HNF1B-related diabetes triggered by renal transplantation.
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.


METHODS
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.


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


RESULTS
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.
Zuber
Julien
J
Service de Transplantation Rénale Adulte, Université Paris Descartes, Paris cedex 15, France. julien.zuber@nck.aphp.fr
Bellanné-Chantelot
Christine
C
Carette
Claire
C
Canaud
Guillaume
G
Gobrecht
Sandrine
S
Gaha
Khaled
K
Mallet
Vincent
V
Martinez
Frank
F
Thervet
Eric
E
Timsit
José
J
Legendre
Christophe
C
Dubois-Laforgue
Danièle
D
D000328:Adult; D002779:Cholestasis / Q000276:immunology; D003924:Diabetes Mellitus, Type 2 / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology; D003937:Diagnosis, Differential; D016368:Frameshift Mutation; D051539:Hepatocyte Nuclear Factor 1-beta / Q000235:genetics*; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D016030:Kidney Transplantation / Q000276:immunology; D008297:Male; D011537:Pruritus / Q000276:immunology
C496495:HNF1B protein, human; D007166:Immunosuppressive Agents; D051539:Hepatocyte Nuclear Factor 1-beta