Lisa R Letourneau1, Siri Atma W Greeley2. 1. Section of Adult and Pediatric Endocrinology, Diabetes and Metabolism, Kovler Diabetes Center, The University of Chicago, MC 1027/N235; 5841 S. Maryland Ave., Chicago, IL, 60637, USA. 2. Section of Adult and Pediatric Endocrinology, Diabetes and Metabolism, Kovler Diabetes Center, The University of Chicago, MC 1027/N235; 5841 S. Maryland Ave., Chicago, IL, 60637, USA. sgreeley@peds.bsd.uchicago.edu.
Abstract
PURPOSE OF REVIEW: The goal of this review is to provide updates on congenital (neonatal) diabetes from 2011 to present, with an emphasis on publications from 2015 to present. RECENT FINDINGS: There has been continued worldwide progress in uncovering the genetic causes of diabetes presenting within the first year of life, including the recognition of nine new causes since 2011. Management has continued to be refined based on underlying molecular cause, and longer-term experience has provided better understanding of the effectiveness, safety, and sustainability of treatment. Associated conditions have been further clarified, such as neurodevelopmental delays and pancreatic insufficiency, including a better appreciation for how these "secondary" conditions impact quality of life for patients and their families. While continued research is essential to understand all forms of congenital diabetes, these cases remain a compelling example of personalized genetic medicine.
PURPOSE OF REVIEW: The goal of this review is to provide updates on congenital (neonatal) diabetes from 2011 to present, with an emphasis on publications from 2015 to present. RECENT FINDINGS: There has been continued worldwide progress in uncovering the genetic causes of diabetes presenting within the first year of life, including the recognition of nine new causes since 2011. Management has continued to be refined based on underlying molecular cause, and longer-term experience has provided better understanding of the effectiveness, safety, and sustainability of treatment. Associated conditions have been further clarified, such as neurodevelopmental delays and pancreatic insufficiency, including a better appreciation for how these "secondary" conditions impact quality of life for patients and their families. While continued research is essential to understand all forms of congenital diabetes, these cases remain a compelling example of personalized genetic medicine.
Authors: Siri Atma W Greeley; Rochelle N Naylor; Lindsay S Cook; Susan E Tucker; Rebecca B Lipton; Louis H Philipson Journal: J Diabetes Sci Technol Date: 2011-07-01
Authors: H Inoue; Y Tanizawa; J Wasson; P Behn; K Kalidas; E Bernal-Mizrachi; M Mueckler; H Marshall; H Donis-Keller; P Crock; D Rogers; M Mikuni; H Kumashiro; K Higashi; G Sobue; Y Oka; M A Permutt Journal: Nat Genet Date: 1998-10 Impact factor: 38.330
Authors: Monica S Lanning; David Carmody; Łukasz Szczerbiński; Lisa R Letourneau; Rochelle N Naylor; Siri Atma W Greeley Journal: Pediatr Diabetes Date: 2017-12-05 Impact factor: 4.866
Authors: M Nishi; M Sasahara; T Shono; S Saika; Y Yamamoto; K Ohkawa; H Furuta; T Nakao; H Sasaki; K Nanjo Journal: Diabet Med Date: 2005-05 Impact factor: 4.359
Authors: Elisa De Franco; Sarah E Flanagan; Takuya Yagi; Damien Abreu; Jana Mahadevan; Matthew B Johnson; Garan Jones; Fernanda Acosta; Mphele Mulaudzi; Ngee Lek; Vera Oh; Oliver Petz; Richard Caswell; Sian Ellard; Fumihiko Urano; Andrew T Hattersley Journal: Diabetes Date: 2017-05-03 Impact factor: 9.461
Authors: Elisa De Franco; Sarah E Flanagan; Jayne A L Houghton; Hana Lango Allen; Deborah J G Mackay; I Karen Temple; Sian Ellard; Andrew T Hattersley Journal: Lancet Date: 2015-07-28 Impact factor: 79.321
Authors: Lisa R Letourneau; David Carmody; Kristen Wroblewski; Anna M Denson; May Sanyoura; Rochelle N Naylor; Louis H Philipson; Siri Atma W Greeley Journal: Diabetes Care Date: 2017-08-04 Impact factor: 19.112
Authors: Elisa De Franco; Charles Shaw-Smith; Sarah E Flanagan; Maggie H Shepherd; Andrew T Hattersley; Sian Ellard Journal: Diabetes Date: 2012-12-06 Impact factor: 9.461
Authors: Matthew C Riddle; Louis H Philipson; Stephen S Rich; Annelie Carlsson; Paul W Franks; Siri Atma W Greeley; John J Nolan; Ewan R Pearson; Philip S Zeitler; Andrew T Hattersley Journal: Diabetes Care Date: 2020-12 Impact factor: 19.112