维生素D缺乏或耐药性和低酸血症
Vijaya Sarathi1, Melkunte Shanthaiah Dhananjaya1, Manjiri Karlekar2
1Department of Endocrinology, Vydehi Institute of Medical Sciences and Research Center, Bengaluru 560066, India.
Best practice & research. Clinical endocrinology & metabolism
|February 16, 2024
概括
维生素D缺乏会导致恶心和骨质,通常可以通过补充治疗. 维生素D代谢的遗传性疾病也会导致这些疾病,如果补充剂失败,则需要进行特定的评估.
科学领域:
- 内分泌学 在内分泌学.
- 代谢性骨疾病 代谢性骨疾病
背景情况:
- 维生素D在皮肤或饮食中产生,经过肝脏和脏激活,形成其活性形式,.
- 酸通过无处不在的维生素D受体 (VDR) 起作用,调节和的平衡.
- 这条路径的缺陷会导致维生素D缺乏或耐药性,导致狂犬病和骨质疏松症.
研究的目的:
- 审查维生素D缺乏和遗传维生素D依赖性狂犬病 (VDDR) 的原因和机制.
- 突出临床特征,包括低血症,以及对这些疾病的诊断考虑.
主要方法:
- 对维生素D代谢途径和遗传缺陷的审查.
- 临床表现和与恶心病和骨质疏松症相关的生化标志物的分析.
- 讨论诊断方法,区分营养缺乏与遗传形式.
主要成果:
- 营养维生素D缺乏是导致风/骨质疏松症的主要原因,对补充剂有反应.
- 遗传性疾病 (VDDR1A,VDDR1B,VDDR2A,VDDR2B,VDDR3) 是由于维生素D氧化,VDR功能或新陈代谢的缺陷造成的.
- 低血是常见的特征,它对维生素D补充剂缺乏反应表明遗传原因.
结论:
- 早期识别低血症及其对治疗的反应对于诊断狂犬病和骨质疏松症至关重要.
- 如果用维生素D补充剂无法改善,就需要对遗传维生素D代谢障碍进行调查.
- 了解拉基茨和骨质疏松症的各种原因对于有效的患者管理至关重要.
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