Journal ArticleDOI
Sulfonylurea for improving neurological features in neonatal diabetes: A systematic review and meta‐analyses
Caroline Passone,Elisa Giani,Laurence Vaivre-Douret,Dulanjalee Kariyawasam,Marianne Berdugo,Laurent Garcin,Jacques Beltrand,Wanderley Marques Bernardo,Michel Polak +8 more
TLDR
This work evaluated published evidence about potential effects of sulfonylureas on neurological features, especially epilepsy, cognition, motor function and muscular tone, visuo‐motor integration, and attention deficits in children and adults with KCNJ11 and ABCC8‐related neonatal‐onset diabetes mellitus.Abstract:
In monogenic diabetes due to KCNJ11 and ABCC8 mutations that impair KATP‐ channel function, sulfonylureas improve long‐term glycemic control. Although KATP channels are extensively expressed in the brain, the effect of sulfonylureas on neurological function has varied widely. We evaluated published evidence about potential effects of sulfonylureas on neurological features, especially epilepsy, cognition, motor function and muscular tone, visuo‐motor integration, and attention deficits in children and adults with KCNJ11 and ABCC8‐related neonatal‐onset diabetes mellitus.read more
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Monogenic diabetes
Amélie Bonnefond,Ranjit Unnikrishnan,Alessandro Doria,Martine Vaxillaire,Rohit N. Kulkarni,Viswanathan Mohan,Vincenzo Trischitta,Philippe Froguel +7 more
Journal ArticleDOI
Early treatment of neonatal diabetes with oral glibenclamide in an extremely preterm infant
Alfonso Galderisi,Elsa Kermorvant-Duchemin,Alejandra Daruich,Adeline Bonnard,Alexandre Lapillonne,Marie-Stephanie Aubelle,Bruna Perrella,Yoann Vial,Hélène Cavé,Marianne Berdugo,Pierre-Henri Jarreau,Michel Polak,Jacques Beltrand +12 more
TL;DR: In this paper , the authors adopted oral glibenclamide suspension (Amglidia) for the early treatment of neonatal diabetes due to an homozygous variant of KCNJ11 gene c.10C>T [p.Arg4Cys] in an extremely preterm infant born at 26 + 2 weeks' of gestational age.
Posted ContentDOI
Systematic Review of Treatment of Beta-Cell Monogenic Diabetes
Rochelle N. Naylor,Kashyap A. Patel,Jarno Kettunen,Jonna M E Männistö,Julie Støy,Jacques Beltrand,Miche Polak,Tina Vilsbøll,Siri Atma W. Greeley,Andrew T. Hattersley,Tiinamaija Tuomi +10 more
TL;DR: In this article , a systematic review with data sources from PubMed, MEDLINE and Embase was performed answering specific therapeutic questions for the different subtypes of genetically confirmed monogenic diabetes.
Posted ContentDOI
KATP channel mutation disrupts hippocampal network activity and nocturnal γ shifts
TL;DR: In this article , the parvalbumin-positive interneurons (PV-INs) were found to play a key role in DEND syndrome and this provided a framework for establishing treatment options.
Journal ArticleDOI
Case report: Better late than never, but sooner is better: switch from CSII to sulfonylureas in two patients with neonatal diabetes due to KCNJ11 variants
Valentina Mancioppi,Erica Pozzi,Sara Zanetta,Anna Missineo,Silvia Savastio,Fabrizio Barbetti,Simona Mellone,Mara Giordano,Ivana Rabbone +8 more
TL;DR: In this paper , the authors describe the different management and clinical outcome over the time of two male patients with NDM due to KCNJ11 pathogenetic variants, using continuous subcutaneous insulin infusion pumps (CSII).
References
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Journal ArticleDOI
GRADE: an emerging consensus on rating quality of evidence and strength of recommendations
Gordon H. Guyatt,Andrew D Oxman,Gunn Elisabeth Vist,Regina Kunz,Yngve Falck-Ytter,Pablo Alonso-Coello,Holger J. Schünemann +6 more
TL;DR: The advantages of the GRADE system are explored, which is increasingly being adopted by organisations worldwide and which is often praised for its high level of consistency.
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Activating Mutations in the Gene Encoding the ATP-Sensitive Potassium-Channel Subunit Kir6.2 and Permanent Neonatal Diabetes
Anna L. Gloyn,Ewan R. Pearson,Jennifer F. Antcliff,Peter Proks,G. Jan Bruining,Annabelle S. Slingerland,Neville J. Howard,Shubha Srinivasan,Jose M. C. L Silva,Janne Molnes,Emma L. Edghill,Timothy M. Frayling,I. Karen Temple,Deborah J G Mackay,Julian P.H. Shield,Zdenek Sumnik,Adrian van Rhijn,Jerry Wales,Penelope M. Clark,Shaun Gorman,Javier Aisenberg,Sian Ellard,Pål R. Njølstad,Frances M. Ashcroft,Andrew T. Hattersley +24 more
TL;DR: Heterozygous activating mutations in the gene encoding Kir6.2 cause permanent neonatal diabetes and may also be associated with developmental delay, muscle weakness, and epilepsy, and Identification of the genetic cause of permanent newborn diabetes may facilitate the treatment of this disease with sulfonylureas.
Journal ArticleDOI
Activating Mutations in the ABCC8 Gene in Neonatal Diabetes Mellitus
Andrey P. Babenko,Michel Polak,Hélène Cavé,Kanetee Busiah,Paul Czernichow,Raphael Scharfmann,Joseph Bryan,Lydia Aguilar-Bryan,Martine Vaxillaire,Philippe Froguel +9 more
TL;DR: Dominant mutations in ABCC8 accounted for 12 percent of cases of neonatal diabetes in the study group, and mutant channels in intact cells and in physiologic concentrations of magnesium ATP had a markedly higher P(O) than did wild-type channels.
Journal ArticleDOI
Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy.
TL;DR: The finding that Kir6.2 mutations can cause neonatal diabetes has enabled a new therapeutic approach and shed new light on the structure and function of the Kir 6.2 subunit of the K(ATP) channel.
Journal ArticleDOI
Mild Familial Diabetes with Dominant Inheritance
TL;DR: Three families have been described in which diabetes, although usually diagnosed in the teens or early 20s, is mild and does not progress to insulin dependence even over a period of 40 years, which provides evidence of the genetic heterogeneity of diabetes mellitus.