Abstract

Hyperparathyroidism-jaw tumor (HPT-JT) syndrome is a familial multi-tumor syndrome resulting from mutations in the HRPT2 tumor suppressor gene, which encodes a protein product named parafibromin. We review current knowledge of the renal manifestations of the HPT-JT syndrome, and examine recent advances in understanding the biological function of parafibromin.

Keywords: hyperparathyroidism-jaw tumor (hpt-jt)syndrome, renal disorders, cystic kidney disease, mixed epithelial-stromal tumor, hrpt2 tumor suppressor, saccharomyces cerevisiae