X-连锁低血磷性佝偻病的治疗现状及展望

X-连锁低血磷性佝偻病(XLH)属于遗传性代谢性骨病,发病机制复杂,在临床上较为罕见,其主要临床表现为骨骼畸形及身材矮小,致残率高,因而针对XLH进行及早诊断及治疗对患者康复具有极为重要的意义。传统治疗以补充磷酸盐和维生素D类似物为主,随着学者对XLH病理机制研究逐渐深入,分子靶向治疗等新型治疗方式横空出世,通过多学科联合诊断及治疗的方法为患者带去了福音。本文就XLH的临床特征、发病遗传机制、治疗现状及治疗的未来发展趋势进行综述。

Current situation and prospect of X-linked hypophosphatemia rickets

X-linked hypophosphatemia rickets(XLH) is a hereditary metabolic bone disease with a complex pathogenesis and is relatively rare clinically. Its main clinical manifestations are skeletal malformation and short stature with a high disability rate. Therefore, early diagnosis and treatment of XLH is of great significance to the rehabilitation of patients. Traditional treatment mainly focuses on supplementing phosphate and vitamin D analogue. With the gradual deepening of scholars′ research on the pathological mechanism of XLH, new therapeutic methods such as molecular targeted therapy have emerged, bringing good news to patients through multidisciplinary joint diagnosis and treatment. In this paper, the clinical characteristics, pathogenesis, treatment status and future development trend of XLH will be reviewed.