Endocrine, Metabolic & Immune Disorders-Drug Targets

(Formerly Current Drug Targets - Immune, Endocrine & Metabolic Disorders)

Emilio Jirillo  
Universitá degli Studi di Bari
Dipartimento di Clinica Medica
Immunologia e Malattie Infettive
Sezione di Microbiologia e Immunologia
Piazza Giulio Cesare-Policlinico
Bari
Italy

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

Author(s): 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.

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.

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Article Details

VOLUME: 13
ISSUE: 4
Page: [324 - 334]
Pages: 11
DOI: 10.2174/1871530313666131224114530