Myers Kasiani C, Davies Stella M
Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
Biol Blood Marrow Transplant. 2009 Mar;15(3):279-92. doi: 10.1016/j.bbmt.2008.11.037.
Bone marrow failure (BMF) syndromes include a broad group of diseases of varying etiologies, in which hematopoeisis is abnormal or completely arrested in one or more cell lines. BMF can be an acquired aplastic anemia (AA) or can be congenital, as part of such syndromes as Fanconi anemia (FA), Diamond Blackfan anemia, and Schwachman Diamond syndrome (SDS). In this review, we first address the evolution and current status of bone marrow transplantation (BMT) in the pediatric population in the most common form of BMF, acquired AA. We then discuss pediatric BMT in some of the more common inherited BMF syndromes, with emphasis on FA, in which experience is greatest. It is important to consider the possibility of a congenital etiology in every child (and adult) with marrow failure, because identification of an associated syndrome provides insight into the likely natural history of the disease, as well as prognosis, treatment options for the patient and family, and long-term sequelae both of the disease itself and its treatment.
骨髓衰竭（BMF）综合征包括一大类病因各异的疾病，其中造血功能在一种或多种细胞系中异常或完全停滞。BMF可以是获得性再生障碍性贫血（AA），也可以是先天性的，如范可尼贫血（FA）、先天性纯红细胞再生障碍性贫血和施瓦茨曼-戴蒙德综合征（SDS）等综合征的一部分。在本综述中，我们首先探讨在最常见的BMF形式——获得性AA中，儿科人群骨髓移植（BMT）的发展历程和现状。然后，我们讨论一些更常见的遗传性BMF综合征中的儿科BMT，重点是经验最为丰富的FA。对于每一位患有骨髓衰竭的儿童（和成人），考虑先天性病因的可能性都很重要，因为识别相关综合征有助于深入了解疾病可能的自然史、预后、患者及其家庭的治疗选择，以及疾病本身及其治疗的长期后遗症。
