Stocco Gabriele, Galletti Anna, Lucafò Marianna, Giurici Nagua, Curci Debora, Solidoro Sara, Kiren Valentina, Bianco Anna Monica, Barbi Egidio, D'Adamo Pio
Clinical Department of Medical, Surgical and Health Sciences, University of Trieste, Trieste, Italy.
Advanced Translational Diagnostic Laboratory, Institute for Maternal and Child Health-IRCCS Burlo Garofolo, Trieste, Italy.
Front Pharmacol. 2025 Apr 25;16:1549540. doi: 10.3389/fphar.2025.1549540. eCollection 2025.
We report a case of post-awakening recurrent episodes of spontaneous re-sedation and apnea with severe desaturation after procedural sedation with dexmedetomidine and propofol in a leukemic adolescent with an ionic channel variant. The mutation is located in the 3'-UTR regulatory region of SCN9A. We speculate that this variant may affect the stability of the mRNA, making the patient more susceptible to the combined effects of propofol and dexmedetomidine. This is the first pediatric report of late onset re-sedation with apnoea after combined sedation with propofol and dexmedetomidine highlighting the risk of adverse events in selected patients with a genetic increased susceptibility. If validated by further studies, pharmacogenetic testing may be implemented to provide personalized therapies in patients needing anesthesia.
我们报告了一例患有离子通道变异的白血病青少年，在使用右美托咪定和丙泊酚进行程序性镇静后，出现觉醒后反复自发再镇静和呼吸暂停，并伴有严重低氧血症的病例。该突变位于SCN9A的3'-UTR调控区域。我们推测这种变异可能会影响mRNA的稳定性，使患者更容易受到丙泊酚和右美托咪定联合作用的影响。这是首例关于丙泊酚和右美托咪定联合镇静后迟发性再镇静伴呼吸暂停的儿科报告，突出了特定遗传易感性增加患者发生不良事件的风险。如果进一步研究证实，药物遗传学检测可能会应用于为需要麻醉的患者提供个性化治疗。
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