Li Xiazhe,Wang Le,Zhong Zhiyong,et al.Pacak-Zhuang syndrome in children: one case report[J].Journal of Clinical Pediatric Surgery,2026,(05):490-492.[doi:10.3760/cma.j.cn101785-20251212-00114]
儿童Pacak-Zhuang综合征1例
- Title:
- Pacak-Zhuang syndrome in children: one case report
- 关键词:
- Pacak-Zhuang综合征; 儿童; 外科手术
- 摘要:
- Pacak-Zhuang综合征(Pacak-Zhuang syndrome,PZS)是由EPAS1基因(又称HIF-2α基因)突变引起的罕见疾病,目前临床报道较少。该疾病患者多表现为副神经节瘤、高血压及红细胞增多症等。本文报道河北省儿童医院收治的1例女性PZS患者,对其临床表现、诊断及治疗情况进行总结分析。
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备注/Memo
收稿日期:2026-12-12。
基金项目:河北省卫生健康委员会课题(20242273)
通讯作者:宫颖新,Email:gongyingxin2009@163.com