Longitudinal clinical manifestations of Fanconi anemia: A systematized review

IF 6.9 2区 医学 Q1 HEMATOLOGY Blood Reviews Pub Date : 2024-11-01 DOI:10.1016/j.blre.2024.101225
Alex Hoover , Lucie M. Turcotte , Rachel Phelan , Crystal Barbus , Arpana Rayannavar , Bradley S. Miller , Erin E. Reardon , Nicole Theis-Mahon , Margaret L. MacMillan
{"title":"Longitudinal clinical manifestations of Fanconi anemia: A systematized review","authors":"Alex Hoover ,&nbsp;Lucie M. Turcotte ,&nbsp;Rachel Phelan ,&nbsp;Crystal Barbus ,&nbsp;Arpana Rayannavar ,&nbsp;Bradley S. Miller ,&nbsp;Erin E. Reardon ,&nbsp;Nicole Theis-Mahon ,&nbsp;Margaret L. MacMillan","doi":"10.1016/j.blre.2024.101225","DOIUrl":null,"url":null,"abstract":"<div><div>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.</div></div>","PeriodicalId":56139,"journal":{"name":"Blood Reviews","volume":"68 ","pages":"Article 101225"},"PeriodicalIF":6.9000,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Blood Reviews","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0268960X24000584","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"HEMATOLOGY","Score":null,"Total":0}
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.
查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
范可尼贫血的纵向临床表现:系统回顾
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。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 去求助
来源期刊
Blood Reviews
Blood Reviews 医学-血液学
CiteScore
13.80
自引率
1.40%
发文量
78
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.
期刊最新文献
Editorial Board Breaking down frailty: Assessing vulnerability in acute myeloid leukemia Longitudinal clinical manifestations of Fanconi anemia: A systematized review Absolute and functional iron deficiency: Biomarkers, impact on immune system, and therapy Measurable residual disease (MRD)-testing in haematological cancers: A giant leap forward or sideways?
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1