Congenital Amegakaryocytic Thrombocytopenia: Clinical Presentation, Diagnosis, and Treatment
Congenital Amegakaryocytic Thrombocytopenia: Clinical Presentation, Diagnosis, and Treatment
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DOI：
10.1055/s-0031-1291377
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发表时间：
2011-09-01
影响因子：
5.7
通讯作者：
Germeshausen, Manuela
中科院分区：
文献类型：
--
作者：
Ballmaier, Matthias;Germeshausen, Manuela
先天性无巨核细胞性血小板减少症(CAMT，MIM#604498)是一种罕见的遗传性骨髓衰竭综合征，出生时表现为孤立的低巨核细胞减少症，无其他特征的生理异常。大多数患者在出生后的头几年会出现严重的再生障碍性贫血和三倍体细胞减少症，而造血干细胞移植是唯一的治疗方法。在大多数情况下，这种疾病是由编码造血生长因子血小板生成素受体的MPL基因的纯合子或复合杂合性突变引起的。本综述总结了自1990年以来报道的96例CAMT患者的临床和实验室资料。
Congenital amegakaryogtic thrombocytopenia (CAMT, MIM #604498) is a rare inherited bone marrow failure syndrome presenting as isolated hypomegakaryocytic thrombocytopenia at birth without other characteristic physical anomalies. Most of the patients develop a severe aplastic anemia and trilineage cytopenia during the first years of life and hematopoietic stern cell transplantation is the only curative treatment. In most of the cases the disease is caused by homozygous or compound heterozygous mutations in the gene MPL encoding the receptor for the hematopoietic growth factor thrombopoietin. The present review summarizes clinical and laboratory data for 96 patients with CAMT, reported since 1990.