Type 1 diabetes can present before the age of 6 months and is characterised by autoimmunity and rapid loss of beta cells
| Autor: | Rebecca Dobbs, Elisa De Franco, Sian Ellard, Michael Killian, Suzanne Hammersley, Clara Domingo-Vila, Matthew B. Johnson, Timothy J. McDonald, William Hagopian, Richard A. Oram, Andrew T. Hattersley, Timothy Tree, Kashyap A. Patel, Michelle Hudson, Sarah E. Flanagan |
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| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Male medicine.medical_specialty Endocrinology Diabetes and Metabolism 030209 endocrinology & metabolism Autoimmunity Standard score medicine.disease_cause Gastroenterology Article 03 medical and health sciences 0302 clinical medicine Internal medicine Diabetes mellitus Insulin-Secreting Cells Internal Medicine medicine Humans Genetic Testing Genetic testing Type 1 diabetes medicine.diagnostic_test C-Peptide business.industry Autoantibody Neonatal diabetes Infant Newborn Infant medicine.disease Genetic risk score 3. Good health 030104 developmental biology Diabetes Mellitus Type 1 In utero Female Beta cell business Biomarkers |
| Zdroj: | Diabetologia |
| ISSN: | 1432-0428 0012-186X |
| Popis: | Aims/hypothesis Diabetes diagnosed at Methods We studied 166 infants diagnosed with type 1 diabetes at n = 164) or children with type 1 diabetes diagnosed at 6–24 months of age (n = 152). We assessed the type 1 diabetes genetic risk score (T1D-GRS), islet autoantibodies, C-peptide and clinical features. Results We found an excess of infants with high T1D-GRS: 38% (63/166) had a T1D-GRS >95th centile of healthy individuals, whereas 5% (8/166) would be expected if all were monogenic (p p = 0.2), and had markedly reduced C-peptide levels (median z score −0.89), which were lowest in those diagnosed with type 1 diabetes at z score −1.98). Conclusions/interpretation We provide strong evidence that type 1 diabetes can present before the age of 6 months based on individuals with this extremely early-onset diabetes subtype having the classic features of childhood type 1 diabetes: high genetic risk, autoimmunity and rapid beta cell loss. The early-onset association with reduced birthweight raises the possibility that for some individuals there was reduced insulin secretion in utero. Comprehensive genetic testing for all neonatal diabetes genes remains essential for all individuals diagnosed with diabetes at |
| Databáze: | OpenAIRE |
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