TY - JOUR
T1 - Inherited bone marrow failure syndromes in adolescents and young adults
AU - Wilson, David B.
AU - Link, Daniel C.
AU - Mason, Philip J.
AU - Bessler, Monica
N1 - Funding Information:
Declaration of interest: We thank William McAlister, Susan Bayliss, and Patrick Jay for providing images. M.B., P.J.M., and D.B.W. are supported by NIH grant CA105312. M.B. has additional support from Buck Family Endowed Chair in Hematology at the Children’s Hospital of Philadelphia and by NIH grant DK084188. The authors report no conflicts of interest.
Publisher Copyright:
© 2014 Informa UK, Ltd.
PY - 2014/9/1
Y1 - 2014/9/1
N2 - 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.
AB - 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.
KW - Aplastic anemia
KW - Congenital neutropenia
KW - Diamond-Blackfan anemia
KW - Dyskeratosis congenita
KW - Fanconi anemia
KW - Myelodysplastic syndromes
KW - Shwachman-Diamond syndrome
KW - Thrombocytopenia absent radii syndrome
UR - http://www.scopus.com/inward/record.url?scp=84907061756&partnerID=8YFLogxK
U2 - 10.3109/07853890.2014.915579
DO - 10.3109/07853890.2014.915579
M3 - Review article
C2 - 24888387
AN - SCOPUS:84907061756
SN - 0785-3890
VL - 46
SP - 353
EP - 363
JO - Annals of Medicine
JF - Annals of Medicine
IS - 6
ER -