| 李绮梦,郑佳,刘美芹,等.以周期性瘫痪发病的安德森综合征 1例并文献复习[J].安徽医药,2025,29(11):2221-2224. |
| 以周期性瘫痪发病的安德森综合征 1例并文献复习 |
| A case report and literature review of Andersen-Tawil syndrome presenting with periodic paralysis |
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| DOI：10.3969/j.issn.1009-6469.2025.11.021 |
| 中文关键词: 安德森综合征 周期性瘫痪 骨骼畸形 KCNJ2基因 遗传性疾病 |
| 英文关键词: Andersen-Tawil syndrome Periodic paralysis Skeletal deformities KCNJ2 gene Genetic disease |
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| 中文摘要: |
| 目的报告安德森综合征( Andersen-Tawil综合征， ATS)1例并文献复习，探讨 ATS的临床诊治要点，以提高 ATS的诊治水平。方法收集 2023年 9月潍坊市人民医院收治的 1例病人及其家人外周血，进行医学全外显子组基因检测。结果基因检测结果提示病人存在 KCNJ2基因 c.200G>A(p.Arg67Gln)突变，该突变来自其父亲，结合病人临床表现及体格检查符合 ATS。结论 ATS是罕见显性遗传病，临床特异性较高，极易被误诊、漏诊，基因检测有助于诊断。 |
| 英文摘要: |
| Objective To report a case of Andersen-Tawil syndrome (ATS) and review the literature, exploring the key points of clini-cal diagnosis and treatment of ATS to improve its diagnosis and treatment level.Methods Peripheral blood samples were collectedfrom a patient admitted to Weifang People's Hospital in September 2023 and his family members for medical whole-exome gene se.quencing.Results Genetic testing revealed a KCNJ2 gene c.200G>A (p.Arg67Gln) mutation in the patient, which was inherited fromhis father. Combined with the patient's clinical manifestations and physical examination findings, the diagnosis was consistent withATS. Conclusions ATS is a rare autosomal dominant genetic disease with high clinical specificity and is easily misdiagnosed ormissed. Genetic testing is helpful for diagnosis. |
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