ESPE Abstracts

Background: In this study we anaysed the epidemiology, clinical characteristics, immunological and metabolic factors in children with type 1 diabetes (T1DM).Methods: From January 2009 to January 2023, children with T1DM. were enrolled in this study. 79 healthy children were recruited as the control group.Results: A total of 357 children with T1DM were included, including 177 males ...

Background: Bardet Biedl syndrome(BBS) is a type of non-motile ciliopathy primarily characterized by retinal dystrophy, obesity, polydactyly, cognitive impairment, urogenital anomalies and renal abnormalities. To date, 26 genes have been reported to be associated with BBS: BBS1-BBS21, IFT74, SCLT1, SCAPER and NPHP1. BBS is genetically heterogeneous with significant clinical overlap with other ciliopathies, further c...