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Brief Summary: This review describes the heterogeneity in type 1 diabetes (T1D), the emerging concept of endotypes, and their impact on T1D prediction, prevention and treatment.Growing evidence supports the existence of heterogeneity in T1D genetic background, pathogenesis, clinical course, susceptibility to complications and response to emerging immunotherapy (1,2). This has led to the concept that T1D is not a single disease; instead there are distinct...

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ey0019.10-7 | New paradigms | ESPEYB19

10.7. Circulating C-peptide levels in living children and young people and pancreatic beta cell loss in pancreas donors across type 1 diabetes disease duration

ALJ Carr , JRJ Inshaw , CS Flaxman , P Leete , RC Wyatt , LA Russell , M Palmer , D Prasolov , T Worthington , B Hull , LS Wicker , DB Dunger , RA Oram , NG Morgan , JA Todd , SJ Richardson , REJ Besser

Diabetes. 2022;71:1591-1596. https://pubmed.ncbi.nlm.nih.gov/35499624/Brief Summary: This cross-sectional study compared trends in plasma C-peptide decline in 4,076 young people with type 1 diabetes (T1D), with trends in beta-cell loss in 235 pancreas donors. As expected, C-peptide declined over time, and this was particularly marked in children with T1D younger than 7 years. Of interest, p...

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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

10.7. Heterogeneity and endotypes in type 1 diabetes mellitus

10.7. Circulating C-peptide levels in living children and young people and pancreatic beta cell loss in pancreas donors across type 1 diabetes disease duration

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

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