ESPE Abstracts

Introduction / aim: Neonatal diabetes owned to potassium channel mutation can be successfully treated by sulfonylureas (SU). No study has reported SU efficiency according to the genotype.Method: Review of literature conducted in accordance with the control criteria of Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA). Search engine used: PubMed and the Cochrane Library database. Selection of clinical report, case reviews and met...

Background: Sulfonylureas (SU) have proven to be effective in patients with monogenic diabetes owing to potassium channel mutation. They allow the discontinuation of insulin and a good metabolic control. Long-term data arguing for a persistent beneficial effect of SU are missing.Objective and hypotheses: SU provide a good metabolic control maintained over time in patients with neonatal diabetes.Method: From a French cohort of 34 pa...

Background: Homozygous mutations in the transcription factor RFX6 are the cause of the Mitchell-Riley syndrome associating neonatal diabetes, pancreatic hypoplasia, gallbladder agenesis, duodenal atresia, and severe chronic diarrhea. Nine cases have been reported so far and the condition has a poor prognosis with five of nine patients died before the age of 6 months.Objective and hypotheses: To report on the clinical management and outcome of tw...

Background: “Transient” Neonatal Diabetes Mellitus (TNDM) is a rare genetic beta cells dysfunction leading to hyperglycaemia that resolves in early childhood. About 80% of patients relapse during adolescence or adulthood. Glucose homeostasis had not been investigated in adulthood.Objective and hypotheses: To investigate insulin secretion and insulin sensitivity in adults affected with TNDM or in their 1st degree mutated relatives.</p...

Background: Sulfonylurea therapy (SU) allows a better metabolic control than insulin in patients with neonatal diabetes secondary to mutation in potassium channel subunits (ND-K). Most of these patients have neurological and neuromotor developmental impairments whose changes under SU has not been studied in a systematic and prospective way in a large cohort.Objective and Hypotheses: To demonstrate the beneficial effect of SU on neuropsychological functio...