Familial Hypophosphatemic Rickets : Pathophysiology and Medical Management

Chronic hypophosphatemia is one major cause of rickets and osteomalacia in growing children (see Preface of this volume). There are acquired and congenital forms. In most instances, the acquired forms can be controlled by acting on the underlying cause (insufficient phosphate intake, increased renal loss secondary to a mesenchymal tumor, or an altered renal tubular function). The inherited syndromes, which will be the only hypophosphatemic states discussed in this chapter, present a challenge however, sometimes for diagnosis and always for management.