期刊
PEDIATRIC TRANSPLANTATION
卷 18, 期 1, 页码 E31-E34出版社
WILEY-BLACKWELL
DOI: 10.1111/petr.12175
关键词
congenital amegakaryocytic thrombocytopenia; MPL gene mutation; matched-unrelated donor; hematopoietic stem cell transplant; reduced intensity conditioning
CAMT is a bone marrow failure syndrome that usually presents with isolated thrombocytopenia soon after birth. HSCT is curative, and MAC is associated with increased transplant-related morbidity and mortality, especially in the unrelated setting. We used a RIC regimen with alemtuzumab, fludarabine, and melphalan in a seven-month-old patient with CAMT who underwent a MUD HSCT. The transplant was well tolerated with few complications. Neutrophil and platelet engraftment occurred on day +12 and +29, respectively, and she had 100% donor chimerisms on days +19.
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