Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference.
Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference.
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DOI：
10.1111/j.1365-2141.2008.07269.x
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发表时间：
2008-09
影响因子：
6.5
通讯作者：
Participants of Sixth Annual Daniella Maria Arturi International Consensus Conference
中科院分区：
文献类型：
--
作者：
Vlachos A;Ball S;Dahl N;Alter BP;Sheth S;Ramenghi U;Meerpohl J;Karlsson S;Liu JM;Leblanc T;Paley C;Kang EM;Leder EJ;Atsidaftos E;Shimamura A;Bessler M;Glader B;Lipton JM;Participants of Sixth Annual Daniella Maria Arturi International Consensus Conference
钻石黑扇贫血(DBA)是一种罕见的遗传性红细胞再生障碍性贫血，具有遗传和临床异质性。经典的DBA在生命的第一年影响大约每百万个活产和礼物中的七个。然而，随着在DBA中发现突变基因，成人和儿童都被描述为表型不太明显的非经典病例。在护理这些患者时，由于缺乏关于该病自然病史的完整信息，往往很难清楚地了解治疗方案及其结果。本文件的目的是回顾诊断标准，评估可用的治疗方案，包括皮质类固醇和输血疗法以及干细胞移植，并提出优化患者护理的计划。本文还对DBA的先天异常、遗传方式、癌症易感性和妊娠进行了综述。在可能的情况下，将作出循证的结论；然而，与许多罕见疾病一样，数据往往是轶事，建议是基于经验丰富的临床医生的最佳判断。本报告所述有关诊断和管理的建议是一次国际协商会议审议和讨论的结果。
Diamond Blackfan anaemia (DBA) is a rare, genetically and clinically heterogeneous, inherited red cell aplasia. Classical DBA affects about seven per million live births and presents during the first year of life. However, as mutated genes have been discovered in DBA, non-classical cases with less distinct phenotypes are being described in adults as well as children. In caring for these patients it is often difficult to have a clear understanding of the treatment options and their outcomes because of the lack of complete information on the natural history of the disease. The purpose of this document is to review the criteria for diagnosis, evaluate the available treatment options, including corticosteroid and transfusion therapies and stem cell transplantation, and propose a plan for optimizing patient care. Congenital anomalies, mode of inheritance, cancer predisposition, and pregnancy in DBA are also reviewed. Evidence-based conclusions will be made when possible; however, as in many rare diseases, the data are often anecdotal and the recommendations are based upon the best judgment of experienced clinicians. The recommendations regarding the diagnosis and management described in this report are the result of deliberations and discussions at an international consensus conference.
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影响因子：
6.5
作者：
CASADEVALL, N;CROISILLE, L;COULOMBEL, L
通讯作者：
COULOMBEL, L
影响因子：
12.8
作者：
Akiyama, M;Yanagisawa, T;Eto, Y
通讯作者：
Eto, Y
DOI：
10.1016/s0002-9378(99)70214-0
发表时间：
1999-02-01
影响因子：
9.8
作者：
Aessopos, A;Karabatsos, F;Karagiorga, M
通讯作者：
Karagiorga, M
影响因子：
5.2
作者：
CATHIE, IAB
通讯作者：
CATHIE, IAB
影响因子：
39.3
作者：
Anderson, LJ;Holden, S;Pennell, DJ
通讯作者：
Pennell, DJ