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X-linked hypophosphatemic rickets: Diagnosis in adult and paucisymptomatic form
Luis Carlos López-Romero1, Jose Jesús Broseta2, Elena Guillén Olmos2
1Servicio de Nefrología, Área Clínica del Riñón y Vías Urinarias, Hospital Universitari i Politècnic La Fe, Valencia, España.
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.
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