Minisola Salvatore, Colangelo Luciano, Pepe Jessica, Diacinti Daniele, Cipriani Cristiana, Rao Sudhaker D
Department of Clinical Internal, Anesthesiological and Cardiovascular Sciences, Sapienza University of Rome Rome Italy.
Bone and Mineral Research Laboratory, Division of Endocrinology Diabetes & Bore and Mineral Disorders, Henry Ford Hospital Detroit MI USA.
JBMR Plus. 2020 Dec 21;5(1):e10447. doi: 10.1002/jbm4.10447. eCollection 2021 Jan.
Historically, rickets and osteomalacia have been synonymous with vitamin D deficiency dating back to the 17th century. The term osteomalacia, which literally means soft bone, was traditionally applied to characteristic radiologically or histologically documented skeletal disease and not just to clinical or biochemical abnormalities. Osteomalacia results from impaired mineralization of bone that can manifest in several types, which differ from one another by the relationships of osteoid (ie, unmineralized bone matrix) thickness both with osteoid surface and mineral apposition rate. Osteomalacia related to vitamin D deficiency evolves in three stages. The initial stage is characterized by normal serum levels of calcium and phosphate and elevated alkaline phosphatase, PTH, and 1,25-dihydroxyvitamin D [1,25(OH)D]-the latter a consequence of increased PTH. In the second stage, serum calcium and often phosphate levels usually decline, and both serum PTH and alkaline phosphatase values increase further. However, serum 1,25(OH)D returns to normal or low values depending on the concentration of its substrate, 25-hydroxyvitamin D (25OHD; the best available index of vitamin D nutrition) and the degree of PTH elevation. In the final stage, hypocalcemia and hypophosphatemia are invariably low with further exacerbation of secondary hyperparathyroidism. The exact,or even an approximate, prevalence of osteomalacia caused by vitamin D deficiency is difficult to estimate, most likely it is underrecognized or misdiagnosed as osteoporosis. Signs and symptoms include diffuse bone, muscle weakness, and characteristic fracture pattern, often referred to as pseudofractures, involving ribs, scapulae, pubic rami, proximal femurs, and codfish-type vertebrae. The goal of therapy of vitamin D-deficiency osteomalacia is to alleviate symptoms, promote fracture healing, restore bone strength, and improve quality of life while correcting biochemical abnormalities. There is a need for better understanding of the epidemiology of osteomalacia. Simplified tools validated by concurrent bone histology should be developed to help clinicians promptly diagnose osteomalacia. © 2020 The Authors. published by Wiley Periodicals LLC. on behalf of American Society for Bone and Mineral Research.
从历史上看,佝偻病和骨软化症一直是维生素D缺乏的同义词,可追溯到17世纪。骨软化症这个术语,字面意思是软骨头,传统上用于放射学或组织学记录的特征性骨骼疾病,而不仅仅是临床或生化异常。骨软化症是由于骨矿化受损所致,可表现为几种类型,它们因类骨质(即未矿化的骨基质)厚度与类骨质表面和矿物质沉积率的关系而彼此不同。与维生素D缺乏相关的骨软化症发展分为三个阶段。初始阶段的特征是血清钙和磷水平正常,碱性磷酸酶、甲状旁腺激素(PTH)和1,25-二羟基维生素D[1,25(OH)D]升高——后者是PTH升高的结果。在第二阶段,血清钙水平通常下降,血清磷水平也常常下降,血清PTH和碱性磷酸酶值进一步升高。然而,血清1,25(OH)D会恢复到正常或低值,这取决于其底物25-羟基维生素D(25OHD;维生素D营养状况的最佳可用指标)的浓度以及PTH升高的程度。在最后阶段,低钙血症和低磷血症总是很低,继发性甲状旁腺功能亢进会进一步加重。由维生素D缺乏引起的骨软化症的确切患病率,甚至是大致患病率都很难估计,很可能它未得到充分认识或被误诊为骨质疏松症。体征和症状包括弥漫性骨痛、肌肉无力以及特征性骨折模式,常被称为假性骨折,累及肋骨、肩胛骨、耻骨支、股骨近端和鳕鱼椎。维生素D缺乏性骨软化症的治疗目标是缓解症状、促进骨折愈合、恢复骨强度并改善生活质量,同时纠正生化异常。需要更好地了解骨软化症的流行病学。应开发经同步骨组织学验证的简化工具,以帮助临床医生及时诊断骨软化症。© 2020作者。由Wiley Periodicals LLC代表美国骨与矿物质研究学会出版。