Document Detail

Neonatal hyperglycaemia and abnormal development of the pancreas.
MedLine Citation:
PMID:  18279778     Owner:  NLM     Status:  MEDLINE    
Transient and permanent neonatal diabetes mellitus (TNDM and PNDM) are rare conditions occurring in around 1 per 300,000 live births. In TNDM, growth-retarded infants develop diabetes in the first few weeks of life, only to go into remission after a few months with possible relapse to permanent diabetes usually around adolescence or in adulthood. In PNDM, insulin secretory failure occurs in the late fetal or early postnatal period. The very recently elucidated mutations in KCNJ11 and ABCC8 genes, encoding the Kir6.2 and SUR1 subunits of the pancreatic K(ATP) channel involved in regulation of insulin secretion, account for a third to a half of the PNDM cases. Molecular analysis of chromosome 6 anomalies and the KCNJ11 and ABCC8 genes encoding Kir6.2 and SUR1 provides a tool for distinguishing transient from permanent neonatal diabetes mellitus in the neonatal period. Some patients (those with mutations in KCNJ11 and ABCC8) may be transferred from insulin therapy to sulphonylureas.
Isabelle Flechtner; Martine Vaxillaire; Hélène Cavé; Raphael Scharfmann; Philippe Froguel; Michel Polak
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review    
Journal Detail:
Title:  Best practice & research. Clinical endocrinology & metabolism     Volume:  22     ISSN:  1521-690X     ISO Abbreviation:  Best Pract. Res. Clin. Endocrinol. Metab.     Publication Date:  2008 Feb 
Date Detail:
Created Date:  2008-02-18     Completed Date:  2008-05-22     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101120682     Medline TA:  Best Pract Res Clin Endocrinol Metab     Country:  England    
Other Details:
Languages:  eng     Pagination:  17-40     Citation Subset:  IM    
Clinique des Maladies du Développement, Unité d'Endocrinologie, Diabétologie et Gynécologie Pédiatrique, Hôpital Necker-Enfants Malades, Paris, France.
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MeSH Terms
Chromosome Aberrations
Chromosomes, Human, Pair 6
Diabetes Mellitus / drug therapy,  epidemiology,  genetics*,  metabolism
Gene Expression Regulation, Developmental
Genetic Counseling
Hyperglycemia / drug therapy,  genetics*
Infant, Newborn
Infant, Newborn, Diseases / drug therapy,  epidemiology,  genetics,  metabolism
Pancreas / abnormalities,  growth & development*
Potassium Channels, Inwardly Rectifying / genetics,  metabolism
Reg. No./Substance:
0/Potassium Channels, Inwardly Rectifying

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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