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Review
. 2023 Jul 5;101(7):591-596.

Diagnostic guidance for hereditary neutropenia in children: Narrative literature review

[Article in French]
Zakaria Kasmi  1 , Jalila El Bakkouri  1   2 , Fatima Ailal  1   3 , Bouchra Oukkache  4 , Jean Donadieu  5 , Ahmed Aziz Bousfiha  1   2
Affiliations
Review

Diagnostic guidance for hereditary neutropenia in children: Narrative literature review

[Article in French]
Zakaria Kasmi et al. Tunis Med. .

Abstract
in English, French

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.

A l’ère de la génomique l’orientation devant une neutropénie héréditaire nécessite encore et d’abord une bonne analyse clinique et cytologique. La trentaine de gènes responsables explique aujourd’hui 60% des neutropénies congénitales. Celles-ci sont rares puisqu’elles ne sont retrouvées que dans 1‰ de toutes les neutropénies congénitales et qui sont estimées à 1% de la population. La clinique recherche les phénotypes associés aux neutropénies héréditaires syndromiques et la cytologie orientera aussi cette recherche éthologique grâce à la profondeur de la neutropénie sur l’hémogramme et les données du myélogramme.L’objectif de cette revue narrative est de donner un aperçu de la littérature la plus récente concernant les neutropénies chroniques acquises et congénitales, et proposera un arbre décisionnel pour orienter vers l’étiologie. Ceci permettra une meilleure discussion avec les généticiens même si la corrélation génotype-phénotype n’est pas très forte.

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Figures

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Figure 1. Démarche diagnostic d’une neutropénie congénitale. NFS (Numération Formule Sanguine), SPL (Sous Population Lymphocytaire), Ig (Immunoglobulines), VIH (virus de l’immunodéficience humaine), Ac (Anticorps)
See this image and copyright information in PMC

References

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