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Burosumab Therapy for X-Linked Hypophosphatemia and Therapeutic Implications for CKD

key information

source: Clinical Journal of the American Society of Nephrology

year: 2019

authors: Farzana Perwad, Anthony A. Portale


X-linked hypophosphatemia (XLH) is the most common heritable cause of hypophosphatemic rickets, and it is characterized by hypophosphatemia due to kidney phosphate wasting, deficiency of 1,25-dihydroxyvitamin D [1,25(OH)2D], rickets, and osteomalacia . Clinical features manifest as early as 6 months of age; children develop deformities of the lower extremities, including coxa vara, genu varus and valgus, and tibial bowing, and they often have short stature. Characteristic laboratory findings are serum phosphorus levels below normal for age, increased fractional excretion of phosphorus, and low or inappropriately normal serum 1,25(OH)2D. 

Radiographs in children demonstrate classic findings of rickets with metaphysical cupping and fraying, increased radiolucency, and lower limb deformities. In adults, joint pain and osteoarthritis can result from childhood skeletal deformities, and fractures and pseudofractures develop due to chronic hypophosphatemia and osteomalacia. Over time, individuals with XLH develop enthesopathy, spinal stenosis, dental caries and abscesses, and hearing loss. Thus, XLH is a lifelong, debilitating disease with significant morbidity; patients have diminished quality of life, and the psychosocial effect of the disease is largely underestimated.


organization: University of California, USA

DOI: 10.2215/CJN.15201218

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