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SM ISO690:2012 TOMACINSCHII, Victor, TOMACINSCHI, Cristina, ROBU, Marina. The evolution of the diagnosis of congenital neutropenias in the era of molecular technologies. In: Congresul consacrat aniversării a 75-a de la fondarea Universității de Stat de Medicină şi Farmacie „Nicolae Testemiţanu”, 21-23 octombrie 2020, Chişinău. Chişinău: USMF, 2020, p. 269. |
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Congresul consacrat aniversării a 75-a de la fondarea Universității de Stat de Medicină şi Farmacie „Nicolae Testemiţanu” 2020 | |||||
Congresul "Congresul consacrat aniversării a 75-a de la fondarea Universității de Stat de Medicină şi Farmacie „Nicolae Testemiţanu”" Chişinău, Moldova, 21-23 octombrie 2020 | |||||
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Pag. 269-269 | |||||
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Rezumat | |||||
Background. Congenital neutropenias (CN) constitute a group of rare genetic disorders characterized by: severe recurrent infections secondary to neutropenia, various organic dysfunctions and a high risk of leukemic transformation. Their incidence is estimated to be 1-4 cases per 1 million inhabitants. Objective of the study. This review aims to provide a comprehensive overview of the latest literature sources on the clinical and diagnostic features of congenital neutropenias. Material and Methods. Were studied the articles published in the last 10 years, searched through databases such as: PubMed, MEDLINE, Google scholar. Results. CN are rare genetic diseases characterized by an absolute number of neutrophils less than 1.5x109 /l that are associated with specific clinical phenotypes (pyogenic infections, gingivo-stomatitis, chronic periodontitis, etc.). The most common form is Kostmann's neutropenia, primarily described in 1951, characterized by maturation blockage of the neutrophils at the promyelocyte/myelocyte stage. In the last 20-30 years due to molecular biology techniques, especially sequencing, the CN classification has expanded. Currently, 24 genes have been identified as a molecular substrate for NC (ELANE; HAX1; GFI1; CXCR4 etc.) Conclusion. Knowledge of the genetic defects of CN has valuable implications not only in the classification of these nosological entities, but can also serve as a target for potential molecular therapies in the near future. |
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Cuvinte-cheie Congenital neutropenia, molecular diagnosis, Neutrophils, neutropenii congenitale, diagnostic molecular, neutrofile |
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