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Abstract：
Fanconi anemia (FA), dyskeratosis congenita (DC), and Diamond Blackfan anemia (DBA) are 3 of the most common inherited bone marrow failure syndromes (IBMFS), in which the hematologic manifestations can be cured with hematopoietic cell transplantation (HCT). Later in life, these patients face a variety of medical conditions, which may be a manifestation of underlying disease or due to pre-HCT therapy, the HCT, or a combination of all these elements. Very limited long-term follow-up data exist in these populations, with FA the only IBMFS that has specific published data. During the international consensus conference sponsored by the Pediatric Blood and Marrow Transplant Consortium entitled \"Late Effects Screening and Recommendations following Allogeneic Hematopoietic Cell Transplant (HCT) for Immune Deficiency and Nonmalignant Hematologic Disease\" held in Minneapolis, Minnesota in May of 2016, a half-day session was focused specifically on the unmet needs for these patients with IBMFS. A multidisciplinary group of experts discussed what is currently known, outlined an agenda for future research, and laid out long-term follow-up guidelines based on a combination of evidence in the literature as well as expert opinion. This article addresses the state of science in that area as well as consensus regarding the agenda for future research, with specific screening guidelines to follow in the next article from this group.
摘要：
范可尼贫血（FA），先天性角化障碍（DC），DiamondBlackfan贫血（DBA）是3种最常见的遗传性骨髓衰竭综合征（IBMFS），其中血液学表现可以通过造血细胞移植（HCT）治愈。在以后的生活中，这些患者面临各种医疗条件，这可能是潜在疾病的表现或由于HCT前治疗，HCT,或所有这些元素的组合。这些人群的长期随访数据非常有限，FA是唯一具有特定发布数据的IBMFS。在明尼阿波利斯举行的由儿科血液和骨髓移植协会主办的题为“异基因造血细胞移植（HCT）对免疫缺陷和非恶性血液病的后期效应筛查和建议”的国际共识会议期间，2016年5月，明尼苏达州举行了为期半天的会议，专门针对这些IBMFS患者的未满足需求。一个多学科专家组讨论了目前已知的情况，概述了未来研究的议程，并根据文献中的证据和专家意见制定了长期随访指南。本文讨论了该领域的科学状况以及对未来研究议程的共识，在该组的下一篇文章中遵循具体的筛查指南。
