Two Cases of Diabetic Ketoacidosis in HNF1A-MODY Linked to Severe Dehydration: Is it time to change the diagnostic criteria for MODY?

OBJECTIVE: Hepatocyte nuclear factor-1A maturity-onset diabetes of the young (HNF1A-MODY) is a monogenic form of diabetes caused by heterozygous mutations in HNF1A. Currently, a history of diabetic ketoacidosis (DKA) is an exclusion criterion for genetic testing for MODY. HISTORY AND EXAMINATION: In this article, we describe two unrelated patients aged 17 and 24 years with severe DKA developed several years after the diagnosis of HNF1A-MODY. INVESTIGATION: Both patients were treated with insulin, but their metabolic control was poor (HbA(1c) 15%, 140 mmol/mol and 13%, 119 mmol/mol, respectively) due to noncompliance and missed insulin injections. In both patients, DKA followed a course of recurrent vomiting with dehydration and prerenal acute kidney injury. Their glycemia, blood pH, and base excess at admission were 97 mmol/L [1,748 mg/dL], 6.80, and −33 mmol/L (patient 1) and 34 mmol/L [613 mg/dL], 7.03, and −14 mmol/L (patient 2). CONCLUSIONS: This anecdotal observation supports the notion that a history of DKA does not exclude MODY.