Familial hyperinsulinaemic hypoglycaemia 2

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Wikipedia on Familial hyperinsulinaemic hypoglycaemia 2 (Less technical, ? quality control)

The KCNJ11 gene at 11p15.1 codes for the 390 amino acid ATP-sensitive inward rectifier potassium channel 11. This receptor protein is closely tied to some genetic forms of diabetes mellitus and variants may increase the risk of type 2 diabetes. Mutations cause:

  • Familial hyperinsulinaemic hypoglycaemia 2 (HHF2)
    • Commonest cause of persistent hypoglycemia in infancy.
  • Permanent neonatal diabetes mellitus (PNDM)
    • Distinct from childhood-onset autoimmune diabetes mellitus type 1
    • Insulin-requiring hyperglycemia diagnosed within the first months of life
      • Half so presenting will be permanent
    • Requires lifelong insulin.
  • Transient neonatal diabetes mellitus 3 (TNDM3)
    • Neonatal diabetes mellitus, with insulin-requiring hyperglycaemia within the first month of life
      • In about 50% the diabetes is transient and resolves at a median age of 3 months
    • Increased risk Type 2 diabetes later
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