Passia Evangelia, Rock Nathalie, Pfister Riccardo E, Ing Lorenzini Kuntheavy R, Desmeules Jules, Samer Caroline F
Department of General Internal Medicine, Geneva University HospitalsGeneva, Switzerland.
Department of Pediatrics, Geneva University HospitalsGeneva, Switzerland.
Front Pharmacol. 2017 Apr 21;8:217. doi: 10.3389/fphar.2017.00217. eCollection 2017.
We report a case of carbamazepine withdrawal syndrome following exposure to carbamazepine related to a pharmacogenetic predisposition factor. The infant was born at 37 1/7 weeks' gestation by cesarean section to a mother treated for epilepsy with carbamazepine. One hour and thirty minutes after birth, the infant presented a respiratory distress with severe oxygen desaturation requiring intubation 5 h after birth. On the third day of life the infant developed clinical signs of a withdrawal syndrome which resolved progressively after 16 days and symptomatic treatment. The infant genotype analysis showed two low activity CYP2C9 allelic variants (2/3 heterozygote) predicting a CYP2C9 slow metabolizer phenotype which could explain reduced carbamazepine elimination and a late and long-lasting withdrawal symptoms observed 3 days after birth. The association of a withdrawal syndrome with carbamazepine exposure has not been previously reported and pharmacogenetic tests might therefore be useful in identifying patients at risk.
我们报告了一例与药物遗传学易感性因素相关的卡马西平暴露后出现的卡马西平戒断综合征病例。该婴儿通过剖宫产在妊娠37又1/7周时出生，其母亲因癫痫接受卡马西平治疗。出生后1小时30分钟，婴儿出现呼吸窘迫，伴有严重的氧饱和度下降，出生后5小时需要插管。在出生第三天，婴儿出现了戒断综合征的临床症状，经16天的对症治疗后逐渐缓解。婴儿的基因型分析显示有两个低活性的CYP2C9等位基因变体（2/3杂合子），预测为CYP2C9慢代谢者表型，这可以解释卡马西平清除率降低以及出生后3天观察到的迟发性和持续性戒断症状。此前尚未报道过戒断综合征与卡马西平暴露之间的关联，因此药物遗传学检测可能有助于识别有风险的患者。
