ESPEYB18 10. Type 1 Diabetes Mellitus (1) (14 abstracts)
10.13. Type 1 diabetes can present before the age of 6 months and is characterized by autoimmunity and rapid loss of beta cells
Johnson MB , Patel KA , De Franco E , Hagopian W , Killian M , McDonald TJ , Tree TIM , Domingo-Vila C , Hudson M , Hammersley S , Dobbs R; EXE-T1D Consortium , Ellard S , Flanagan SE , Hattersley AT & Oram RA
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 features of T1D.
They were compared to infants with monogenic neonatal diabetes (n=164) and children with T1D diagnosed at age 6–24 months (n=152). T1D genetic risk score (T1D-GRS), islet autoantibodies, C-peptide and clinical features were assessed and recorded.
An excess of infants with high T1D-GRS was found: 38% (63/166) had a T1D-GRS >95th centile of healthy individuals (5% would be expected by chance). Infants with a high T1D-GRS had a similar rate of autoantibody positivity to infants with T1D diagnosed at age 6–24 months (41% vs 58%, P=0.2), and had markedly reduced C-peptide levels (median <3 pmol/l within 1 year of diagnosis), indicating rapid loss of insulin secretion. These infants also had reduced birthweights (median z score −0.89), especially among infants diagnosed with T1D at <3 months (median z score −1.98).
Comprehensive genetic testing for all neonatal diabetes genes remains essential for all infants diagnosed with diabetes at <6 months of age. However, these findings provide strong evidence that T1D can present even before age 6 months. These infants show the classic features of T1D: high polygenic genetic risk, autoimmunity and rapid beta cell loss. Furthermore, the association with reduced birthweight raises the possibility of reduced insulin secretion already in utero. This population may represent a subgroup of patients with a high potential for early comorbidities and related disease.
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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