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