ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 1 of about 12 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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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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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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ey0018.10-13 | (1) | ESPEYB18

10.13. Type 1 diabetes can present before the age of 6 months and is characterized by autoimmunity and rapid loss of beta cells

MB Johnson , KA Patel , E De Franco , W Hagopian , M Killian , TJ McDonald , TIM Tree , C Domingo-Vila , M Hudson , S Hammersley , R; EXE-T1D Consortium Dobbs , S Ellard , SE Flanagan , AT Hattersley , RA Oram

Diabetologia. 2020;63(12):2605–2615. doi: 10.1007/s00125-020-05276-4.Diabetes diagnosed at <6 months of age is often of monogenic origin. However, 10-15% of affected infants do not have a pathogenic variant in one of the 26 known neonatal diabetes genes. In this study, 166 infants diagnosed at <6 months of age without such pathogenic variants showed all the the classic feat...
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ey0017.2-7 | Neonatal Diabetes Mellitus | ESPEYB17

2.7. De novo mutations in EIF2B1 affecting eif2 signaling cause neonatal/early-onset diabetes and transient hepatic dysfunction

E De Franco , R Caswell , MB Johnson , MN Wakeling , A Zung , VC Dung , CT Bich Ngoc , R Goonetilleke , M Vivanco Jury , M El-Khateeb , S Ellard , SE Flanagan , D Ron , AT Hattersley

To read the full abstract: Diabetes. 2020 Mar;69(3):477–483. doi: 10.2337/db19-1029. Epub 2019 Dec 27. PMID: 31882561Endoplasmic recticulum (ER) stress plays an important role in the etiology of several forms of diabetes mellitus. There is evidence that ER stress plays a role in both type 1 and type 2 diabetes. More importantly molecular defects in the ER stress pathway are linked to monoge...
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ey0015.2-12 | Neonatal diabetes with autoimmunity can be associated with LRBA Mutations | ESPEYB15

Neonatal diabetes with autoimmunity can be associated with LRBA Mutations

MB Johnson , E De Franco , H Lango Allen , A Al Senani , N Elbarbary , Z Siklar , M Berberoglu , Z Imane , A Haghighi , Z Razavi , I Ullah , Alyaarubi , D Gardner , S Ellard , AT Hattersley , SE Flanagan

To read the full abstract: Diabetes 2017 Aug;66(8):2316-2322Biallelic mutations in the human lipopolysaccharide responsive beige-like anchor (LRBA) gene lead to a primary immunodeficiency known as LRBA deficiency, characterized early-onset hypogammaglobulinemia, severe autoimmune manifestations, enteropathy, lymphoproliferation, and recurrent respiratory tract infections. Neonatal diabetes mellitus (...
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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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ey0016.2-7 | 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):985–989.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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ey0020.13-8 | Section | ESPEYB20

13.8. Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism

MN Wakeling , NDL Owens , JR Hopkinson , MB Johnson , JAL Houghton , A Dastamani , CS Flaxman , RC Wyatt , TI Hewat , JJ Hopkins , TW Laver , R van Heugten , MN Weedon , E De Franco , KA Patel , S Ellard , NG Morgan , E Cheesman , I Banerjee , AT Hattersley , MJ Dunne , International Congenital Hyperinsulinism Consortium , SJ Richardson , SE Flanagan

In Brief: The authors performed whole genome sequencing on 135 patients with congenital hyperinsulinaemia (CHI) who had negative genetic testing for previously known CHI genes. They identified nine different non-coding de novo variants (carried by 14 probands) located in a regulatory region of HK1 intron 2 that co-segregated with disease in families.Comment: HK1 is a ‘disallowed gene’ in the liver and pancreatic beta cells. Th...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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