HNF1B-related diabetes triggered by renal transplantation

Nat Rev Nephrol. 2009 Aug;5(8):480-4. doi: 10.1038/nrneph.2009.98.

Abstract

Background: A 37-year-old man developed cholestasis-associated pruritus followed by overt hyperglycemia (blood glucose level 23 mmol/l), necessitating insulin treatment, within weeks of undergoing renal transplantation. He had a history of gout, but his fasting blood glucose and glycated hemoglobin concentrations had been normal before transplantation.

Investigations: Physical examination; laboratory tests, including assessment of glycated hemoglobin, anti-glutamic-acid-decarboxylase and anti-islet-antigen-2 antibodies, liver enzymes, renal function, tacrolimus blood trough level, exocrine (fecal elastase) and endocrine (C-peptide) pancreatic function; abdominal CT scan; liver biopsy; and screening of the hepatocyte nuclear factor 1 homeobox B (transcription factor 2) gene, HNF1B.

Diagnosis: New-onset diabetes after transplantation associated with a newly described deletion in HNF1B.

Management: Minimization of tacrolimus exposure and withdrawal of steroids considerably reduced the patient's insulin requirement, and cholestasis-related pruritus was dramatically improved by administration of ursodeoxycholic acid. Renal ultrasonography and screening for the HNF1B molecular abnormality were offered to the patient's relatives.

Publication types

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

MeSH terms

  • Adult
  • Cholestasis / immunology
  • Diabetes Mellitus, Type 2 / diagnosis
  • Diabetes Mellitus, Type 2 / genetics*
  • Diabetes Mellitus, Type 2 / immunology
  • Diagnosis, Differential
  • Frameshift Mutation
  • Hepatocyte Nuclear Factor 1-beta / genetics*
  • Humans
  • Immunosuppressive Agents / therapeutic use
  • Kidney Transplantation* / immunology
  • Male
  • Pruritus / immunology

Substances

  • HNF1B protein, human
  • Immunosuppressive Agents
  • Hepatocyte Nuclear Factor 1-beta