Severe hyperglycemia after renal transplantation in a pediatric patient with a mutation of the hepatocyte nuclear factor-1beta gene

Am J Kidney Dis. 2002 Dec;40(6):1325-30. doi: 10.1053/ajkd.2002.36915.


After renal transplantation for congenital cystic kidney disease of unknown origin, a 14-year-old boy, who was previously normoglycemic, had "steroid-induced" diabetes mellitus, which was treated with insulin. Transplant failure from chronic rejection and subsequent transplant nephrectomy allowed discontinuation of corticosteroids, the gradual withdrawal of insulin and normoglycemia. The recent description of renal cysts and diabetes (RCAD) syndrome and a strong paternal family history of early-onset diabetes mellitus prompted genetic screening of the hepatocyte nuclear factor-1beta gene. A novel heterozygous frameshift mutation in exon 1 was identified, adding to the 12 kindreds thus far described. This case highlights the unmasking of the hyperglycemic component of the RCAD syndrome in the immediate postoperative period after renal transplantation and emphasizes the pleiotropic manifestations of this important genetic kidney disease.

Publication types

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

MeSH terms

  • Adolescent
  • Cysts / blood
  • Cysts / diagnosis
  • Cysts / diagnostic imaging
  • Cysts / genetics
  • DNA / blood
  • DNA Mutational Analysis / methods
  • DNA-Binding Proteins / genetics*
  • Diabetes Mellitus / blood
  • Diabetes Mellitus / genetics
  • Exons / genetics
  • Frameshift Mutation / genetics*
  • Genetic Carrier Screening
  • Hepatocyte Nuclear Factor 1-beta
  • Humans
  • Hyperglycemia / blood
  • Hyperglycemia / genetics*
  • Kidney Diseases / blood
  • Kidney Diseases / diagnosis
  • Kidney Diseases / diagnostic imaging
  • Kidney Diseases / genetics
  • Kidney Transplantation / adverse effects*
  • Leukocytes / chemistry
  • Male
  • Prenatal Diagnosis / methods
  • Syndrome
  • Transcription Factors / genetics*
  • Ultrasonography


  • DNA-Binding Proteins
  • HNF1B protein, human
  • Transcription Factors
  • Hepatocyte Nuclear Factor 1-beta
  • DNA