Article Text

Download PDFPDF
CASE REPORT
Diabetic ketoacidosis in the setting of HNF1A-maturity onset diabetes of the young

Summary

A female patient was treated for type 1 diabetes following presentation at 12 years of age with hyperglycaemia, polydipsia and weight loss. Eleven years later, while screening relatives attending a genetic diabetes clinic, she was identified as potentially harbouring a mutation in the hepatocyte nuclear factor 1A (HNF1A) gene. Biochemical testing supported the diagnosis of HNF1A-maturity onset diabetes of the young (MODY) and genetic screening was positive for a heterozygous mutation in the HNF1A gene. The patient transitioned from insulin to sulfonylurea therapy. Three years later, in the setting of poor metabolic control, the patient presented to the emergency department with a history of nausea, vomiting and palpitations. A diagnosis of diabetic ketoacidosis (DKA) was confirmed and successfully treated. Although a diagnosis of HNF1A-MODY is rarely considered in a patient with a history of DKA, we demonstrate that DKA is possible in the setting of non-compliance with sulfonylurea therapy.

Statistics from Altmetric.com

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.