We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
Kongenitální neutropenie u dětí a dospělých.
- Authors
K., Staňo Kozubík; Z., Vrzalová; J., Trizuljak; M., Skalníková; L., Radová; I., Blaháková; J., Štika; V., Bergerová; M., Šmída; Š., Pospíšilová; M., Doubek
- Abstract
Congenital neutropenias (CNs) are a group of genetic disorders that may even be dia gnosed in adulthood. In such cases, they manifest most often as mild neutropenia and cytopenia and other clinical symptoms tend to be less pronounced compared to CN dia gnosed in childhood. Several gene variants responsible for the CN phenotype have been identified by molecular genetic approaches, especially by exome sequencing. Mutations of some of these genes also increase the risk of patients developing myelodysplastic syndrome or acute myeloid leukaemia. Proper patient monitoring strategies, genetic counselling and optimal treatment protocols can substantially affect the prognosis of these disorders.
- Publication
Transfusiology & Haematology Today / Transfuze a Hematologie Dnes, 2021, Vol 27, Issue 4, p297
- ISSN
1213-5763
- Publication type
Article
- DOI
10.48095/cctahd2021297