title: Maturity-onset diabetes of the young with end-stage nephropathy: a new indication for simultaneous pancreas and kidney transplantation?
abstract: BACKGROUND AND CASE: Simultaneous pancreas and kidney transplantation (SPK) is applied almost exclusively in C-peptide-negative type 1 diabetic patients, although some data on SPK in type 2 diabetes have been published as well. Nothing is known about SPK in the autosomal diabetes form, maturity-onset diabetes of the young (MODY). SPK was performed in a 47-year old man who has MODY3 because of a Arg272His mutation in the hepatocyte nuclear factor-1alphagene. He developed overt diabetes mellitus at 19 years and end-stage diabetic nephropathy 26 years thereafter. Before SPK, the patient had measurable fasting serum C-peptide levels, but lacked beta-cell response to intravenous glucose and glucagon. He was treated with 34 IU of insulin per day. At 2 years post-transplantation, the patient remains normoglycemic and insulin independent. A hyperglycemic clamp test showed a normal beta-cell function.
  
  
  CONCLUSIONS
  Identification of MODY3 among all C-peptide-positive patients with advanced diabetic nephropathy might help to select a specific group profiting from SPK.
authors.affiliation: Diabetes Center, Institute for Clinical and Experimental Medicine, Praha, Czech Republic.
authors.forename: Frantisek
authors.initials: F
authors.lastname: Saudek
authors.forename: Stepánka
authors.initials: S
authors.lastname: Průhová
authors.forename: Peter
authors.initials: P
authors.lastname: Boucek
authors.forename: Jan
authors.initials: J
authors.lastname: Lebl
authors.forename: Milos
authors.initials: M
authors.lastname: Adamec
authors.forename: Jakob
authors.initials: J
authors.lastname: Ek
authors.forename: Oluf
authors.initials: O
authors.lastname: Pedersen
authors.forename: Torben
authors.initials: T
authors.lastname: Hansen
mesh_terms: D002096:C-Peptide / Q000097:blood; D004268:DNA-Binding Proteins / Q000235:genetics; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics / Q000503:physiopathology / Q000601:surgery*; D003928:Diabetic Nephropathies / Q000503:physiopathology / Q000601:surgery*; D015309:Glucose Clamp Technique; D005951:Glucose Tolerance Test; D051537:Hepatocyte Nuclear Factor 1; D051538:Hepatocyte Nuclear Factor 1-alpha; D006801:Humans; D016030:Kidney Transplantation / Q000502:physiology; D008297:Male; D008875:Middle Aged; D009687:Nuclear Proteins / Q000235:genetics; D016035:Pancreas Transplantation / Q000502:physiology; D017354:Point Mutation; D014157:Transcription Factors / Q000235:genetics
chemical_list: D002096:C-Peptide; D004268:DNA-Binding Proteins; C496487:HNF1A protein, human; D051538:Hepatocyte Nuclear Factor 1-alpha; D009687:Nuclear Proteins; D014157:Transcription Factors; D051537:Hepatocyte Nuclear Factor 1