▌药物治疗1.洛那法尼：2020年，美国食品药品监督管理局（FDA）批准洛那法尼上市，用于治疗早衰症及相关综合征。洛那法尼是具有口服活性的法尼基转移酶抑制剂，通过阻止部分早老蛋白的产生，从而降低这些蛋白在患病儿童细胞中的蓄积量，延长患儿寿命。一项接受药物治疗的62名儿童的临床试验表明，与另一项未服用药物的81名儿童的数据相比，洛那法尼在治疗的前3年使患病儿童的平均寿命延长了约3个月，而接受治疗长达11年的患病儿童，平均寿命延长了约2.5年。2.依维莫司：一种mTOR抑制剂，也可以帮助激活自噬信号通路降解细胞内的早衰蛋白。3.其他药物：外生的端粒酶反转录酶/人端粒酶催化亚单位；奥替普拉（NRF2激动剂）；小剂量阿司匹林有助于延缓心脏病发作和中风。▌干细胞与基因治疗目前的基因治疗主要有2种研究方向，即通过提取并诱导出HGPS患者的iPSCs，采用同源重组手段纠正其LMNA突变；通过基因治疗抑制或去除突变位点。小结：HGPS是一种非常罕见且致命的染色体遗传疾病，目前的治疗手段多数不能完全阻止疾病的进展且安全性不高。但随着越来越多科研人员对此病的关注，新的研究也在如火如荼地开展。莱斯利和山姆的故事令人动容，我们也希望每一个患儿都能在阳光下快乐成长，每一个HGPS患儿的母亲都不再难过。参考文献：[1]余佳，杨文利，闫洁,等.儿童Hutchinson-Gilford早老症六例分析.中华内分泌代谢杂志，2020，36(01):25-30.DOI:10.3760/cma.j.issn.1000-6699.2020.01.003[2]赵晓妮,杨帆,马慧,等.三维超声心动图评价儿童早老症儿童左心室收缩功能[J].中华超声影像学杂志,2016,25(11):921-925.[3]余琴梅,王晶晶,马晓晖,等.儿童早老症儿童并发脑卒中的报道并文献复习[J].中国临床案例成果数据库,2022,04(01):E01382-E01382.[4]Eriksson M, Brown WT, Gordon LB, et al. Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature. 2003 May 15;423(6937):293-8.[5]夏天卫，王芳，周国威,等.核纤层蛋白与Hutchinson-Gilford早老症的研究进展.中华老年医学杂志，2019，38(3):336-340.DOI:10.3760/cma.j.issn.0254-9026.2019.03.027本文首发：医学界罕见病频道本文作者：暗生崎乐责任编辑：CiCi医学界力求其发表内容在审核通过时的准确可靠，但并不对已发表内容的适时性，以及所引用资料（如有）的准确性和完整性等作出任何承诺和保证，亦不承担因该些内容已过时、所引用资料可能的不准确或不完整等情况引起的任何责任。请相关各方在采用或者以此作为决策依据时另行核查。仅供医学专业人士阅读参考声明：转载此文是出于传递更多信息之目的。若有来源标注错误或侵犯了您的合法权益，请作者持权属证明与本网联系（扫码关注微信公众号留言），我们将及时更正或删除，感谢。
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