X-连锁低磷性佝偻病(X-linked hypophOSphatemic rickets,XLH)是最常见的遗传性佝偻病,发病率为1∶12 000,占家族性低磷性佝偻病的80%以上。多数于婴儿期后发病,表现为身材矮小、骨骼畸形,血生化改变为低磷血症、碱性磷酸酶活性增高等。该病的遗传方式为X-连锁显性遗传,因此女性患 X-linked hypophosphatemic rickets (XLH) are the most common hereditary rickets with a prevalence of 1: 12 000, accounting for more than 80% of familial hypophosphatemic rickets. The majority of the disease after infancy, manifested as short stature, skeletal deformity, blood biochemical changes to hypophosphatemia, alkaline phosphatase activity increased. The hereditary pattern of the disease is X-linked dominant and therefore feminine