Hypoplastic glomerulocystic kidney disease and hepatoblastoma: a potential association not caused by mutations in hepatocyte nuclear factor 1beta.
Journal - Journal of pediatric hematology/oncology : official journal of the American Society of Pediatric Hematology/Oncology (United States )
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.
|ISSN : ||1536-3678|
|Mesh Heading : ||Hepatoblastoma Hepatocyte Nuclear Factor 1-beta Humans Infant Liver Neoplasms Liver Transplantation Male Mutation Polycystic Kidney Diseases genetics surgery genetics surgery genetics|
|Mesh Heading Relevant : ||complications genetics complications complications|