Pathophysiology and management of inherited bone marrow failure syndromes

Akiko Shimamura; Blanche P Alter

doi:10.1016/j.blre.2010.03.002

Pathophysiology and management of inherited bone marrow failure syndromes

Blood Rev. 2010 May;24(3):101-22. doi: 10.1016/j.blre.2010.03.002. Epub 2010 Apr 24.

Authors

Akiko Shimamura¹, Blanche P Alter

Affiliation

¹ Pediatric Hematology/Oncology, Fred Hutchinson Cancer Research Center and Seattle Children's Hospital, Seattle, WA, USA. shima2@u.washington.edu

Abstract

The inherited marrow failure syndromes are a diverse set of genetic disorders characterized by hematopoietic aplasia and cancer predisposition. The clinical phenotypes are highly variable and much broader than previously recognized. The medical management of the inherited marrow failure syndromes differs from that of acquired aplastic anemia or malignancies arising in the general population. Diagnostic workup, molecular pathogenesis, and clinical treatment are reviewed.

Publication types

Research Support, N.I.H., Extramural
Research Support, N.I.H., Intramural
Review

MeSH terms

Bone Marrow Diseases* / diagnosis
Bone Marrow Diseases* / genetics
Bone Marrow Diseases* / metabolism
Bone Marrow Diseases* / physiopathology
Bone Marrow Diseases* / therapy
Genetic Diseases, Inborn / genetics
Genetic Diseases, Inborn / metabolism
Genetic Diseases, Inborn / physiopathology
Genetic Diseases, Inborn / therapy
Humans
Syndrome

Abstract

Publication types

MeSH terms

Grants and funding