title: [Vitamin D dependency and its treatment].
abstract: Vitamin D dependency is classified to vitamin D-dependent rickets type 1 which shows defective 1,25(OH)(2)D production, and vitamin D-dependent rickets type 2 which shows end-organ unresponsiveness to 1,25(OH)(2)D. Recent advance in the molecular analysis of these diseases revealed variety in the presentation and in the inheritance patterns. Molecular diagnosis would be preferable for adequate therapy especially in type 2.
authors.affiliation: Dept. of Pediatrics, Graduate School of Medicine, The University of Tokyo, Japan.
authors.forename: Sachiko
authors.initials: S
authors.lastname: Kitanaka
mesh_terms: D015090:25-Hydroxyvitamin D3 1-alpha-Hydroxylase / Q000235:genetics; D002117:Calcitriol; D002118:Calcium / Q000008:administration & dosage; D053098:Familial Hypophosphatemic Rickets / Q000175:diagnosis / Q000209:etiology / Q000235:genetics / Q000628:therapy; D006801:Humans; D009154:Mutation; D057089:Pathology, Molecular; D018167:Receptors, Calcitriol / Q000235:genetics; D014807:Vitamin D / Q000008:administration & dosage
chemical_list: D018167:Receptors, Calcitriol; D014807:Vitamin D; D015090:25-Hydroxyvitamin D3 1-alpha-Hydroxylase; C000600378:CYP27B1 protein, human; D002117:Calcitriol; D002118:Calcium