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Pancreatic Exocrine Dysfunction in MODY3

¹Department of Pediatrics, Haukeland University Hospital, Bergen, Norway
²Department of Clinical Medicine, University of Bergen, Bergen, Norway
³Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway
⁴The Gade Institute, University of Bergen, Bergen, Norway
⁵Department of Pathology, Haukeland University Hospital, Bergen, Norway

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 due to mutations in the carboxyl ester lipase (CEL) gene. We wanted to investigate the prevalence of pancreatic exocrine dysfunction in MODY3 patients.

Research Design and Methods: All 119 MODY3 patients in the Norwegian MODY Registry were invited to participate, and 70 (60.5%) responded, among them 63 adults. Control groups included 140 subjects with type 1 diabetes and 78 non-diabetic controls. 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 MODY3 patients, compared to 18.6% in patients with T1D and 3.8% in non-diabetic controls. The six MODY3 patients with fecal elastase deficiency available for analysis all had increased fecal fat excretion. Fecal elastase decreased with age. Controlled for age, MODY3 patients still had decreased fecal elastase compared to controls. 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 MODY3 patients, similar to the prevalence among T1D patients. Fecal fat excretion was increased in all investigated MODY3 patients with fecal elastase deficiency, underscoring the potential clinical importance of the exocrine dysfunction.

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