Congenital disorders of ribosome biogenesis and bone marrow failure.
Diamond Blackfan anemia (DBA) is a congenital bone marrow (BM) failure syndrome that typically results in macrocytic anemia within the first year of life. DBA is also associated with birth defects, increased incidence of cancer, and other cytopenias. Shwachman-Diamond syndrome (SDS) is a multisystem disease characterized by exocrine pancreatic dysfunction, impaired hematopoiesis, and leukemia predisposition. Other clinical features include skeletal, immunologic, hepatic, and cardiac disorders. Treatment for these BM failure syndromes, including stem cell transplantation (SCT), will be discussed in this review.
Sakamoto
Kathleen M
KM
Division of Hematology/Oncology, Department of Pediatrics, David Geffen School of Medicine, Los Angeles, California 90095-1752 USA. kms@ucla.edu
Shimamura
Akiko
A
Davies
Stella M
SM
D029503:Anemia, Diamond-Blackfan / Q000150:complications / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D000818:Animals; D001855:Bone Marrow Diseases / Q000150:complications / Q000151:congenital* / Q000503:physiopathology / Q000628:therapy*; D030342:Genetic Diseases, Inborn / Q000150:complications / Q000235:genetics / Q000503:physiopathology / Q000628:therapy*; D018380:Hematopoietic Stem Cell Transplantation / Q000379:methods; D006801:Humans; D012270:Ribosomes / Q000378:metabolism*