Takeuchi Yasuhiro
Toranomon Hospital Endocrine Center.
Clin Calcium. 2007 Oct;17(10):1508-13.
Rickets/osteomalacia is a disorder causing mineralization defect and bone and skeletal fragility, although production of bone matrix proteins and their architecture is not impaired. The disease is called rickets and osteomalacia in children during skeletal development and in adults, respectively. Pathophysiology in rickets/osteomalacia is defect in vitamin D actions and/or hypophosphatemia. Vitamin D deficiency, inability of activation of vitamin D in vivo or functional derangement in vitamin D receptor is involved in impaired actions of vitamin D. Common causes of hypophosphatemia are excessive actions of fibroblast growth factor (FGF) 23 and renal tubular dysfunction. Among them FGF23 could be a principal regulator for phosphate metabolism, and many investigators are engaged in exploration of physiological and pathophysiological roles of FGF23 in human.
佝偻病/骨软化症是一种导致矿化缺陷以及骨骼脆弱的病症，尽管骨基质蛋白的产生及其结构并未受损。在骨骼发育阶段的儿童中，该疾病被称为佝偻病，在成年人中则被称为骨软化症。佝偻病/骨软化症的病理生理学特征是维生素D作用缺陷和/或低磷血症。维生素D缺乏、体内维生素D激活能力不足或维生素D受体功能紊乱均与维生素D作用受损有关。低磷血症的常见原因是成纤维细胞生长因子（FGF）23作用过度和肾小管功能障碍。其中，FGF23可能是磷酸盐代谢的主要调节因子，许多研究人员都在探索FGF23在人体中的生理和病理生理作用。
