title: Hypoplastic glomerulocystic kidney disease and hepatoblastoma: a potential association not caused by mutations in hepatocyte nuclear factor 1beta.
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.
authors: Division of Medical Genetics, Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS, USA. oabdulrahman@prevmed.umsmed.edu
authors: Omar A
authors: OA
authors: Abdul-Rahman
authors: Emma L
authors: EL
authors: Edghill
authors: Andrea
authors: A
authors: Kwan
authors: Gregory M
authors: GM
authors: Enns
authors: Andrew T
authors: AT
authors: Hattersley
mesh_terms: D018197:Hepatoblastoma / Q000150:complications* / Q000235:genetics / Q000601:surgery; D051539:Hepatocyte Nuclear Factor 1-beta / Q000235:genetics*; D006801:Humans; D007223:Infant; D008113:Liver Neoplasms / Q000150:complications* / Q000235:genetics / Q000601:surgery; D016031:Liver Transplantation; D008297:Male; D009154:Mutation; D007690:Polycystic Kidney Diseases / Q000150:complications* / Q000235:genetics
chemical_list: D051539:Hepatocyte Nuclear Factor 1-beta