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2021, Number 4

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Acta Pediatr Mex 2021; 42 (4)

Inherited Bone Marrow Failure Syndromes: etiology, pathophysiology, diagnosis, and management

Fiesco-Roa M, Monsivais-Orozco A, Rodríguez A, Frias S, García-de Teresa B

Language: Spanish
References: 69
Page: 192-207
PDF size: 449.99 Kb.


ABSTRACT

Inherited bone marrow failure syndromes (IBMFS) are a heterogeneous group of genetic diseases due to pathogenic variants in genes related to hematopoiesis. Genomic analysis techniques have delimited at least 13 well-characterized syndromes. The IBMFS are clinically heterogeneous, the phenotypic spectrum varies from cryptic features to patients with evident manifestations. Furthermore, patients can have extramedullar manifestations, such as cancer and/or functional and structural abnormalities. These diseases require a high index of suspicion and should be considered in any patient with alterations in hematopoiesis, even if extramedullary manifestations are not seen. The IBMFS are complex pathologies whose approach and management require an interdisciplinary team of specialists. This review gathers the etiology, pathophysiology, and phenotype of the main IBMFS.


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