期刊
SEMINARS IN THROMBOSIS AND HEMOSTASIS
卷 37, 期 6, 页码 673-681出版社
THIEME MEDICAL PUBL INC
DOI: 10.1055/s-0031-1291377
关键词
Bone marrow failure; thrombopoietin; MPL gene; hematopoietic stem cell transplantation; thrombocytopenia
资金
- Federal Ministry of Education and Research (German Network on Congenital Bone Marrow Failure Syndromes)
- German Research Foundation (DFG) [SFB566]
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.
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