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.
- Glomerulocystic kidney disease
- Hepatocyte nuclear factor
- Hypoplastic glomerulocystic kidney disease
- Polycystic kidney disease
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health