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Neonatal hyperglycaemia and abnormal development of the pancreas

Isabelle Flechtner1, Martine Vaxillaire, Hélène Cavé

  • 1Clinique des Maladies du Développement, Unité d'Endocrinologie, Diabétologie et Gynécologie Pédiatrique, Hôpital Necker-Enfants Malades, Paris, France.

Best Practice & Research. Clinical Endocrinology & Metabolism
|February 19, 2008
PubMed

Insights

Transient and permanent neonatal diabetes mellitus are rare. Genetic analysis of KCNJ11 and ABCC8 genes helps distinguish these conditions and may allow transfer from insulin to sulfonylureas.

Area of Science:

  • Endocrinology
  • Genetics
  • Neonatal Medicine

Background:

  • Neonatal diabetes mellitus (NDM) is a rare disorder affecting approximately 1 in 300,000 live births.
  • NDM presents as either transient (TNDM) with remission or permanent (PNDM) with persistent insulin deficiency.
  • PNDM is often caused by genetic mutations affecting insulin secretion.

Observation:

  • Mutations in KCNJ11 and ABCC8 genes, encoding pancreatic K(ATP) channel subunits, are identified in a significant portion of PNDM cases.
  • These genes are crucial for regulating insulin secretion.
  • Analysis of chromosome 6 anomalies and these specific genes can differentiate TNDM from PNDM.

Findings:

  • Genetic analysis of KCNJ11 and ABCC8 mutations provides a diagnostic tool for distinguishing TNDM from PNDM in newborns.
  • Identifying these mutations can guide treatment strategies.
  • Approximately one-third to one-half of PNDM cases are linked to mutations in KCNJ11 and ABCC8.

Implications:

  • Distinguishing between TNDM and PNDM early is critical for appropriate patient management.
  • Patients with specific KCNJ11 or ABCC8 mutations may be candidates for transitioning from insulin therapy to oral sulfonylureas.
  • Genetic testing offers a pathway to personalized treatment for neonatal diabetes mellitus.

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