Novel insights in the management of sickle cell disease in childhood.
Novel insights in the management of sickle cell disease in childhood.
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DOI：
10.5409/wjcp.v5.i1.25
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发表时间：
2016-02-08
期刊：
影响因子：
--
通讯作者：
Venturelli, Donatella
中科院分区：
文献类型：
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作者：
Iughetti, Lorenzo;Bigi, Elena;Venturelli, Donatella
镰状细胞病（SCD）是一种以慢性溶血性贫血、血管损伤和多器官功能障碍为特征的危及生命的遗传性疾病。在过去的几十年里，西方国家的SCD管理有了显著的改善，特别是在儿科人群中。早期使用青霉素进行预防并对感染进行适当治疗可提高儿童时期的总体生存率。然而，疼痛发作的管理和器官损伤的预防仍然具有挑战性，需要更多的努力来更好地了解慢性器官损伤发展背后的机制。羟基脲（羟基脲，HU）是美国食品和药物管理局和欧洲药品管理局批准作为疾病调节剂的唯一药物，但通常使用不足，特别是在发展中国家。目前，造血干细胞移植被认为是唯一的治疗选择，尽管其使用受到供体缺乏和移植相关毒性的限制。SCD在儿童和成人中的症状相似，但并发症和全身器官损害随着年龄的增长而增加，导致世界范围内的早期死亡。缺乏对年轻SCD患者，特别是接近成年过渡年龄的患者进行综合护理的专家，导致人们依赖紧急护理，增加了医疗保健利用成本和不适当的治疗。建立SCD患者从出生到成年的综合医疗保健方案，以提高他们的生活质量和预期寿命是很重要的。
Sickle cell disease (SCD) is a life-threatening genetic disorder characterized by chronic hemolytic anemia, vascular injury and multiorgan dysfunctions. Over the last few decades, there have been significant improvements in SCD management in Western countries, especially in pediatric population. An early onset of prophylaxis with Penicillin and a proper treatment of the infections have increased the overall survival in childhood. Nevertheless, management of painful episodes and prevention of organ damage are still challenging and more efforts are needed to better understand the mechanisms behind the development of chronic organ damages. Hydroxyurea (Hydroxycarbamide, HU), the only medication approved as a disease-modifying agent by the United States Food and Drug Administration and the European Medicines Agency, is usually under-used, especially in developing countries. Currently, hematopoietic stem-cell transplantation is considered the only curative option, although its use is limited by lack of donors and transplant-related toxicity. SCD symptoms are similar in children and adults, but complications and systemic organ damages increase with age, leading to early mortality worldwide. Experts in comprehensive care of young patients with SCD, especially those approaching the transition age to adulthood, are missing, leading people to rely on urgent care, increasing health care utilization costs and inappropriate treatments. It would be important to establish programs of comprehensive healthcare for patients with SCD from birth to adulthood, to improve their quality and expectancy of life.