unde...