Evaluation and treatment of heritable forms of rickets

Hereditary rickets is increasingly recognized as a major form of skeletal d isease in children. This group of disorders results from defects that are c onsidered primary derangements in either calcium or phosphate homeostasis. The clinical, biochemical, and radiographic features of various types of he reditary rickets are described. Establishment of the correct diagnosis of t he child presenting with rachitic disease is addressed. Specific therapeuti c guidelines and overall treat ment strategy are discussed, with a particul ar emphasis on the most frequently encountered form of hereditary rickets, X-linked hypophosphatemia.