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

Luis Carlos López-Romero; Jose Jesús Broseta; Elena Guillén Olmos; Ramón Jesús Devesa-Such; Julio Hernández-Jaras

doi:10.1016/j.reuma.2019.07.007

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

Reumatol Clin (Engl Ed). 2021 Feb;17(2):116-117. doi: 10.1016/j.reuma.2019.07.007. Epub 2019 Nov 6.

[Article in English, Spanish]

Authors

Luis Carlos López-Romero¹, Jose Jesús Broseta², Elena Guillén Olmos², Ramón Jesús Devesa-Such³, Julio Hernández-Jaras³

Affiliations

¹ Servicio de Nefrología, Área Clínica del Riñón y Vías Urinarias, Hospital Universitari i Politècnic La Fe, Valencia, España. Electronic address: [email protected].
² Servei de Nefrología i Trasplantament Renal, Institut Clínic de Nefrología i Urología, Hospital Clínic de Barcelona, Barcelona, España.
³ Servicio de Nefrología, Área Clínica del Riñón y Vías Urinarias, Hospital Universitari i Politècnic La Fe, Valencia, España.

PMID: 31707095
DOI: 10.1016/j.reuma.2019.07.007

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.

Publication types

Case Reports