Whole-body bone scan findings in X-linked hypophosphatemia.

Abstract

X-linked hypophosphatemia, also called phosphate diabetes, is the most frequent form of inherited rickets in North American. In a series of 38 untreated adult X-linked hypophosphatemia patients, Hardy et al suggested that scintigraphic findings may be attributed solely to degenerative arthritis. However, the authors present a 31-year old, drug-free, X-linked hypophosphatemia patient, in whom bone scan findings were more compatible with osteomalacia and secondary degenerative arthritis, rather than with isolated degenerative arthritis. These findings are in agreement with the biochemical and histologic proof of active osteomalacia in untreated adult X-linked hypophosphatemia patients, provided by Reid et al. The first whole-body bone images of X-linked hypophosphatemia are presented.