title: Lack of pancreatic body and tail in HNF1B mutation carriers.
abstract: OBJECTIVE
  Hepatocyte nuclear factor 1B (HNF1B) gene mutation carriers have a systemic disease characterized by congenital malformations in the urogenital tract, diabetes mellitus of maturity-onset diabetes of the young type and dysfunction of the liver and exocrine pancreas. We aimed to investigate pancreatic structure and exocrine function in carriers of HNF1B mutations.
  
  
  METHODS
  We studied five subjects from two families with the previously reported mutation R137_K161del and the novel mutation F148L in HNF1B. All patients underwent computed tomography (CT) and magnetic resonance cholangiopancreatography (MRCP). We measured faecal elastase and serum vitamins D and E.
  
  
  RESULTS
  One of the mutation carriers reported abdominal symptoms. All five subjects had faecal elastase deficiency, three had vitamin D deficiency and two had vitamin E deficiency. Neither CT nor MRCP depicted tissue corresponding to the pancreatic body and tail in the five mutation carriers, indicating agenesis of the dorsal pancreas. The head of the pancreas was slightly atrophic but had normal X-ray attenuation at CT in all patients.
  
  
  CONCLUSIONS
  Agenesis of the pancreatic body and tail and pancreatic exocrine dysfunction are parts of the phenotype in HNF1B mutation carriers. This strengthens the evidence for a critical role of HNF1B in development and differentiation of at least the dorsal pancreas.
authors.affiliation: Department of Radiology, Haukeland University Hospital, Bergen, Norway.
authors.forename: I S
authors.initials: IS
authors.lastname: Haldorsen
authors.forename: M
authors.initials: M
authors.lastname: Vesterhus
authors.forename: H
authors.initials: H
authors.lastname: Raeder
authors.forename: D K
authors.initials: DK
authors.lastname: Jensen
authors.forename: O
authors.initials: O
authors.lastname: Søvik
authors.forename: A
authors.initials: A
authors.lastname: Molven
authors.forename: P R
authors.initials: PR
authors.lastname: Njølstad
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D005260:Female; D051539:Hepatocyte Nuclear Factor 1-beta / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010179:Pancreas / Q000002:abnormalities*; D046790:Pancreas, Exocrine / Q000473:pathology; D010375:Pedigree
chemical_list: D051539:Hepatocyte Nuclear Factor 1-beta