title: [Rickets].
abstract: This review mainly describes on childhood vitamin D deficiency and x-linked hypophosphatemic rickets. Though nutritional state has improved dramatically, 25 (OH) D level, which is a good indicator of vitamin D status, is marginal especially in winter, and vitamin D deficiency is not rare in Japan. The PTH/Vitamin D axis does not account for the entire picture of x-linked hypophosphatemic rickets, and a new bone (osteocyte) -renal metabolic milieu has emerged and loss of PHEX, mostly expressed in osteocytes, is proposed to result in inappropriate processing of MEPE and consequent reduction in bone mineralization and an increase in circulating FGF23 to give rise to phosphaturia and hypophosphatemia.
authors.affiliation: National Hospital Organization Chiba Medical Center, Japan.
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Yasuda
mesh_terms: D000818:Animals; D002117:Calcitriol / Q000097:blood; D002648:Child; D002762:Cholecalciferol / Q000008:administration & dosage; D016326:Extracellular Matrix Proteins; D053098:Familial Hypophosphatemic Rickets / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology / Q000503:physiopathology; D000089703:Fibroblast Growth Factor-23; D005346:Fibroblast Growth Factors; D040181:Genetic Diseases, X-Linked; D006023:Glycoproteins; D006801:Humans; D010011:Osteocytes; D053402:PHEX Phosphate Regulating Neutral Endopeptidase; D010750:Phosphoproteins; D010758:Phosphorus / Q000008:administration & dosage / Q000172:deficiency; D014808:Vitamin D Deficiency / Q000150:complications
chemical_list: C513309:DMP1 protein, human; D016326:Extracellular Matrix Proteins; C000717427:FGF23 protein, human; D006023:Glycoproteins; C486579:MEPE protein, human; D010750:Phosphoproteins; D002762:Cholecalciferol; D010758:Phosphorus; D005346:Fibroblast Growth Factors; D000089703:Fibroblast Growth Factor-23; D053402:PHEX Phosphate Regulating Neutral Endopeptidase; C506231:PHEX protein, human; D002117:Calcitriol