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

Overview

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 date

  • July 1, 2009

Research

keywords

  • Hepatoblastoma
  • Hepatocyte Nuclear Factor 1-beta
  • Liver Neoplasms
  • Polycystic Kidney Diseases

Identity

Scopus Document Identifier

  • 67650293841

Digital Object Identifier (DOI)

  • 10.1097/MPH.0b013e3181a974c8

PubMed ID

  • 19564751

Additional Document Info

volume

  • 31

issue

  • 7