HNF1B-MODY (MODY 5)

Diabetes caused by mutations in the HNF1-beta gene (encoding hepatocyte nuclear factor-1 beta) is a less common type of MODY. This gene contains is a blueprint for a transcription factor that is important in for the normal development of beta cells, the kidneys, kidney tracts and the uterus.

Presentation:

MODY 5 often result in diabetes in combination with a structural kidney or kidney tract problem.

Mutations can occur spontaneously but usually are passed on from a parent to a child. If a parent has MODY 5 there is a 50% chance that a child will inherit the mutation and be at risk of developing diabetes at a young age.

Distinguishing MODY 5 from other forms of diabetes include

  • 2 or 3 generations of diabetes
  • A family history of renal cysts
  • A family history of structural problems of the uterus or kidneys
  • No history of diabetic ketoacidosis

Treatment:

Unlike other forms of MODY, patients with MODY 5 do not necessarily respond well to oral medications like sulfonylureas.

Inheritance:

Finding an HNF1B mutation in a patient’s family may have implications for other family members- who may be carriers as well. An affected person’s child will each be at a 50% risk of inheriting the mutation and developing diabetes.

Research:

If you or a family member have MODY 5 or suspect yourself or a family member of having MODY 5 then please contact us to learn more about our studies.