Neonatal Diabetes Mellitus

ey0016.2-6 | Neonatal Diabetes Mellitus | ESPEYB16

2.6. Trisomy 21 is a cause of permanent neonatal diabetes that is autoimmune but not HLA associated

MB Johnson , E De Franco , W Atma , S Greeley , LR Letourneau , K Gillespie , International DS-PNDM consortium , MN Wakeling , S Ellard , SE Flanagan , KA Patel , AT Hattersley

To read the full abstract: Diabetes. 2019 Apr 8. pii: db190045. doi: 10.2337/db19-0045.This study assessed the incidence of permanent neonatal diabetes mellitus (PNDM) in patients with Trisomy 21.Patients with Trisomy 21 have an increased prevalence of autoimmune conditions, such as Type 1 diabetes, celiac disease, alopecia, vitiligo and autoimmune thyroid disorder...

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ey0016.2-7 | Neonatal Diabetes Mellitus | ESPEYB16

2.7. A specific CNOT1 mutation results in a novel syndrome of pancreatic agenesis and holoprosencephaly through impaired pancreatic and neurological development

E De Franco , RA Watson , WJ Weninger , CC Wong , SE Flanagan , R Caswell , A Green , C Tudor , CJ Lelliott , SH Geyer , B Maurer-Gesek , LF Reissig , H Lango Allen , A Caliebe , R Siebert , PM Holterhus , A Deeb , F Prin , R Hilbrands , H Heimberg , S Ellard , AT Hattersley , I Barroso

To read the full abstract: Am J Hum Genet. 2019 May 2;104(5):985989.This study reports the identification of a novel gene that is involved in the regulation of the pancreatic development.Understanding the molecular mechanisms of pancreatic development is important, for example to guide the progress of beta-cell replacement therapy for patients with Type 1 dia...

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ey0016.2-8 | Neonatal Diabetes Mellitus | ESPEYB16

2.8. Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study

P Bowman , AE Sulen , F Barbetti , J Beltrand , P Svalastoga , E Codner , EH Tessmann , PB Juliusson , T Skrivarhaug , ER Pearson , SE Flanagan , T Babiker , NJ Thomas , MH Shepherd , S Ellard , I Klimes , M Szopa , M Polak , D Iafusco , AT Hattersley , PR Njolstad , Neonatal Diabetes International Collaborative Group. Collaborators (113)

To read the full abstract: Lancet Diabetes Endocrinol. 2018 Aug;6(8)This study describes a 10-year follow-up of a large international multicenter cohort of patients with KCNJ11 permanent neonatal diabetes. It addresses key questions relating to long-term efficacy and safety of sulfonylureas in these patients.The discovery that mutations in the KCNJ11</...

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ESPE Yearbook of Paediatric Endocrinology

Yearbook of Paediatric Endocrinology 2019

2. Antenatal and Neonatal Endocrinology

2.6. Trisomy 21 is a cause of permanent neonatal diabetes that is autoimmune but not HLA associated

2.7. A specific CNOT1 mutation results in a novel syndrome of pancreatic agenesis and holoprosencephaly through impaired pancreatic and neurological development

2.8. Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study

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