[Updates on rickets and osteomalacia: pathogenesis and pathophysiology of rickets].
Rickets is a condition of inadequate mineralization of osteoid and cartilage at the growing ends of bones in children. In this brief review, we first explained the regulation of serum Ca and P concentrations to understand Rickets. Second, four types of sub-division of Rickets are presented ; 1) Vitamin D dysfunction-related, 2) Phosphate deficiency-related, 3) both 1) and 2) -related, 4) others. Finally, as most common entities, diagnosis and treatment in vitamin D deficiency and inherited hypophosphatemic Rickets/Osteomalacia are described. Over production of Klotho and inactivating mutations of FAM20c are explained as recent etiologies of non-hypercaluciuric inherited hypophosphatemic Rickets/Osteomalacia.
Division of Endocrinology and Metabolism, Tokyo Metropolitan Children's Hospital, Japan.
Yukihiro
Y
Hasegawa
Kentaro
K
Miyai
Ryojun
R
Takeda
D000367:Age Factors; D001842:Bone and Bones / Q000378:metabolism; D002118:Calcium / Q000097:blood; D006801:Humans; D010710:Phosphates / Q000097:blood; D012279:Rickets / Q000175:diagnosis / Q000209:etiology* / Q000378:metabolism / Q000503:physiopathology*; D014808:Vitamin D Deficiency / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology
D010710:Phosphates; D002118:Calcium