Congenital neutropenia in children and adults

Česká verze

Authors: K. Staňo Kozubík ^1,2; Z. Vrzalová ^1,2; J. Trizuljak ^2,3; M. Skalníková ^1,2; L. Radová ¹; I. Blaháková ^1,2; J. Štika ¹; V. Bergerová ⁴; M. Šmída ^1,2; Š.- Pospíšilová ^{1 3}; M.- Doubek ^{1 3}
Authors place of work: Středoevropský technologický institut (CEITEC) MU Brno ¹; Interní hematologická a onkologická klinika LF MU a FN Brno ²; Ústav lékařské genetiky LF MU Brno ³; LF MU Brno ⁴
Published in the journal: Transfuze Hematol. dnes,27, 2021, No. 4, p. 297-303.
Category: Souhrnné/edukační práce
doi: https://doi.org/10.48095/cctahd2021297

Summary

Congenital neutropenias (CNs) are a group of genetic disorders that may even be diagnosed 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 diagnosed 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.

Keywords:

whole exome sequencing – hereditary neutropenia in adults – gene variants

Zdroje

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