Pruhova S, Dusatkova P, Neumann D, Hollay E, Cinek O, Lebl J, Sumnik Z. Diabetes Care. 2013 Sep;36(9):2573–4. doi: 10.2337/dc13-0058. Epub 2013 Apr 22. IF: 7.735
Department of Paediatrics
Abstract
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 (HbA1c 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.
