hrp0092p2-57 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

A Novel Mutation of Phex Gene Inducing X-Linked Hypophosphatemia Rickets, A Case Report

Pinto Renata , Francisco Mendes Arthur , Barbosa Julio Montes , Steinmetz Lucas

Introduction: X-linked hypophosphatemic rickets (XHR) is the most common form of hereditary rickets, with an estimated incidence of 1: 20.000 individuals. The main characteristic of the disease is excessive renal phosphate loss, which leads to hypophosphatemia with high phosphaturia and defective bone mineralization.XHR results from mutations in the in the PHEX gene (Phosphate Regulatory Gene with Homology for Endopeptidases located on t...