title: Pancreatic exocrine dysfunction in maturity-onset diabetes of the young type 3.
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).
  
  
  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.
authors.affiliation: Department of Pediatrics, Haukeland University Hospital, Bergen, Norway.
authors.forename: Mette
authors.initials: M
authors.lastname: Vesterhus
authors.forename: Helge
authors.initials: H
authors.lastname: Raeder
authors.forename: Stefan
authors.initials: S
authors.lastname: Johansson
authors.forename: Anders
authors.initials: A
authors.lastname: Molven
authors.forename: Pål R
authors.initials: PR
authors.lastname: Njølstad
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D003922:Diabetes Mellitus, Type 1 / Q000201:enzymology; D003924:Diabetes Mellitus, Type 2 / Q000201:enzymology / Q000235:genetics / Q000503:physiopathology*; D004797:Enzyme-Linked Immunosorbent Assay; D005243:Feces / Q000201:enzymology; D005260:Female; D051538:Hepatocyte Nuclear Factor 1-alpha / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009664:Norway / Q000453:epidemiology; D010179:Pancreas / Q000201:enzymology / Q000503:physiopathology*; D010196:Pancreatic Elastase / Q000172:deficiency* / Q000378:metabolism; D012016:Reference Values; D011795:Surveys and Questionnaires
chemical_list: C496487:HNF1A protein, human; D051538:Hepatocyte Nuclear Factor 1-alpha; D010196:Pancreatic Elastase