Title:Hereditary Rickets. How Genetic Alterations Explain the Biochemical and Clinical Phenotypes
Volume: 13
Issue: 4
Author(s): Anna Papadopoulou, Evaggelia Gole and Polyxeni Nicolaidou
Affiliation:
Keywords:
FGF23, Klotho, Phosphorus, Rickets, Vitamin D, VDR.
Abstract: The reemergence of vitamin D deficiency in the industrialized countries resurrects the “threat” of nutritional
rickets, especially among pediatric populations, a fact that may lead to underdiagnosis of hereditary rickets. Today,
hereditary rickets may be subdivided into two main groups according to their biochemical profile: the one associated with
defects in vitamin D synthesis and action and the second associated with abnormal phosphorus metabolism. The
classification of the patients in a particular group of hereditary rickets is determinative of the treatment to follow. This
review, through the recent advances on vitamin D and P metabolism, discusses the molecular and biochemical defects
associated to each group of inherited rickets, as well as the clinical phenotypes and the recommended therapeutic
approaches.
