title: [1,25-Dihydroxyvitamin D receptor and vitamin-resistant rickets].
abstract: Numerous research works have been performed following the identification of 1,25-dihydroxyvitamin D in the early 1970s which concern the synthesis and role of this hormonal form of vitamin D, as well as the structure and function of its receptor. At the same time, a peculiar type of rickets resulting from a resistance to this hormone, has been described the so-called "pseudo-deficiency rickets type II". Although exceptional, pseudo-deficiency rickets type II has enabled studies which led to the description of several alterations in the vitamin D receptor chromosomal gene responsible for tissue resistance to 1,25-dihydroxyvitamin D. This article reviews present knowledge on the physiological role of 1,25-dihydroxyvitamin D, the structure and function of is receptor, the pathological consequences of its alteration leading to pseudo-deficiency rickets type II, and the reported therapeutic attempts to cure this form of rickets.
authors.affiliation: CNRS URA 583, hôpital Saint-Vincent-de-Paul, Paris.
authors.forename: M
authors.initials: M
authors.lastname: Garabédian
mesh_terms: D002117:Calcitriol / Q000502:physiology; D006801:Humans; D007015:Hypophosphatemia, Familial / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D018167:Receptors, Calcitriol / Q000737:chemistry / Q000502:physiology*
chemical_list: D018167:Receptors, Calcitriol; D002117:Calcitriol
vernacular_title: Récepteur de la 1,25-dihydroxyvitamine D et rachitisme vitamino-résistant.