X-linked hypophosphatemic rickets: Diagnosis in adult and paucisymptomatic form

Abstract

X-linked hypophosphataemic rickets (XLH) is the main form of hereditary rickets caused by mutation of the PHEX gene and occurs mainly in childhood. Clinically, it causes growth retardation and bone deformities; however, there are atypical forms of presentation that make diagnosis difficult. We present a case of XLH of late diagnosis and paucisymptomatic form with multiple fractures and greatly affecting quality of life, under treatment with traditional therapy for this disease.

Keywords: Burosumab; Osteomalacia; Raquitismo hipofosfatémico ligado al cromosoma X; X-linked hypophosphataemic rickets.