Neonatal hyperglycaemia and abnormal development of the pancreas.
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.
Flechtner
Isabelle
I
Clinique des Maladies du Développement, Unité d'Endocrinologie, Diabétologie et Gynécologie Pédiatrique, Hôpital Necker-Enfants Malades, Paris, France.
Vaxillaire
Martine
M
Cavé
Hélène
H
Scharfmann
Raphael
R
Froguel
Philippe
P
Polak
Michel
M
D002869:Chromosome Aberrations; D002896:Chromosomes, Human, Pair 6; D003920:Diabetes Mellitus / Q000188:drug therapy / Q000453:epidemiology / Q000235:genetics* / Q000378:metabolism; D018507:Gene Expression Regulation, Developmental; D005817:Genetic Counseling; D006801:Humans; D006943:Hyperglycemia / Q000188:drug therapy / Q000235:genetics*; D007223:Infant; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000188:drug therapy / Q000453:epidemiology / Q000235:genetics / Q000378:metabolism; D008297:Male; D010179:Pancreas / Q000002:abnormalities / Q000254:growth & development*; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics / Q000378:metabolism
D024661:Potassium Channels, Inwardly Rectifying