Department of Microscopy, Laboratory of Cell Biology, Institute of Biomedical Sciences Abel Salazar (ICBAS), University of Porto (UP), Multidisciplinary Unit for Biomedical Research (UMIB), ICBAS-UP, Porto, Portugal; Hospital Centre of Porto (CHP), Porto, Portugal.
Department of Microscopy, Laboratory of Cell Biology, Institute of Biomedical Sciences Abel Salazar (ICBAS), University of Porto (UP), Multidisciplinary Unit for Biomedical Research (UMIB), ICBAS-UP, Porto, Portugal.
Reprod Biomed Online. 2018 Jan;36(1):39-46. doi: 10.1016/j.rbmo.2017.09.010. Epub 2017 Oct 12.
The aim of this study was to determine whether patients with transthyretin-related hereditary amyloidosis (V30M), after transplantation or under tafamidis treatment, have normal gamete reproductive capacity. A retrospective analysis was carried out of all preimplantation genetic diagnosis (PGD) cycles performed in patients with the V30M mutation. The groups analysed were: total cases with V30M, female cases with V30M and male cases with V30M. Detailed demographic, stimulation, embryological, clinical and newborn outcomes were evaluated. Comparisons revealed that patients have a high likelihood of achieving a live birth per PGD treatment cycle (48%). This is the first large report on patients with the V30M mutation treated with PGD. The high rate of live birth obtained should represent a strong stimulus for patients to use PGD as it proved to be effective and safe. As a neurodegenerative disease that leads to death, it is of maximum importance that it could be eradicated using PGD in order to definitively avoid the transmission of the disease.
本研究旨在确定转甲状腺素相关遗传性淀粉样变性（V30M）患者在接受移植或塔法米迪治疗后是否具有正常的配子生殖能力。对携带 V30M 突变的所有患者进行了前瞻性基因诊断（PGD）周期的回顾性分析。分析的组为：携带 V30M 的总病例、携带 V30M 的女性病例和携带 V30M 的男性病例。评估了详细的人口统计学、刺激、胚胎学、临床和新生儿结局。比较显示，患者每进行一次 PGD 治疗周期就有很大可能获得活产（48%）。这是第一个关于接受 PGD 治疗的 V30M 突变患者的大型报告。获得的高活产率应该代表对患者使用 PGD 的强烈刺激，因为它被证明是有效和安全的。由于这种疾病是一种导致死亡的神经退行性疾病，因此使用 PGD 彻底消除疾病以避免疾病传播至关重要。
