Variable response to the diepoxybutane test in two dizygotic twins with Fanconi's anemia and flow cytometry for diagnosis confirmation
| Autor: | T. Schroeder-Kurth, R Toraldo, V Pistoia, Carlo Tolone, B. Porfirio, G. Canino, M. D'Avanzo, H. Hoehn |
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| Přispěvatelé: | Toraldo, Roberto, Canino, G, Tolone, Carlo, D'Avanzo, M, Porfirio, B, Hoehn, H, SCHROEDER KURTH, T, Pistoia, V. |
| Jazyk: | angličtina |
| Rok vydání: | 1998 |
| Předmět: |
Male
Pathology medicine.medical_specialty Anemia Dizygotic twin Diepoxybutane chemistry.chemical_compound Adrenal Cortex Hormones Fanconi anemia Chromosome instability Diseases in Twins Twins Dizygotic medicine Humans Blood Transfusion Lymphocytes Aplastic anemia Child Erythropoietin Chromosome Aberrations business.industry Genetic heterogeneity Cell Cycle Bone marrow failure Hematology Flow Cytometry medicine.disease Cross-Linking Reagents Fanconi Anemia Oncology chemistry Pediatrics Perinatology and Child Health Immunology Androgens Epoxy Compounds Prednisone business |
| Zdroj: | ResearcherID |
| Popis: | Fanconi's anemia (FA) is a rare, genetically heterogeneous, autosomal recessive disorder characterized by bone marrow failure, congenital abnormalities, chromosome instability, and increased susceptibility to neoplasia. Congenital abnormalities vary in location and in severity and not all patients are affected. Although the primary defect of FA is unknown, hypersensitivity to the clastogenic effect of agents that introduce cross-links in the DNA, such as diepoxybutane (DEB), is a marker of the FA phenotype in patients suffering from aplastic anemia without the physical characteristics of the syndrome and, conversely, in cases with abnormalities in the preanemic phase. We report the case of two dizygotic twins suffering from FA with discordant hematologic data. The DEB test repeated several times in various laboratories yielded conflicting results, whereas cell cycle studies by flow cytometry revealed a pattern typical of FA patients. Moreover, the flow cytometric pattern was correlated with the clinical severity of the disease. |
| Databáze: | OpenAIRE |
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