Kitanaka Sachiko
Dept. of Pediatrics, Graduate School of Medicine, The University of Tokyo, Japan.
Clin Calcium. 2013 Oct;23(10):1437-43.
Vitamin D dependency was first termed for patients resembling vitamin D-deficiency but require high doses of vitamin D administration. Now this disease is known to be caused by defective conversion of 25OHD to 1,25 (OH) 2D, which is termed vitamin D-dependent rickets type 1 or 1α-hydroxylase deficiency, or by end-organ unresponsiveness to 1,25 (OH) 2D, which is called vitamin D-dependent rickets type 2 or hereditary vitamin D-resistant rickets. Recent advance in the molecular analysis of these diseases revealed variety in the presentation and in the inheritance patterns. Molecular diagnosis would be preferable for some atypical cases for adequate therapy.
维生素D依赖性最初是针对那些看似维生素D缺乏但需要大剂量补充维生素D的患者而言的。现在已知这种疾病是由25OHD向1,25(OH)₂D转化缺陷所致，这被称为维生素D依赖性佝偻病1型或1α-羟化酶缺乏症，或者是由终末器官对1,25(OH)₂D无反应引起的，这被称为维生素D依赖性佝偻病2型或遗传性维生素D抵抗性佝偻病。这些疾病分子分析的最新进展揭示了其临床表现和遗传模式的多样性。对于一些非典型病例，为了进行充分治疗，分子诊断可能更可取。
