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遗传性骨髓衰竭综合征:生物学与诊断线索。

Inherited Bone Marrow Failure Syndromes: Biology and Diagnostic Clues.

机构信息

Department of Pathology and Immunology, Baylor College of Medicine/Texas Children's Hospital, 6621 Fannin Street, Suite WB1100, Houston, TX 77030, USA.

Department of Pathology and Immunology, Baylor College of Medicine/Texas Children's Hospital, 6621 Fannin Street, Suite WB1100, Houston, TX 77030, USA.

出版信息

Clin Lab Med. 2021 Sep;41(3):417-431. doi: 10.1016/j.cll.2021.04.014. Epub 2021 Jul 1.

Abstract

Inherited bone marrow failure syndromes are a group of genetic disorders associated with bone marrow production defects resulting in single or multiple cytopenias. Many of these disorders predispose the patient to hematologic and nonhematologic malignancies, requiring life-long follow-up. A positive family history of hematologic disorders or malignancies is frequent, as these disorders commonly run in families, and selection of family members as potential bone marrow donors should be performed with caution to avoid transplanting potentially defective stem cells. This review highlights the most common genetic disorders associated with bone marrow failure.

摘要

遗传性骨髓衰竭综合征是一组与骨髓产生缺陷相关的遗传疾病,导致单一或多种血细胞减少。许多这些疾病使患者易患血液系统和非血液系统恶性肿瘤,需要终身随访。这些疾病通常在家族中遗传,因此患者常有血液系统疾病或恶性肿瘤的阳性家族史,在选择家庭成员作为潜在骨髓供者时应谨慎进行,以避免移植潜在有缺陷的干细胞。本综述重点介绍了与骨髓衰竭相关的最常见的遗传疾病。

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