ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Genetics in Medicine 2018;20:583-590Maturity Onset Diabetes of the Young (MODY) is a heterogeneous group of monogenic forms of diabetes characterized by pancreatic beta-cell dysfunction, with autosomal dominant inheritance. Fourteen distinct MODY genetic subtypes have been identified. A definitive diagnosis of MODY is very challenging because of similar or overlapping cl...

Brief Summary: The authors performed exploratory analyses to identify distinct eGFR trajectories associated with risk of albuminuria in 377 adolescents with T2D. The findings underscore the importance of annual GFR assessments in young people with T2D.Comment: Diabetic kidney disease (DKD) is the primary microvascular complication in adolescents with T2D, and is a leading cause of morbidity and mortality. Albuminuria is the earliest clinical indicator of...

Brief Summary: Rare forms of diabetes (‘monogenic diabetes’) are caused by a single rare gene variant, while adult-onset T2D is influenced by thousands of common genetic variants. This study reveals that youth-onset T2D shares some genetic features with both monogenic and typical adult-onset T2D, marked by both common and rare genetic variantsComment: A significant challenge is understanding why the course of T2D in children and teenagers is mo...