title: Hereditary rickets. How genetic alterations explain the biochemical and clinical phenotypes.
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.
authors.forename: Anna
authors.initials: A
authors.lastname: Papadopoulou
authors.forename: Evaggelia
authors.initials: E
authors.lastname: Gole
authors.affiliation: 3rd Department of Pediatrics, Medical School, University of Athens, University General Hospital Attikon, 1, Rimini Str, 12462 Athens, Greece. a_papado@yahoo.com.
authors.forename: Polyxeni
authors.initials: P
authors.lastname: Nicolaidou
mesh_terms: D000818:Animals; D006801:Humans; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D012279:Rickets / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism*; D014807:Vitamin D / Q000235:genetics* / Q000378:metabolism
chemical_list: D014807:Vitamin D