Fanconi Anemia: How to Recognize It Before Bone Marrow Failure?
Fanconi anemia is the most common of the rare inherited bone marrow failure syndromes. It is caused by genetic mutations that lead to genomic instability, the hallmark of the disorder. Therefore, patients are extremely vulnerable to bone marrow failure, leukemia and neoplasms. Several physical anom...
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| Autores principales: | , , |
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| Formato: | article |
| Lenguaje: | EN PT |
| Publicado: |
Sociedade Portuguesa de Pediatria
2021
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| Materias: | |
| Acceso en línea: | https://doaj.org/article/239f129e6efe4ae68d8e4bc663bcb457 |
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| Sumario: | Fanconi anemia is the most common of the rare inherited bone marrow failure syndromes. It is caused by genetic mutations that lead to genomic instability, the hallmark of the disorder. Therefore, patients are extremely vulnerable to bone marrow failure, leukemia and neoplasms. Several physical anomalies have been associated, affecting multiple organ systems. We present three cases in whom the diagnosis was made before the onset of aplasia, highlighting the important clinical clues that physicians should be aware of.
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