期刊
ANNALS OF MEDICINE
卷 46, 期 6, 页码 353-363出版社
TAYLOR & FRANCIS LTD
DOI: 10.3109/07853890.2014.915579
关键词
Diamond-Blackfan anemia; aplastic anemia; congenital neutropenia; dyskeratosis congenita; Fanconi anemia; myelodysplastic syndromes; Shwachman-Diamond syndrome; thrombocytopenia absent radii syndrome
资金
- NIH [CA105312, DK084188]
- Buck Family Endowed Chair in Hematology at the Children's Hospital of Philadelphia
The inherited bone marrow failure syndromes are a diverse group of genetic diseases associated with inadequate production of one or more blood cell lineages. Examples include Fanconi anemia, dyskeratosis congenita, Diamond-Blackfan anemia, thrombocytopenia absent radii syndrome, severe congenital neutropenia, and Shwachman-Diamond syndrome. The management of these disorders was once the exclusive domain of pediatric subspecialists, but increasingly physicians who care for adults are being called upon to diagnose or treat these conditions. Through a series of patient vignettes, we highlight the clinical manifestations of inherited bone marrow failure syndromes in adolescents and young adults. The diagnostic and therapeutic challenges posed by these diseases are discussed.
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