Neonatal Diabetes Mellitus.

Details

Serval ID
serval:BIB_E58337A733C1
Type
Article: article from journal or magazin.
Publication sub-type
Review (review): journal as complete as possible of one specific subject, written based on exhaustive analyses from published work.
Collection
Publications
Institution
Title
Neonatal Diabetes Mellitus.
Journal
Frontiers in pediatrics
Author(s)
Beltrand J. (co-first), Busiah K. (co-first), Vaivre-Douret L., Fauret A.L., Berdugo M., Cavé H., Polak M.
ISSN
2296-2360 (Print)
ISSN-L
2296-2360
Publication state
Published
Issued date
2020
Peer-reviewed
Oui
Volume
8
Pages
540718
Language
english
Notes
Publication types: Journal Article ; Review
Publication Status: epublish
Abstract
Neonatal Diabetes (ND) mellitus is a rare genetic disease (1 in 90,000 live births). It is defined by the presence of severe hyperglycaemia associated with insufficient or no circulating insulin, occurring mainly before 6 months of age and rarely between 6 months and 1 year. Such hyperglycaemia requires either transient treatment with insulin in about half of cases, or permanent insulin treatment. The disease is explained by two major groups of mechanism: malformation of the pancreas with altered insulin-secreting cells development/survival or abnormal function of the existing pancreatic β cell. The most frequent genetic causes of neonatal diabetes mellitus with abnormal β cell function are abnormalities of the 6q24 locus and mutations of the ABCC8 or KCNJ11 genes coding for the potassium channel in the pancreatic β cell. Other genes are associated with pancreas malformation or insufficient β cells development or destruction of β cells. Clinically, compared to patients with an ABCC8 or KCNJ11 mutation, patients with a 6q24 abnormality have lower birth weight and height, are younger at diagnosis and remission, and have a higher malformation frequency. Patients with an ABCC8 or KCNJ11 mutation have neurological and neuropsychological disorders in all those tested carefully. Up to 86% of patients who go into remission have recurrent diabetes when they reach puberty, with no difference due to the genetic origin. All these results reinforce the importance of prolonged follow-up by a multidisciplinary pediatric team, and later doctors specializing in adult medicine. 90% of the patients with an ABCC8 or KCNJ11 mutation as well as those with 6q24 anomalies are amenable to a successful switch from insulin injection to oral sulfonylureas.
Keywords
ABCC8, KCNJ11 (Kir6.2), associated malformations, chromosome 6q24 abnormality, neonatal diabetes mellitus, neuropsychological disorder, sulfonylurea receptor (SUR1)
Pubmed
Web of science
Open Access
Yes
Create date
03/11/2020 9:54
Last modification date
06/11/2020 6:26
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