范可尼贫血的纵向临床表现：系统评价。
Longitudinal clinical manifestations of Fanconi anemia: A systematized review.
发表日期：2024 Aug 02
作者：
Alex Hoover, Lucie M Turcotte, Rachel Phelan, Crystal Barbus, Arpana Rayannavar, Bradley S Miller, Erin E Reardon, Nicole Theis-Mahon, Margaret L MacMillan
来源：
BLOOD REVIEWS
摘要：
范可尼贫血 (FA) 是一种罕见且复杂的遗传性疾病，其特征是 DNA 修复机制受损，导致基因组不稳定。患有 FA 的个体更容易出现先天性异常、进行性骨髓衰竭、白血病和恶性肿瘤、内分泌疾病和其他医疗问题。近几十年来，造血细胞移植 (HCT) 方法的稳步改进是治疗 FA 血液学表现的唯一经过验证的治疗方法，显着延长了受影响个体的预期寿命，这表明有必要了解其长期后果和多因素治疗。器官的影响。利用系统化的回顾方法，对每个主要问题和器官系统进行叙述性综合，我们揭示了优化 FA 患者护理和生活质量的挑战和机遇，并确定知识差距，为未来的研究方向提供信息。版权所有 © 2024。已发布由爱思唯尔有限公司
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.Copyright © 2024. Published by Elsevier Ltd.