Maturity-onset diabetes of the young with end-stage nephropathy: a new indication for simultaneous pancreas and kidney transplantation?

Transplantation. 2004 Apr 27;77(8):1298-301. doi: 10.1097/01.tp.0000119721.35506.a7.

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.

Conclusion: Identification of MODY3 among all C-peptide-positive patients with advanced diabetic nephropathy might help to select a specific group profiting from SPK.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • C-Peptide / blood
  • DNA-Binding Proteins / genetics
  • Diabetes Mellitus, Type 2 / genetics
  • Diabetes Mellitus, Type 2 / physiopathology
  • Diabetes Mellitus, Type 2 / surgery*
  • Diabetic Nephropathies / physiopathology
  • Diabetic Nephropathies / surgery*
  • Glucose Clamp Technique
  • Glucose Tolerance Test
  • Hepatocyte Nuclear Factor 1
  • Hepatocyte Nuclear Factor 1-alpha
  • Humans
  • Kidney Transplantation* / physiology
  • Male
  • Middle Aged
  • Nuclear Proteins / genetics
  • Pancreas Transplantation* / physiology
  • Point Mutation
  • Transcription Factors / genetics

Substances

  • C-Peptide
  • DNA-Binding Proteins
  • HNF1A protein, human
  • Hepatocyte Nuclear Factor 1-alpha
  • Nuclear Proteins
  • Transcription Factors
  • Hepatocyte Nuclear Factor 1