Hypoplastic glomerulocystic kidney disease and hepatoblastoma: a potential association not caused by mutations in hepatocyte nuclear factor 1beta.
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.
Abdul-Rahman
Omar A
OA
Division of Medical Genetics, Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS, USA. oabdulrahman@prevmed.umsmed.edu
Edghill
Emma L
EL
Kwan
Andrea
A
Enns
Gregory M
GM
Hattersley
Andrew T
AT
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
D051539:Hepatocyte Nuclear Factor 1-beta