Hypoplastic glomerulocystic kidney disease and hepatoblastoma: a potential association not caused by mutations in hepatocyte nuclear factor 1beta

J Pediatr Hematol Oncol. 2009 Jul;31(7):527-9. doi: 10.1097/MPH.0b013e3181a974c8.

Abstract

Hypoplastic glomerulocystic kidney disease is an autosomal dominant disorder caused by mutations in hepatocyte nuclear factor-1beta. Hepatoblastoma is a sporadic occurring tumor of embryonal origin that has been associated with the several overgrowth syndromes. We report a case of concomitant hypoplastic glomerulocystic kidney disease and hepatoblastoma. Review of the literature identified 4 other patients with a similar association. We propose that hypoplastic glomerulocystic kidney disease and hepatoblastoma represent a possible association, and we excluded mutations in hepatocyte nuclear factor-1beta in our patient as causative of this putative association.

Publication types

  • Case Reports

MeSH terms

  • Hepatoblastoma / complications*
  • Hepatoblastoma / genetics
  • Hepatoblastoma / surgery
  • Hepatocyte Nuclear Factor 1-beta / genetics*
  • Humans
  • Infant
  • Liver Neoplasms / complications*
  • Liver Neoplasms / genetics
  • Liver Neoplasms / surgery
  • Liver Transplantation
  • Male
  • Mutation
  • Polycystic Kidney Diseases / complications*
  • Polycystic Kidney Diseases / genetics

Substances

  • Hepatocyte Nuclear Factor 1-beta