维生素D 缺乏氧化酶的风病1A型错误诊断为常态血性原发性副甲状腺功能障碍
Pamela Rivero-García1, Juan José Aguilar-Lugo-Gerez2, Tamara N Kimball1
1Department of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán. Vasco de Quiroga 15, Belisario Domínguez, Sección XVI, Delegación Tlalpan, 14080 Mexico City, Mexico.
JCEM case reports
|November 1, 2023
概括
一个罕见的遗传性疾病 - - 维生素D氧化缺乏的1A型,在一个年轻的患者身上被误诊为原发性副甲状腺功能障碍. 基因测试揭示了CYP27B1基因的突变,证实了潜在的维生素D代谢缺陷.
科学领域:
- 内分泌学 在内分泌学.
- 遗传学 遗传学 是一个
- 儿科 儿科 儿科
背景情况:
- 1A型维生素D氧化缺陷狂犬病是一种由CYP27B1基因变异引起的遗传性疾病,影响维生素D的激活.
- 早期症状可能包括生长迟缓和骨变形,可能模仿其他内分泌条件.
研究的目的:
- 报告一种独特的维生素D氧化缺陷狂犬病1A型病例,最初被误诊并为原发性副甲状腺功能障碍进行手术治疗.
- 突出诊断挑战和遗传代谢障碍中基因检测的重要性.
主要方法:
- 一个3岁的女性患者的病例报告,患有生长迟缓和骨变形.
- 实验室研究包括血清,25-OH维生素D和副甲状腺激素水平.
- 图像检测 (99mTc sestamibi gammagram),骨组织形态测量,以及对CYP27B1变体进行分子检测.
主要成果:
- 最初的呈现表明原发性副甲状腺功能障碍,导致亚总副甲状腺切除术.
- 手术后,患者患上了副副甲状腺功能障碍症,并在18岁时出现了低血症和二次性副甲状腺功能障碍症.
- 基因分析证实了CYP27B1基因中的复合异性变异,表明1α-氧化缺陷.
结论:
- 这一案例是首次报告遗传维生素D代谢障碍的病例,该病例被误诊并以手术治疗为原发性甲状腺功能障碍.
- 强调需要对复杂的内分泌表现进行全面的诊断评估,包括基因检测.
- 突出了错误诊断的可能性,当不同的代谢和内分泌条件之间的经典症状重叠时.
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