低磷性佝偻病研究新进展

New advance in hypophosphatemic rickets

低磷性佝偻病是一组因各种原因导致的肾失磷性代谢性骨病,临床可出现低磷血症、下肢骨骼畸形、矮身材等。低磷佝偻病中最常见的是X连锁显性遗传性佝偻病(XLH),成纤维细胞生长因子23(FGF23)在其发病机制中占重要地位,而阻断FGF23的过多产生成为治疗XLH的新靶点。随着Burosumab在儿童和成人XLH病例中1~3期临床试验的开展,相比于传统治疗中使用的磷酸盐和骨化三醇,前者的有效性和安全性均优于后者。现就低磷性佝偻病的发病机制和治疗进展进行阐述,以提高对该病的认识。

Hypophosphatemic rickets(HR) is a bone mineralization disorder caused by phosphate wasting, including hypophosphatemia, bone abnormalities and short stature.X-linked hypophosphatemia(XLH) is the most common inherited disease related to phosphate metabolism, which might result in elevated levels of fibroblast growth factor 23 (FGF23). FGF23 plays an important role in the disease mechanism, so a human anti-FGF23 antibody is developed as a potential treatment for XLH.In many clinical trials, subcutaneous Burosumab increased serum phosphorus levels in pediatric and adult patients with XLH.With the development of phase 1-3 clinical trials of Burosumab in children and adults with XLH, the efficacy and safety of Burosumab is proven to be superior to that of phosphate and calcitriol used in traditional therapy.This review aims to investigate the physiopathology and treatment of HR and to enhance the recognition of HR.