Hereditary Rickets. How Genetic Alterations Explain the Biochemical and Clinical Phenotypes

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.

Cite this article as:

Papadopoulou Anna, Gole Evaggelia and Nicolaidou Polyxeni, Hereditary Rickets. How Genetic Alterations Explain the Biochemical and Clinical Phenotypes, Endocrine, Metabolic & Immune Disorders - Drug Targets 2013; 13 (4) . https://dx.doi.org/10.2174/1871530313666131224114530