Pancreatic Exocrine Dysfunction in Maturity-Onset Diabetes of the Young Type 3

  1. Mette Vesterhus, MD12,
  2. Helge Ræder, MD, PHD12,
  3. Stefan Johansson, PHD23,
  4. Anders Molven, PHD45 and
  5. Pål R. Njølstad, MD, PHD12
  1. 1Department of Pediatrics, Haukeland University Hospital, Bergen, Norway
  2. 2Department of Clinical Medicine, University of Bergen, Bergen, Norway
  3. 3Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway
  4. 4Gade Institute, University of Bergen, Bergen, Norway
  5. 5Department of Pathology, Haukeland University Hospital, Bergen, Norway
  1. Address correspondence and reprint requests to Professor Pål Rasmus Njølstad, MD, PhD, Section for Pediatrics, Department of Clinical Medicine, University of Bergen, N-5020 Bergen, Norway. E-mail: pal.njolstad{at}uib.no

Abstract

OBJECTIVE—Exocrine pancreas dysfunction is seen in 10–30% of patients with type 1 and 2 diabetes. We have recently identified a syndrome of diabetes and exocrine pancreas dysfunction attributable to mutations in the carboxyl ester lipase (CEL) gene. We wanted to investigate the prevalence of pancreatic exocrine dysfunction in patients with maturity-onset diabetes of the young type 3 (MODY3).

RESEARCH DESIGN AND METHODS—All 119 patients with MODY3 in the Norwegian MODY Registry were invited to participate, and 70 (60.5%) responded, among whom 63 were adults. Control groups included 140 subjects with type 1 diabetes and 78 nondiabetic control subjects. Pancreatic dysfunction was defined by fecal elastase deficiency. Fecal fat excretion was measured in 25 patients with fecal elastase deficiency. CEL was investigated for sequence changes.

RESULTS—We found a prevalence of fecal elastase deficiency of 12.7% in adult patients with MODY3, compared with 18.6% in patients with type 1 diabetes and 3.8% in nondiabetic control subjects. The six patients with MODY3 with fecal elastase deficiency available for analysis all had increased fecal fat excretion. Fecal elastase decreased with age. Controlled for age, patients with MODY3 still had decreased fecal elastase compared with control subjects. Twelve of 70 patients (17%) had single-base insertions in CEL exon 11. Two of these had fecal elastase deficiency.

CONCLUSIONS—The prevalence of pancreatic exocrine dysfunction was 12.7% in a cohort of 63 adult patients with MODY3, similar to the prevalence among type 1 diabetic patients. Fecal fat excretion was increased in all patients with MODY3 with fecal elastase deficiency who were investigated, underscoring the potential clinical importance of the exocrine dysfunction.

Footnotes

  • Published ahead of print at http://care.diabetesjournals.org on 5 November 2007. DOI: 10.2337/dc07-1002.

    The costs of publication of this article were defrayed in part by the payment of page charges. This article must therefore be hereby marked “advertisement” in accordance with 18 U.S.C. Section 1734 solely to indicate this fact.

    • Accepted October 21, 2007.
    • Received May 25, 2007.
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  1. Published online before print November 5, 2007, doi: 10.2337/dc07-1002 Diabetes Care February 2008 vol. 31 no. 2 306-310
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