title: Severe pancreatic dysfunction but compensated nutritional status in monogenic pancreatic disease caused by carboxyl-ester lipase mutations.
abstract: OBJECTIVE
  The impact of pancreatic dysfunction in several diseases of the pancreas, including chronic pancreatitis and cystic fibrosis, is obscured by concomitant extra-pancreatic disease. Carboxyl-ester lipase-maturity-onset diabetes in the young (CEL-MODY) is a monogenic, highly penetrant and progressive pancreatic disease with no known primary extrapancreatic manifestations. It is characterized by low fecal elastase, steatorrhea, and development of diabetes mellitus. We sought to determine the nature of the exocrine dysfunction in CEL-MODY and relate the findings to clinical parameters of malnutrition.
  
  
  METHODS
  We examined CEL-MODY patients and control subjects by rapid, endoscopic secretin test and dynamic magnetic resonance imaging of the pancreas. The findings were related to the subjects' clinical status.
  
  
  RESULTS
  The CEL-MODY patients displayed severely reduced acinar function and moderately reduced ductal function of the pancreas compared with control subjects. Surprisingly, CEL-MODY patients did not have clinical or biochemical signs of malnutrition, except for subnormal levels of vitamin E. Vitamin E levels seemed to be directly related to pancreatic acinar function.
  
  
  CONCLUSIONS
  Pancreatic exocrine dysfunction in CEL-MODY is associated with severely reduced acinar and moderately reduced ductal dysfunction. Despite severely reduced exocrine pancreatic function, CEL-MODY patients revealed only minor signs of malnutrition.
authors.affiliation: From the *Department of Clinical Medicine, University of Bergen; Departments of †Pediatrics, ‡Radiology, §Medicine, and ∥Voss Hospital, Haukeland University Hospital; ¶Section for Pathology, The Gade Institute, University of Bergen; #Department of Pathology, Haukeland University Hospital; and **Section for Radiology, Department of Surgical Sciences, University of Bergen, Bergen, Norway.
authors.forename: Erling
authors.initials: E
authors.lastname: Tjora
authors.forename: Gaute
authors.initials: G
authors.lastname: Wathle
authors.forename: Trond
authors.initials: T
authors.lastname: Engjom
authors.forename: Friedemann
authors.initials: F
authors.lastname: Erchinger
authors.forename: Anders
authors.initials: A
authors.lastname: Molven
authors.forename: Lage
authors.initials: L
authors.lastname: Aksnes
authors.forename: Ingfrid Salvesen
authors.initials: IS
authors.lastname: Haldorsen
authors.forename: Georg
authors.initials: G
authors.lastname: Dimcevski
authors.forename: Pål Rasmus
authors.initials: PR
authors.lastname: Njølstad
authors.forename: Helge
authors.initials: H
authors.lastname: Ræder
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D002648:Child; D003924:Diabetes Mellitus, Type 2 / Q000201:enzymology* / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D006801:Humans; D008049:Lipase / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D044342:Malnutrition / Q000209:etiology; D008875:Middle Aged; D009154:Mutation; D009752:Nutritional Status; D046790:Pancreas, Exocrine / Q000503:physiopathology; D010182:Pancreatic Diseases / Q000201:enzymology* / Q000235:genetics* / Q000503:physiopathology; D010186:Pancreatic Function Tests; D012633:Secretin; D014811:Vitamin E Deficiency / Q000209:etiology; D055815:Young Adult
chemical_list: D012633:Secretin; C054621:CEL protein, human; D008049:Lipase