由复合异合性CYP17A1突变引起的罕见二次高血压:一个病例报告
Jianying Sun1, Tao Ma1, Tao Jiang1
1Department of Cardiology, The First People's Hospital of Yunnan Province, The Affiliated Hospital of Kunming University of Science and Technology, 157 Jinbi Road, Kunming 650032, Yunnan, China.
17α-氧酶缺乏,是一种罕见的先天性上腺增生症,可以导致青少年的严重高血压. 早期诊断和德克萨治疗有效控制了十几岁女孩的症状,该女孩患有复合异性CYP17A1突变.
科学领域:
- 内分泌学 在内分泌学.
- 遗传学 遗传学 是一个
背景情况:
- 17α-氧酶缺乏是一种罕见的遗传疾病,导致先天性上腺增生.
- 由于发病率较低,它带来了诊断和治疗方面的挑战.
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Mutations
