[成年人群中维生素D缺乏:表现了模拟伪偏偏甲状腺症的2个家庭病例]
África Manero-Azua1, Arrate Pereda1, Natalia González Cabrera2
1Grupo de Investigación en Enfermedades Raras, Laboratorio de (epi) Genética Molecular, Instituto de Investigación Sanitaria Bioaraba, Hospital Universitario Araba-Txagorritxu, Vitoria-Gasteiz, Álava, España.
Medicina clinica
|July 27, 2023
概括
错误诊断的伪副甲状腺症病例被正确地确定为1A型维生素D依赖性狂犬病 (VDDR1A). 基因检测和维生素D代谢物水平对于准确的诊断和治疗至关重要,即使在成年人中也是如此.
科学领域:
- 内分泌学 在内分泌学.
- 遗传学 遗传学 是一个
- 代谢障碍 代谢障碍 代谢障碍
背景情况:
- 酸盐代谢障碍的临床和生化相似性可能导致误诊.
- 伪偏偏甲状腺症和维生素D依赖性狂犬病 (VDDR1) 共有重叠的症状,需要仔细的生化评估.
- 准确的诊断对于这些疾病的适当临床管理至关重要.
研究的目的:
- 为了调查那些实际上患有1A型维生素D依赖性狂犬病 (VDDR1A) 的患者的伪甲状腺症的错误诊断.
- 突出具体的生物化学测试在区分类似的代谢性骨疾病的重要性.
- 强调基因分析在确认诊断中的作用.
主要方法:
- 在两个家族中诊断出伪甲状腺症的临床诊断,呈现出低血症和甲状腺激素升高.
- 不包括GNAS基因变异.
- 大规模测序以识别与差异诊断相关的基因中的遗传变异.
- 生物化学再评估包括维生素D代谢物水平 (1,25(OH) 2D3和25(OH) D3).
主要成果:
- 在CYP27B1基因中发现了两种遗传变异,证实了VDDR1A的诊断.
- 已知CYP27B1中的致病变体会导致VDDR1A.
- 通过临床生物化学再评估,诊断得到证实,导致适应治疗.
结论:
- 维生素D依赖性风1A型 (VDDR1A) 可能被错误地诊断为伪偏偏甲状腺症.
- 测量1,25(OH) 2D3和25(OH) D3水平对于诊断VDDR1A在高PTH的低血症的情况下至关重要.
- 即使在出现这些生化发现的成年患者中,VDDR1A诊断也很重要.
关键词:
大人的成年人.大人的成年人.在CYP27B1中.疾病是由PTH/PTHrP信号通路的不激活引起的.不激活PTH/PTHrP信号传输障碍伪偏偏皮类甲状腺炎症症.在维生素D的依赖下,拉基蒂斯症很容易发生.这是一种腰椎间板膜炎症症症.维生素D 维生素D是一种维生素.维生素D依赖性恶心病维生素D是一种维生素.更多相关视频
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