X-连锁血小板减少症的诊断与治疗
Diagnosis and Treatment of X-Linked Thrombocytopenia
DOI: 10.12677/ACM.2023.134838, PDF,   
作者: 彭祥钰, 于 洁：重庆医科大学附属儿童医院血液肿瘤中心，重庆
关键词: X连锁血小板减少症；WASp；血小板减少；X-Linked Thrombocytopenia； WASp； Thrombocytopenia
摘要: X连锁血小板减少症(X-linked thrombocytopenia, XLT)是WAS相关疾病中临床表型相对较轻的一种，一般仅表现为血小板减少和/或小血小板。WAS相关疾病是一种罕见的X连锁免疫缺陷病，这类疾病是由WAS基因突变引起的，WAS基因突变影响WAS蛋白(Wiskott-Aldrich syndrome protein, WASp)表达水平，WASp仅在造血细胞中表达并调节肌动蛋白细胞骨架重塑，从而调节各种细胞功能，包括细胞迁移、免疫突触组装和信号传导。对婴幼儿期起病的血小板计数减少伴小血小板的男性患儿应警惕XLT可能，WAS基因检测和WASp检测可明确诊断，早期的干细胞移植是经典型WAS患者的首选治疗方案，而XLT患者的治疗方案尚无统一意见。本综述旨在综合国内外对于XLT疾病的研究，来探讨XLT的诊断与治疗方案。
Abstract: X-linked thrombocytopenia is a relatively mild clinical phenotype of WAS-associated disorders, usually presenting only with thrombocytopenia and/or microplatelets, and is a rare X-linked im-munodeficiency disorder caused by mutations in the WAS gene that affect the expression level of WAS protein, WASp, which is expressed only in haematopoietic cells and regulates actin Cytoskele-tal remodelling, which regulates a variety of cellular functions including cell migration, immune synapse assembly and signalling. Early stem cell transplantation is the treatment of choice for pa-tients with classic WAS, while there is no consensus on the treatment of XLT patients. The aim of this review is to synthesize the national and international research on XLT disease to discuss the diagnosis and treatment options for XLT.
文章引用：彭祥钰, 于洁. X-连锁血小板减少症的诊断与治疗[J]. 临床医学进展, 2023, 13(4): 5931-5937. https://doi.org/10.12677/ACM.2023.134838

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