Loser Valentin, Baumgartner Thomas, Legardeur Hélène, Panchaud Alice, Théaudin Marie
Service of Neurology, Department of Clinical Neurosciences, Lausanne University Hospital, University of Lausanne, Rue du Bugnon 44, Lausanne 1011, Switzerland.
Service of Neurology, Department of Clinical Neurosciences, Lausanne University Hospital, University of Lausanne, Lausanne, Switzerland.
Ther Adv Neurol Disord. 2024 Mar 26;17:17562864241239755. doi: 10.1177/17562864241239755. eCollection 2024.
We describe here the first case of exposure to patisiran treatment, a small interfering RNA molecule, during early pregnancy of a 36-year-old woman with symptomatic hereditary transthyretin-related amyloidosis. There were no major complications during pregnancy and delivery, except for a postpartum hemorrhage due to uterine atony. Vitamin A levels had to be closely monitored during pregnancy, and vitamin A substitution adapted accordingly. There was no sign of minor or major congenital abnormalities of the baby. One month after delivery, the patient showed slight clinical and electrophysiological signs of neuropathy progression due to patisiran treatment withdrawal. Patisiran infusions were resumed 3 months after delivery. Due to the unknown teratogenic potential of patisiran, the risk of neuropathy worsening associated with withholding treatment must of course be weighed against a potential teratogenic risk of treatment during pregnancy. Vitamin A levels need to be closely assessed, and substitution must be adapted accordingly, to avoid embryofetal adverse outcome due to vitamin A deficiency or toxicity.
我们在此描述了首例在一名36岁有症状的遗传性转甲状腺素蛋白相关淀粉样变性病女性的孕早期接触帕替西兰治疗（一种小干扰RNA分子）的病例。孕期和分娩期间未出现重大并发症，仅因子宫收缩乏力导致产后出血。孕期必须密切监测维生素A水平，并相应调整维生素A替代治疗。婴儿未出现轻微或重大先天性异常的迹象。分娩后一个月，由于停用帕替西兰治疗，患者出现了轻微的临床和电生理神经病变进展迹象。分娩后3个月恢复了帕替西兰输注。由于帕替西兰的致畸潜力未知，当然必须权衡停止治疗相关的神经病变恶化风险与孕期治疗潜在的致畸风险。需要密切评估维生素A水平，并相应调整替代治疗，以避免因维生素A缺乏或毒性导致胚胎胎儿不良结局。
