Hereditary Rickets. How Genetic Alterations Explain the Biochemical and Clinical Phenotypes
Anna Papadopoulou, Evaggelia Gole and Polyxeni Nicolaidou
Pages 324-334 (11)
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
FGF23, Klotho, Phosphorus, Rickets, Vitamin D, VDR.
3rd Department of Pediatrics, Medical School, University of Athens, University General Hospital Attikon, 1, Rimini Str, 12462 Athens, Greece.