Pancreatic exocrine insufficiency is not common in HNF-1α MODY

Aims Exocrine pancreatic insufficiency has been described in Type 1 and Type 2 diabetes. The hepatocyte nuclear factor (HNF)-1 alpha gene associated with maturity-onset diabetes of the young (MODY3) is expressed in several organs, including the exocrine pancreas. The aim of this study was to determine the prevalence of exocrine pancreas dysfunction in HNF-1 alpha MODY patients. Methods Thirty-one diabetic HNF-1 alpha MODY patients (mean age 37.2 +/- 14.6 years) and 35 healthy control subjects (39.1 +/- 13.9 years) participated. In addition, 25 Type 1 diabetic (T1DM) subjects were also examined (mean age 30.6 +/- 10.1 years). Exocrine pancreas function was assessed by measurement of stool elastase 1 (E1) activity. All diabetic patients and control subjects completed a gastrointestinal (GI) symptoms questionnaire. Results In all but two individuals, stool E1 levels were normal (> 200 mu g/g). The only case of severely impaired pancreas exocrine function (E1 = 47.5 mu g/g) was observed in the MODY3 group. The mean stool E1 elastase level in the HNF-1 alpha MODY group was significantly lower than in the control subjects (401.0 +/- 118.4 vs. 482.7 +/- 151.1 mu g/g, P = 0.001). Similarly, E1 levels in T1DM were lower than in control subjects (344.8 +/- 132.1 mu g/g, P = 0.001); one patient with a moderate enzyme decrease was identified in this group. In addition, more frequent GI complaints were reported by HNF-1 alpha MODY patients when compared with control subjects and also with T1DM patients. Conclusion Pancreatic exocrine insufficiency is not common in HNF-1 alpha MODY diabetic patients, although their stool E1 levels are lower than in healthy control subjects.