hrp0086rfc5.6 | Management of Disorders of Insulin Secretion | ESPE2016

Clinical Management of the Mitchell-Riley Syndrome Due to RFX6 Gene Mutations: Aggressive Support Results in Improved Outcome

Poidvin Amelie , Chandra Vikash , Fauret-Amsellem Anne-Laure , Cave Helene , Beltrand Jacques , Tubiana-Rufi Nadia , Carel Jean-Claude , Polak Michel , Scharfmann Raphael

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...