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2025年11月美国食品药品监督管理局（FDA）正式批准Kygevvi口服溶液用粉剂用于治疗发病起始年龄≤12岁的成人和儿童胸苷激酶2缺乏症（TK2d）患者。Kygevvi是首个也是唯一获批用于治疗TK2d的靶向疗法，由两种嘧啶核苷脱氧胞苷（doxecitine）和脱氧胸苷（doxribtimine）组成，其作用是将doxecitine和doxribtimine融入骨骼肌线粒体脱氧核糖核酸（DNA）中，从而绕过有缺陷的胸苷激酶2（TK2），帮助修复和增加线粒体DNA的数量，从根源上改善细胞的能量供应。现对其作用机制、药效学、药代动力学、临床研究及安全性等作一介绍。

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