Genel Sur1, Lucia Sur2, Anamaria Girbovan3, Gabriel Samasca4, Giulia Alexandru5, Rahela Carpa5, Iulia Lupan6 1Department of Pediatrics II, Iuliu Hatieganu University of Medicine, Romania 2 Department of Pediatrics I, Iuliu Hatieganu University of Medicine, Romania 3 Department of Immunology II, Iuliu Hatieganu University of Medicine, Romania 4 Emergency Hospital for Children, Romania 5 Departme...

Sirolimus treatment reduced dependence on octreotide and frequent feeding in 4 infants with CHI in a recent study [1]. We report our experience in a 1 year-old boy with presumed diffuse disease due to a de novo heterozygous ABCC8 missense mutation (p.D1506E). This macrosomic infant (term birth weight 5.676kg) presented with hypoglycaemia in the first hours of life. Critical sample results were ...

ABCC8/SUR1-activating mutations induce neonatal diabetes (1) or other diabetes (1–4). Sulfonylurea treatment is unsuccessful in 15% patients (2,3). Glucagon-like peptide 1 (GLP-1) enhances insulin secretion by activating diverse signaling pathways (4). This study aimed at exploring if the GLP-1 effect is retained when b-cell dysfunction is related to ABCC8 mutation. Three informed patients were...

CONTEXT Neonatal diabetes is a rare disorder with an incidence of about 1 in 100,000 live births. It is defined as diabetes diagnosed in the first 6 months of life and it is vital to differentiate this entity from type 1 diabetes to enable accurate diagnosis, prognosis, genetic counseling and treatment. CASE REPORT We describe a case of permanent neonatal diabetes mellitus due to a novel muta...

Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in newborns and infants. It is characterized by the unregulated secretion of insulin from pancreatic Bcells in relation to blood glucose concentration. We reported the case of full term, appropriate for gestational age newborn suffered from CHI and developed severe and persistent hypoglycemia which unresponsive...

Neonatal diabetes mellitus (NDM) is a rare genetic condition with an incidence of 1 in 100,000 (1) that presents before 1 year of age (2). There are two main clinical forms of NDM: permanent NDM (PNDM), which requires lifelong treatment with insulin, and transient NDM (TNDM), which may spontaneously remit and sometimes recurs in the second to third decade of life. In most cases, TNDM and PNDM c...