Li Jian Hua, Sun Shu Wen, Ai Yuan, Yang Xue, Zhu Yi Ping
Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.
Key Laboratory of Birth Defects and Related Diseases of Women and Children, Sichuan University, Ministry of Education, Chengdu, China.
Front Pediatr. 2022 Feb 7;9:776927. doi: 10.3389/fped.2021.776927. eCollection 2021.
Glanzmann thrombasthenia (GT) is a rare autosomal recessive platelet disorder due to a qualitative or quantitative anomaly of the platelet membrane glycoprotein GPIIb/IIIa. Its clinical manifestations include mild to severe bleeding. GT diagnosis mainly depends on platelet function analysis, flow cytometry, and gene detection. Treatment methods include conservative symptomatic treatment and allogeneic hematopoietic stem cell transplantation (allo-HSCT). Allo-HSCT is the only clinical radical method for GT. Herein, we report a 2-year-old boy with GT successfully cured by related identical peripheral blood stem cell transplantation (PBSCT). The platelet disorder was corrected to a normal level after PBSCT, with no significant complication related to the transplantation. Hematopoietic stem cell transplantation with full-matched donor in early stage could be a treatment option for GT.
血小板无力症（GT）是一种罕见的常染色体隐性血小板疾病，由血小板膜糖蛋白GPIIb/IIIa的定性或定量异常引起。其临床表现包括轻度至重度出血。GT的诊断主要依靠血小板功能分析、流式细胞术和基因检测。治疗方法包括保守对症治疗和异基因造血干细胞移植（allo-HSCT）。allo-HSCT是GT唯一的临床根治方法。在此，我们报告一名2岁患血小板无力症的男孩通过相关同基因外周血干细胞移植（PBSCT）成功治愈。PBSCT后血小板疾病被纠正至正常水平，且无与移植相关的明显并发症。早期采用全相合供者的造血干细胞移植可能是血小板无力症的一种治疗选择。
