【摘要】 目的 探索MPL基因突变相关先天性无巨核细胞性血小板减少症(congenital amegakaryocytic thrombocytopenia,CAMT)的临床特征。方法 参照罕见病研究常用询证方式，归纳典型病例，收集自2010年起所有国内外46篇文献中共计85例临床数据，统计分析CAMT的临床特征和诊治效果。结果 CAMT主要特征为：女性占比高于男性(1.67∶1)，起病年龄较早(平均12.1个月)，诊断年龄滞后(平均46个月)；以皮肤、黏膜出血为主，但22例颅内出血，其中4例宫内颅内出血；均存在不同程度外周血小板计数下降：1.0×10~9/L～83.0×10~9/L；均存在MPL基因突变，其中纯合子52例，复合杂合子33例；存在显著全血细胞减少趋势；血浆血小板生成素(thrombopoietin,TPO)水平显著增高，均值1 505.8 pg/ml；非造血系统异常表现达52%。唯一根治疗法为异基因造血干细胞移植(allogeneic hematopoietic stem cell transplantation,allo-HSCT),TPO受体激动剂为缺乏allo-HSCT条件患儿的替代药物。结论 CAMT在新生儿期或婴儿早期发病，缺乏其他特殊表现，易被误诊，需谨慎对待鉴别要点。几乎所有CAMT均可能进展为三系血细胞减低，并呈现典型再生障碍性贫血表现。艾曲波帕及罗米司亭可作为allo-HSCT的替代治疗药物。更多还原

【Abstract】 Objective To explore the clinical characteristics of MPL mutation-related congenital amegakaryocytic thrombocytopenia(CAMT). Methods Typical cases of CAMT were summarized by referring to the common confirmation method used in rare disease research. A total of 85 cases of clinical data from 46 literatures at home and abroad were collected since 2010. Statistical analysis was performed to show the clinical characteristics and diagnosis and treatment effect of CAMT. Results The main characteristics of CAMT were summarized as follows. The proportion of female patients was higher than that of male patients(1.67∶1), the onset age was earlier(average 12.1 months), and the diagnosis age was delayed(average 46 months). These cases mainly presented with skin and mucous membrane hemorrhage, but 22 cases had intracranial hemorrhage, of which 4 cases had intrauterine intracranial hemorrhage. All patients had decreased peripheral blood plaques(1.0×10~9/L-83.0×10~9/L). MPL gene mutation was presented in all patients, including homozygous 52 cases and complex heterozygous 33 cases. There was a significant trend of pancytopenia. The plasma thrombopoietin(TPO)level was significantly increased, with an average of 1 505.8 pg/ml. Non-hematopoietic system abnormalities up to 52%. The only radical treatment is allogeneic hematopoietic stem cell transplantation(allo-HSCT), and TPO agonists are alternative drugs for children lacking allo-HSCT condition. Conclusion The onset of CAMT in the neonatal period or early infant without other special manifestations, so it is easy to be misdiagnosed. Almost all CAMTs may progress to triple hemocytosis with typical aplastic anemia. Aitripopal and romisteine can be used as drugs to replace allo-HSCT.更多还原