Franco Emily, Nimura Clare, McGann Patrick T
Alpert Medical School of Brown University, Providence, RI, USA.
Brown University Health Sickle Cell Center, Providence, RI, USA.
Pediatr Res. 2024 Sep 13. doi: 10.1038/s41390-024-03566-w.
Sickle cell disease (SCD) is an inherited disorder of hemoglobin that affects tens of millions of individuals worldwide. Without preventive and disease-modifying therapy, SCD results in many acute and chronic complications impacting both quality and length of life. We are currently in a new generation of SCD care in high resource settings due to recent advancements in care. Universal newborn screening (NBS) for SCD with associated parental education and preventive care significantly improved mortality rates. Beginning in the 1990s, hydroxyurea emerged as a promising pharmacologic treatment for SCD due to its ability to increase the amount of fetal hemoglobin. It is now the mainstay of treatment, with strong recommendations to begin as early as the first year of life with the goal of reducing most short- and long-term complications and allowing for a normalized quality of life. More recently, gene therapy has come to the forefront in SCD and brings the hope of a cure for many patients. In 2023, the FDA approved two cell-based gene therapies for patients with SCD. The future is bright for patients with SCD, and the current generation of affected children will expectantly be able to grow up free of suffering and severe, frequent pain.
镰状细胞病(SCD)是一种遗传性血红蛋白疾病,全球数千万人受其影响。若不进行预防性和疾病改善性治疗,SCD会导致许多急慢性并发症,影响生活质量和寿命。由于近期护理方面的进展,我们目前处于高资源环境下的新一代SCD护理阶段。对SCD进行普遍新生儿筛查(NBS)并开展相关家长教育和预防护理,显著提高了死亡率。从20世纪90年代开始,羟基脲因其能够增加胎儿血红蛋白量,成为一种有前景的SCD药物治疗方法。它现在是治疗的主要手段,强烈建议在生命的第一年尽早开始使用,目标是减少大多数短期和长期并发症,并实现正常的生活质量。最近,基因治疗在SCD领域崭露头角,为许多患者带来了治愈的希望。2023年,美国食品药品监督管理局(FDA)批准了两种基于细胞的基因疗法用于SCD患者。SCD患者的未来一片光明,目前受影响的儿童有望能够健康成长,免受痛苦以及严重、频繁的疼痛折磨。