Alex Hoover , Lucie M. Turcotte , Rachel Phelan , Crystal Barbus , Arpana Rayannavar , Bradley S. Miller , Erin E. Reardon , Nicole Theis-Mahon , Margaret L. MacMillan
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引用次数: 0
Abstract
Fanconi anemia (FA) is a rare and complex inherited genetic disorder characterized by impaired DNA repair mechanisms leading to genomic instability. Individuals with FA have increased susceptibility to congenital anomalies, progressive bone marrow failure, leukemia and malignant tumors, endocrinopathies and other medical issues. In recent decades, steadily improved approaches to hematopoietic cell transplantation (HCT), the only proven curative therapy for the hematologic manifestations of FA, have significantly increased the life expectancy of affected individuals, illuminating the need to understand the long-term consequences and multi-organ ramifications. Utilizing a systematized review approach with narrative synthesis of each primary issue and organ system, we shed light on the challenges and opportunities for optimizing the care and quality of life for individuals with FA and identify knowledge gaps informing future research directions.
范可尼贫血症(Fanconi anemia,FA)是一种罕见的复杂遗传性疾病,其特点是 DNA 修复机制受损,导致基因组不稳定。范可尼贫血症患者易患先天性畸形、进行性骨髓衰竭、白血病和恶性肿瘤、内分泌疾病和其他疾病。近几十年来,造血细胞移植(HCT)方法不断改进,这是治疗 FA 血液学表现的唯一行之有效的疗法,大大延长了患者的预期寿命,这说明我们有必要了解其长期后果和多器官影响。我们采用系统化的综述方法,对每个主要问题和器官系统进行叙述性综合,揭示了优化 FA 患者护理和生活质量所面临的挑战和机遇,并确定了未来研究方向的知识缺口。
期刊介绍:
Blood Reviews, a highly regarded international journal, serves as a vital information hub, offering comprehensive evaluations of clinical practices and research insights from esteemed experts. Specially commissioned, peer-reviewed articles authored by leading researchers and practitioners ensure extensive global coverage across all sub-specialties of hematology.