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

Omar A. Abdul-Rahman, Emma L. Edghill, Andrea Kwan, Gregory M. Enns, Andrew T. Hattersley

Research output: Contribution to journalArticle

5 Scopus citations

Abstract

Hypoplastic glomerulocystic kidney disease is an autosomal dominant disorder caused by mutations in hepatocyte nuclear factor-1β. 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-1β in our patient as causative of this putative association.

Original languageEnglish (US)
Pages (from-to)527-529
Number of pages3
JournalJournal of Pediatric Hematology/Oncology
Volume31
Issue number7
DOIs
StatePublished - Jul 2009

Keywords

  • Glomerulocystic kidney disease
  • Hepatoblastoma
  • Hepatocyte nuclear factor
  • Hypoplastic glomerulocystic kidney disease
  • Polycystic kidney disease

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology

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