Two Cases of Diabetic Ketoacidosis in HNF1A-MODY Linked to Severe Dehydration

Is It Time to Change the Diagnostic Criteria for MODY?

  1. Zdenek Sumnik, MD, PHD1
  1. 1Department of Paediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
  2. 2Department of Paediatrics, Faculty of Medicine Hradec Kralove, Charles University in Prague and University Hospital, Hradec Kralove, Czech Republic
  3. 3Department of Internal Medicine, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
  1. Corresponding author: Stepanka Pruhova, stepanka.pruhova{at}fnmotol.cz

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 [1748 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.

  • Received January 8, 2013.
  • Accepted February 19, 2013.

Readers may use this article as long as the work is properly cited, the use is educational and not for profit, and the work is not altered. See http://creativecommons.org/licenses/by-nc-nd/3.0/ for details.

This Article

  1. Diabetes Care
  1. All Versions of this Article:
    1. dc13-0058v1
    2. 36/9/2573 most recent