[维生素D依赖性及其治疗]。

Clinical calcium Pub Date : 2016-02-01

Sachiko Kitanaka

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引用次数: 0

摘要

维生素D依赖性分为维生素D依赖性佝偻病1型，表现为1,25(OH)(2)D产生缺陷，维生素D依赖性佝偻病2型，表现为终末器官对1,25(OH)(2)D无反应。近年来对这些疾病分子分析的进展揭示了其表现形式和遗传模式的多样性。分子诊断对于充分的治疗是可取的，特别是2型。

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[Vitamin D dependency and its treatment].

Vitamin D dependency is classified to vitamin D-dependent rickets type 1 which shows defective 1,25(OH)(2)D production, and vitamin D-dependent rickets type 2 which shows end-organ unresponsiveness to 1,25(OH)(2)D. 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 adequate therapy especially in type 2.

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Clinical calcium

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