López-Romero Luis Carlos, Broseta Jose Jesús, Guillén Olmos Elena, Devesa-Such Ramón Jesús, Hernández-Jaras Julio
Servicio de Nefrología, Área Clínica del Riñón y Vías Urinarias, Hospital Universitari i Politècnic La Fe, Valencia, España.
Servei de Nefrología i Trasplantament Renal, Institut Clínic de Nefrología i Urología, Hospital Clínic de Barcelona, Barcelona, España.
Reumatol Clin (Engl Ed). 2021 Feb;17(2):116-117. doi: 10.1016/j.reuma.2019.07.007. Epub 2019 Nov 6.
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.
X连锁低磷性佝偻病（XLH）是由PHEX基因突变引起的遗传性佝偻病的主要形式，主要发生在儿童期。临床上，它会导致生长发育迟缓及骨骼畸形；然而，存在一些不典型的表现形式，这使得诊断变得困难。我们报告了一例诊断较晚且症状较少的XLH病例，该病例伴有多处骨折，对生活质量影响极大，目前正在接受针对这种疾病的传统治疗。
