Diagnostic guidance for hereditary neutropenia in children: Narrative literature review.
Tunis Med
; 101(7): 591-596, 2023 Jul 05.
Article
en Fr
| MEDLINE
| ID: mdl-38445418
ABSTRACT
In the era of genomics, orientation in the face of hereditary neutropenia still requires, first and foremost, a good clinical and cytological analysis. The thirty responsible genes now explain 60% of congenital neutropenia. These are rare since they are only found in 1 of all congenital neutropenia, estimated at 1% of the population. The clinical examination looks for phenotypes associated with syndromic hereditary neutropenia and cytology will guide this etiological research thanks to the data collected from blood count and bone marrow analysis. The objective of this narrative literature review is to provide an overview of the most recent literature regarding acquired and congenital chronic neutropenia and will provide a decision tree to guide towards aetiology. This will allow a better discussion with geneticists even if the genotype-phenotype correlation is not very strong.
Texto completo:
1
Colección:
01-internacional
Asunto principal:
Neutropenia
Límite:
Child
/
Humans
Idioma:
Fr
Revista:
La tunisie med
/
La tunisie medicale
/
Tunis Med
Año:
2023
Tipo del documento:
Article
País de afiliación:
Marruecos