title: Incidence of neonatal diabetes in Austria-calculation based on the Austrian Diabetes Register.
abstract: BACKGROUND
  Neonatal diabetes mellitus (NDM) is a rare monogenic form of diabetes which is diagnosed in the first 6 months of life. Several studies in the last few years provide information on genetic causes for NDM.
  
  
  OBJECTIVE
  The aim of this study was to identify all patients with diabetes in the first 6 months of life through the Austrian Diabetes Register, which is available since 1989. A retrospective data analyses was performed to calculate the current incidence of NDM.
  
  
  METHODS
  Ten patients were registered with diabetes onset within the first 6 months of life in the Austrian Diabetes Register. Evaluation of detailed clinical data was performed by sending a questionnaire to all diabetes centers.
  
  
  RESULTS
  Ten patients from nine different families with NDM were diagnosed in Austria from 1989 until September 2007. Seven patients (one male, six females) had transient NDM (TNDM), three (two males, one female) showed a permanent course [permanent neonatal diabetes mellitus (PNDM)]. One had immunodeficiency, polyendocrinopathy and enteropathy X-linked (IPEX) syndrome and another showed aplasia of the pancreas; no genetic etiology was found in the third case. In three out of seven patients with a transient course of NDM a genetic diagnosis was possible. Two female siblings had activating point mutations in the ABCC8 gene, although one patient had paternal uniparental isodisomy of chromosome 6q24. One patient's family did not consent to genetic testing.
  
  
  CONCLUSIONS
  The incidence of NDM in Austria is 1/160 949, with an incidence of 1/ 536 499 for PNDM and 1/229 928 for TNDM.
authors.affiliation: Department of Pediatrics, Medical University of Innsbruck, 6020 Innsbruck, Austria.
authors.forename: Barbara
authors.initials: B
authors.lastname: Wiedemann
authors.forename: Edith
authors.initials: E
authors.lastname: Schober
authors.forename: Thomas
authors.initials: T
authors.lastname: Waldhoer
authors.forename: Julia
authors.initials: J
authors.lastname: Koehle
authors.forename: Sarah E
authors.initials: SE
authors.lastname: Flanagan
authors.forename: Deborah Jg
authors.initials: DJ
authors.lastname: Mackay
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Steichen
authors.forename: Dagmar
authors.initials: D
authors.lastname: Meraner
authors.forename: Lothar-Bernd
authors.initials: LB
authors.lastname: Zimmerhackl
authors.forename: Andrew T
authors.initials: AT
authors.lastname: Hattersley
authors.forename: Sian
authors.initials: S
authors.lastname: Ellard
authors.forename: Sabine
authors.initials: S
authors.lastname: Hofer
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics; D001317:Austria / Q000453:epidemiology; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D003920:Diabetes Mellitus / Q000453:epidemiology* / Q000235:genetics; D005260:Female; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D008297:Male; D017354:Point Mutation; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics; D011955:Receptors, Drug / Q000235:genetics; D012042:Registries; D012189:Retrospective Studies; D064233:Sulfonylurea Receptors; D024182:Uniparental Disomy / Q000235:genetics
chemical_list: D018528:ATP-Binding Cassette Transporters; D024661:Potassium Channels, Inwardly Rectifying; D011955:Receptors, Drug; D064233:Sulfonylurea Receptors