Bone hypomineralization: rickets and osteomalacia

Abstract

Mineralization of the growth plate and bone requires sufficient supply of calcium and phosphate in order to ensure an adequate linear growth and bone strength. In deficiency situations, the hardness and strength of bone decreases (osteomalacia) with typical alterations of the growth plates (rickets). The avoidable complications of acquired rickets can be life-threatening and therefore constitute major global health concerns. Typical clinical signs, laboratory parameters and radiological alterations should lead to a prompt diagnosis. Hereditary and acquired forms of rickets, such as X‑linked hypophosphatemia or hypophosphatasia are often diagnosed late, typical for rare diseases. The diagnosis, treatment and management of all types of rickets should be in the hands of tertiary specialists in pediatric osteology, who work in international rare diseases networks and in close collaboration with international patient advocacy groups.