TY - JOUR

T1 - Maturity-onset diabetes of the young with end-stage nephropathy

T2 - a new indication for simultaneous pancreas and kidney transplantation?

AU - Saudek, Frantisek

AU - Pruhová, Stepánka

AU - Boucek, Peter

AU - Lebl, Jan

AU - Adamec, Milos

AU - Ek, Jakob

AU - Pedersen, Oluf

AU - Hansen, Torben

PY - 2004

Y1 - 2004

N2 - 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.

AB - 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.

KW - C-Peptide

KW - DNA-Binding Proteins

KW - Diabetes Mellitus, Type 2

KW - Diabetic Nephropathies

KW - Glucose Clamp Technique

KW - Glucose Tolerance Test

KW - Hepatocyte Nuclear Factor 1

KW - Hepatocyte Nuclear Factor 1-alpha

KW - Humans

KW - Kidney Transplantation

KW - Male

KW - Middle Aged

KW - Nuclear Proteins

KW - Pancreas Transplantation

KW - Point Mutation

KW - Transcription Factors

M3 - Journal article

C2 - 15114102

VL - 77

SP - 1298

EP - 1301

JO - Transplantation

JF - Transplantation

SN - 0041-1337

IS - 8

ER -