HNF1B-related diabetes triggered by renal transplantation.

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.

• Authors: Julien Zuber, Christine Bellanné-Chantelot, Claire Carette, Guillaume Canaud, Sandrine Gobrecht, Khaled Gaha, Vincent Mallet, Frank Martinez, Eric Thervet, José Timsit, Christophe Legendre, Danièle Dubois-Laforgue
• Journal: Nature reviews. Nephrology (Nat Rev Nephrol) Vol. 5 Issue 8 Pg. 480-4 (Aug 2009) ISSN: 1759-507X [Electronic] England
• PMID: 19639018 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

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

Topics

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