title: Diabetic ketoacidosis in the setting of HNF1A-maturity onset diabetes of the young.
abstract: 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.
authors.affiliation: Department of Endocrinology and Diabetes Mellitus, Galway Diabetes Research Centre, Galway, Ireland.
authors.forename: Aoife M
authors.initials: AM
authors.lastname: Egan
authors.affiliation: Department of Endocrinology and Diabetes Mellitus, Galway Diabetes Research Centre, Galway, Ireland.
authors.forename: Aine
authors.initials: A
authors.lastname: Cunningham
authors.affiliation: Department of Endocrinology and Diabetes Mellitus, Galway Diabetes Research Centre, Galway, Ireland King's College Hospital, London, UK.
authors.forename: Bahram
authors.initials: B
authors.lastname: Jafar-Mohammadi
authors.affiliation: Department of Endocrinology and Diabetes Mellitus, Galway Diabetes Research Centre, Galway, Ireland.
authors.forename: Fidelma P
authors.initials: FP
authors.lastname: Dunne
mesh_terms: D000328:Adult; D003922:Diabetes Mellitus, Type 1 / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics*; D016883:Diabetic Ketoacidosis / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy; D005260:Female; D005820:Genetic Testing; D051538:Hepatocyte Nuclear Factor 1-alpha / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D055118:Medication Adherence; D013453:Sulfonylurea Compounds / Q000008:administration & dosage* / Q000627:therapeutic use
chemical_list: D051538:Hepatocyte Nuclear Factor 1-alpha; D013453:Sulfonylurea Compounds
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