在CYP2R1中发生的新突变会导致维生素D依赖性风1b型
Jayakrishnan C Menon1, Archana Kumari1, Shruti M Sajjan1
1Department of Endocrinology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh 226014, India.
JCEM case reports
|March 5, 2024
概括
维生素D依赖性病1b (VDDR1b) 是罕见的. 这项研究在患有VDDR1b的兄弟姐妹中发现了一种新的CYP2R1基因突变,突出了对抗性狂犬病病例的基因测试的需要.
科学领域:
- 遗传学 遗传学 是一个
- 内分泌学 在内分泌学.
- 儿科 儿科 儿科
背景情况:
- 人们越来越多地认识到单基性拉希特病的形式.
- 维生素D依赖性病1b (VDDR1b) 是一种罕见的疾病,由CYP2R1基因突变引起.
- 营养性狂犬病很常见,但对治疗的耐药性表明潜在的遗传原因.
研究的目的:
- 报告一种新的同卵性CYP2R1变异,导致兄弟姐妹的VDDR1b.
- 强调基因评估在怀疑有治疗耐药性的营养性狂犬病病例中的重要性.
- 为了记录亚洲第一例报告的VDDR1b病例.
主要方法:
- 对怀疑患有病的两个兄弟姐妹进行临床,放射和生物化学评估.
- 基因分析以确定CYP2R1基因中的突变.
- 用口服和胆醇治疗,根据生化标志物进行剂量定位.
主要成果:
- 在受影响的兄弟姐妹中发现了一种新型同卵性CYP2R1c.50_51insTCGGCGGCGC; p.Leu18ArgfsTer79变异.
- 兄弟姐妹呈现了营养狂犬病的特征,对标准的维生素D3疗法没有反应.
- 用和胆醇治疗导致了良好的临床和放射性改善.
结论:
- 基因评估对于怀疑患有营养狂犬病,表现出治疗耐药性或复发的患者至关重要.
- 这项研究报告了亚洲人群中第一个由CYP2R1突变引起的VDDR1b病例.
- 早期诊断和适当的VDDR1b管理对于有利的结果至关重要.
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