[Diagnosis and management of inherited bone marrow failure syndrome].
Rinsho Ketsueki
; 56(10): 1914-21, 2015 Oct.
Article
en Ja
| MEDLINE
| ID: mdl-26458429
ABSTRACT
The inherited bone marrow failure syndromes (IBMFS) are rare disorders in which there is usually some form of bone marrow failure and typical changes in physical appearance, associated with a family history of the same disorder. Patients with IBMFS have a very high risk of developing myelodysplastic syndrome, acute myeloid leukemia, and solid tumors. The latest technology applied to the molecular pathogenesis of these disorders has led to identification of specific genetic mutations and now facilitates determining the appropriate diagnosis and management of afflicted patients. In this section, we describe physical and laboratory findings and management of the major IBMFS Fanconi anemia, dyskeratosis congenita, Shwachman-Diamond syndrome, and Diamond Blackfan anemia. We also discuss their possible implications in the clinical features of Japanese patients.
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Predisposición Genética a la Enfermedad
/
Hemoglobinuria Paroxística
Tipo de estudio:
Diagnostic_studies
/
Etiology_studies
/
Prognostic_studies
Límite:
Humans
Idioma:
Ja
Revista:
Rinsho Ketsueki
Año:
2015
Tipo del documento:
Article