Shimamura Akiko
Department of Hematology, Children's Hospital Boston, Karp Research Laboratories, Boston, MA 02115, USA.
Semin Hematol. 2006 Jul;43(3):178-88. doi: 10.1053/j.seminhematol.2006.04.006.
Shwachman-Diamond syndrome (SDS) is an autosomal recessive marrow failure syndrome associated with exocrine pancreatic insufficiency and leukemia predisposition. Bone marrow failure typically manifests with neutropenia, but anemia, thrombocytopenia, or aplastic anemia may also develop. Additional organ systems, such as liver or bone, may also be affected. Clonal cytogenetic abnormalities, particularly those involving chromosome 7 such as monosomy 7 or isochromosome 7, may develop. Mutations in the SBDS gene are found in approximately 90% of patients meeting clinical diagnostic criteria. SBDS is a highly conserved gene of unknown function. Studies of the yeast orthologue YLR022c and structurally related proteins suggest a role in RNA metabolism. In human cells, the SBDS protein localizes to both the cytoplasm and the nucleus, and shuttles in and out of the nucleolus in a cell cycle-dependent manner. A discussion of diagnostic workup, medical management, and treatment is presented.
施瓦赫曼-戴蒙德综合征（SDS）是一种常染色体隐性遗传性骨髓衰竭综合征，与外分泌胰腺功能不全和白血病易感性相关。骨髓衰竭通常表现为中性粒细胞减少，但也可能发展为贫血、血小板减少或再生障碍性贫血。其他器官系统，如肝脏或骨骼，也可能受到影响。可能会出现克隆性细胞遗传学异常，特别是那些涉及7号染色体的异常，如7号染色体单体或等臂染色体7。在符合临床诊断标准的患者中，约90%可发现SBDS基因突变。SBDS是一个功能未知的高度保守基因。对酵母同源物YLR022c和结构相关蛋白的研究表明其在RNA代谢中起作用。在人类细胞中，SBDS蛋白定位于细胞质和细胞核，并以细胞周期依赖的方式穿梭进出核仁。本文还讨论了诊断检查、药物管理和治疗方法。
