Fukumoto Seiji, Ozono Keiichi, Michigami Toshimi, Minagawa Masanori, Okazaki Ryo, Sugimoto Toshitsugu, Takeuchi Yasuhiro, Matsumoto Toshio
Fujii Memorial Institute of Medical Sciences, Tokushima University, 3-18-15 Kuramoto-cho, Tokushima, 770-8503, Japan,
J Bone Miner Metab. 2015 Sep;33(5):467-73. doi: 10.1007/s00774-015-0698-7. Epub 2015 Jul 22.
Rickets and osteomalacia are diseases characterized by impaired mineralization of bone matrix. Recent investigations have revealed that the causes of rickets and osteomalacia are quite variable. Although these diseases can severely impair the quality of life of affected patients, rickets and osteomalacia can be completely cured or at least respond to treatment when properly diagnosed and treated according to the specific causes. On the other hand, there are no standard criteria to diagnose rickets or osteomalacia nationally and internationally. Therefore, we summarize the definition and pathogenesis of rickets and osteomalacia, and propose diagnostic criteria and a flowchart for the differential diagnosis of various causes of these diseases. We hope that these criteria and the flowchart are clinically useful for the proper diagnosis and management of these diseases.
佝偻病和骨软化症是以骨基质矿化受损为特征的疾病。最近的研究表明，佝偻病和骨软化症的病因差异很大。尽管这些疾病会严重损害患者的生活质量，但如果根据具体病因进行正确诊断和治疗，佝偻病和骨软化症可以完全治愈或至少对治疗有反应。另一方面，国内外尚无诊断佝偻病或骨软化症的标准。因此，我们总结了佝偻病和骨软化症的定义和发病机制，并提出了诊断标准以及针对这些疾病各种病因的鉴别诊断流程图。我们希望这些标准和流程图对这些疾病的正确诊断和管理具有临床实用性。
