ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 1 of about 4 results

ey0017.2-8 | Neonatal Diabetes Mellitus | ESPEYB17

2.8. Patterns of post-meal insulin secretion in individuals with sulfonylurea-treated KCNJ11 neonatal diabetes show predominance of non-KATP-channel pathways

P Bowman , TJ McDonald , BA Knight , SE Flanagan , M Leveridge , SR Spaull , BM Shields , S Hammersley , MH Shepherd , RC Andrews , KA Patel , AT Hattersley

To read the full abstract: BMJ Open Diabetes Research and Care2019; 7:e000721. PMID: 31908791Understanding of the molecular mechanisms underlying neonatal diabetes mellitus (NDM) has helped to transform the clinical management of some patients. Those with NDM due to mutations in the KCNJ11/ABCC8 genes can now be switched to oral sulphonylurea treatment and their daily insu...
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ey0018.2-8 | Neonatal diabetes mellitus | ESPEYB18

2.8. Long-term Follow-up of Glycemic and Neurological Outcomes in an International Series of Patients With Sulfonylurea-Treated ABCC8 Permanent Neonatal Diabetes.

P Bowman , F Mathews , F Barbetti , MH Shepherd , J Sanchez , B Piccini , J Beltrand , LR Letourneau-Freiberg , M Polak , SAW Greeley , E Rawlins , T Babiker , NJ Thomas , E De Franco , S Ellard , SE Flanagan , AT Hattersley , Neonatal Diabetes International Collaborative Group

Diabetes Care. 2021 Jan;44(1):35–42. doi: 10.2337/dc20-1520. PMID: 33184150.The key findings from this cohort of patients with ABCC8 neonatal diabetes mellitus (NDM) are: A) good glycaemic control is maintained over the long-term without any serious adverse events (including severe hypoglycaemia) despite high doses of sulphonylurea, B) some patients show improvements in neurologica...
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ey0017.2-11 | Updates on the Genetics of Neonatal Diabetes Mellitus, Congenital Hyperinsulinism and Glucose Disorders | ESPEYB17

2.11. Update of variants identified in the pancreatic [beta]-cell KATPchannel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes

E De Franco , C Saint-Martin , K Brusgaard , AE Knight Johnson , L Aguilar-Bryan , P Bowman , JB Arnoux , AR Larsen , S May , Saw Greeley , R Calzada-Leon , B Harman , JAL Houghton , Nishimura-Meguro , TW Laver , S Ellard , D Del Gaudio , HT Christesen , C Bellanne-Chantelot , SE Flanagan

To read the full abstract: Hum Mutat. 2020 May;41(5):884–905. doi: 10.1002/humu.23995. Epub 2020 Feb 17. PMID: 32027066Pancreatic KATPchannels play a key role in regulating insulin secretion. These channels are composed of four subunits of SUR1 and four subunits of KIR6.2 encoded by the ABCC8 and KNCJ11 genes, respectively. Inactivating mutations in these two g...
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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
ISSN 1662-4009 (Online)
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