ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Lancet Diabetes Endocrinol. 2018;6:122-129T1DM formerly called juvenile or insulin dependent diabetes has so far been considered to be a disease of children adolescents and young adults according to traditional teaching. LADA or late autoimmune diabetes of the adult is known since several decades, however the older the patient with new onset diabetes the more li...

To read the full abstract: Lancet 218; 392: 451–530Despite great improvements in diabetes care, people with type 1 diabetes (T1D) remain at increased risk of mortality and morbidity, in particular from cardiovascular disease (CVD). How exactly diabetes leads to CVD and which factors contribute to the increased risk profile is still largely unknown. Molecular mechanisms are being stu...

Cell Rep. 2021 Apr 13;35(2):108981. doi: 10.1016/j.celrep.2021.108981. PMID: 33852861.Mutations in the promotor region of the insulin gene are associated with a subtype of neonatal diabetes mellitus (NDM). These mutations lead to abnormal transcription of the insulin gene and do so by deleting the C1 and E1 cis regulatory elements, or three different single base-pair substitutions in ...

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...

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...

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...

Diabetes Care. 2020; 43:82–89. doi: 10.2337/dc19-0747.It is often difficult to identify maturity-onset diabetes of the young (MODY) in pediatric patients close to diabetes onset. Hence, misdiagnosis and unnecessary insulin treatment are still common.This study reports the discriminatory clinical features at diabetes onset in Swedish pediatric patients (age 1–18 y...

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...

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...

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 (...