Treatment of a Family with Vitamin D Resistant Hypophosphatemic Rickets.

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We report our experience of treating a family 3 children and their mother with hypophosphatemic rickets with short stature and genu varum. The ten year-old girl, 8 year-old boy and 5 year-old girl were treated with high dose Vitamin D3 for the first 2-4 years, then treatment was discontinued. The family was followed for 7 years. Wrist X-rays showed disappearance of cupping after initiation of treatment. Even after treatment cessation no recurrence of cupping occurred and normal growth was preserved. Weight bearing joints such as hips and knees also showed improvement in mineralization during treament, but mineralization defects, joint deformities and narrowing of joint spaces developed after cessation of treatment. These findings suggest that long-term Vit D3 treatment is necessary for weight bearing joints to prevent reccurrence of joints changes and also to maintain normal growth. The short stature (<-2SD) has remained during the 7 year follow-up period which may have been caused by the late start or discontinuation of Vit D3 therapy.
西日本整形・災害外科学会の論文