镰状细胞病的治疗方法。

IF 1.1 4区 医学 Q3 PEDIATRICS Pediatric Annals Pub Date : 2024-02-01 DOI:10.3928/19382359-20231205-06
Saara Kaviany, Zhour Barnawi, James LaBelle
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引用次数: 0

摘要

镰状细胞病(SCD)是一种常染色体隐性血红蛋白病,全世界都有患者。β-球蛋白基因突变会导致血红蛋白生成异常,即镰状血红蛋白,这种血红蛋白会在压力下聚合,从而导致慢性溶血性贫血、使人衰弱的血管闭塞性危象和中风等终末器官表现。在美国,SCD 患者的平均寿命为 43 岁,比非 SCD 患者少活约 36 年。在此,我们回顾了针对 SCD 患者的治疗干预措施所取得的进展,即异体造血细胞移植和基因治疗。随着我们更好地了解SCD病理生理学、使用新的移植物抗宿主疾病预防方案、扩大干细胞供体选择范围以及了解血红蛋白生成的基因控制,这些干预措施仍在不断发展。虽然已经取得了重大进展,但要在全球范围内为所有患者成功实施这些干预措施,仍存在许多差距。[2024;53(2):e56-e61.].
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Curative Therapies for Sickle Cell Disease.

Sickle cell disease (SCD) is an autosomal recessive hemoglobinopathy that affects individuals worldwide. The mutation in the beta-globin gene leads to abnormal hemoglobin production, sickle hemoglobin, which polymerizes under stress leading to, among other end-organ manifestations, chronic hemolytic anemia, debilitating vaso-occlusive crises, and stroke. Unfortunately, chronic stress on end-organs impacts the life expectancy of patients with SCD, which in the United States averages 43 years, approximately 36 years less than people without the disease. Here, we review the progress made in curative interventions for those with SCD, namely allogeneic hematopoietic cell transplantation and gene therapy. These interventions continue to evolve as we better understand SCD pathophysiology, use new graft-versus-host disease prophylaxis regimens, expand stem cell donor options, and understand the genetic control of hemoglobin production. Although significant progress has been made, many gaps remain in the successful implementation of these interventions globally and for all patients. [Pediatr Ann. 2024;53(2):e56-e61.].

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来源期刊
Pediatric Annals
Pediatric Annals 医学-小儿科
CiteScore
1.80
自引率
0.00%
发文量
104
审稿时长
2 months
期刊介绍: Published for more than 40 years, Pediatric Annals is an online-only, monthly medical review journal dedicated to providing pediatricians and other clinicians with the latest practical information on the diagnosis and treatment of pediatric diseases and disorders. Begin to explore the Journal and all of its great benefits such as: -Single-topic summary reviews of important trends in pediatric medicine -Access to current articles, as well as several years of archived content -Columns including Healthy Baby/Healthy Child and Case Challenges
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