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Vol. 17. Issue 2.
Pages 116-117 (February 2021)
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Vol. 17. Issue 2.
Pages 116-117 (February 2021)
Case Report
DOI: 10.1016/j.reumae.2019.07.003
X-linked hypophosphatemic rickets: Diagnosis in adult and paucisymptomatic form
Raquitismo hipofosfatémico ligado al cromosoma X: diagnóstico en la edad adulta y forma paucisintomática
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Luis Carlos López-Romeroa,
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luiscarloslopezromero@gmail.com

Corresponding author.
, Jose Jesús Brosetab, Elena Guillén Olmosb, Ramón Jesús Devesa-Sucha, Julio Hernández-Jarasa
a Servicio de Nefrología, Área Clínica del Riñón y Vías Urinarias, Hospital Universitari i Politècnic La Fe, Valencia, Spain
b Servei de Nefrología i Trasplantament Renal, Institut Clínic de Nefrología i Urología, Hospital Clínic de Barcelona, Barcelona, Spain
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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:
X-linked hypophosphataemic rickets
Osteomalacia
Burosumab
Resumen

El raquitismo hipofosfatémico ligado al cromosoma X (XLH) es la principal forma de raquitismo hereditario causada por la mutación del gen PHEX y que se manifiesta principalmente en la infancia. Clínicamente cursa con retraso en el crecimiento y deformidades óseas, sin embargo, existen formas de presentación atípicas que dificultan el diagnóstico. Presentamos un caso de XLH con diagnóstico tardío y forma paucisintomática que presenta múltiples fracturas y gran afectación en su calidad de vida, en tratamiento con la terapia clásica para esta enfermedad.

Palabras clave:
Raquitismo hipofosfatémico ligado al cromosoma X
Osteomalacia
Burosumab

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