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

Simon C. Waller, Lesley Rees, Adrian S. Woolf, Sian Ellard, Ewan R. Pearson, Andrew T. Hattersley, Coralie Bingham

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20 Citations (Scopus)

Abstract

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-1β 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.

Original languageEnglish
Pages (from-to)1325-1330
Number of pages6
JournalAmerican Journal of Kidney Diseases
Volume40
Issue number6
DOIs
Publication statusPublished - Dec 2002

Keywords

  • Diabetes mellitus (DM)
  • Hepatocyte nuclear factor-1β (HNF-1β)
  • Renal cysts
  • Transplantation

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