家族性低リン血症性ビタミンD抵抗性くる病 (VDRR) の1症例

抄録

A case of familial hypophosphatemic vitamin D resistant rickets (VDRR) with bowleg deformity was reported. The case was a 2 Years and 4 months old girl whose mother was also VDRR. Medication with oral 1 α-OH-D₃ was done for 6 months, but deformity of the lower limb was not improved. So, lower limb osteotomy was performed when she became 3 years old. Osteotomy was combined with wedge banked bone transplantation and K-wire fixation. At 8 weeks after operation, callus formation was good. We think that drug therapy is not sufficient and corrective surgical procedure is necessary to improve advanced limb deformity of VDRR.