Abstract
Vitamin resistant rickets and osteomalacia are rare disorders, usually associated with abnormal serum calcium and/or phosphate. Rickets correspond to mineralization abnormalities on the bone of a growing skeleton, as opposed to osteomalacia, an abnormality of mineralization of an adult bone. Renal phosphate loss is the main cause of vitamin-resistant rickets/osteomalacia, and is linked to a dysregulation of the FGF-23 pathway. The diagnosis of rickets or osteomalacia is based on clinical history, phosphocalcic metabolism assessment and, if necessary, molecular characterization. This diagnosis must be rapid to initiate the most appropriate treatment and discuss new treatments such as burosumab if necessary. This review aims to do an overview of the pathophysiology of vitamin-resistant rickets/osteomalacia (especially related to renal phosphate loss) and to describe the different subtypes of rickets and their differential diagnosis.
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