Kostmann Syndrome: A Comprehensive Review of a Rare Congenital Neutropenia Disorder

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Published: Nov 4, 2023
DOI: https://doi.org/10.47191/ijmscrs/v3-i11-09
Keywords:
Kostmann, syndrome, neutropenia, hematological.

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Elsa Maria Roselli Gutierrez
Universidad Autónoma De Guadalajara, Guadalajara, Jalisco. México.
Diego Reyes Arriaga
Universidad Autónoma De Guadalajara, Guadalajara, Jalisco. México.
Rosario Guadalupe Saines Herrera
Universidad Autónoma De Guadalajara, Guadalajara, Jalisco. México.
Gabriela Nohemi Flores Gutierrez
Universidad de Guadalajara, Centro Universitario de Tonalá, Tonalá Jalisco. México
Samuel Rene Andrade Rivera
Universidad Autónoma De Guadalajara, Guadalajara, Jalisco. México.
Sophia Elizabeth Lopez Alvarez
Universidad Autónoma De Guadalajara, Guadalajara, Jalisco. México.

Abstract

Kostmann Syndrome, also known as severe congenital neutropenia type 1 (SCN1), is an exceedingly rare and severe hematological disorder characterized by a near absence of neutrophils in the peripheral blood. This congenital anomaly presents significant challenges in terms of diagnosis, management, and treatment. In this comprehensive article, we delve into the multifaceted aspects of Kostmann Syndrome, providing an in-depth analysis of its pathogenesis, clinical manifestations, genetic underpinnings, and therapeutic interventions. Furthermore, we highlight recent advancements in the understanding of this condition and emerging strategies for its early detection and improved patient care. With this review, we aim to enhance medical practitioners' and researchers' awareness of this condition and facilitate the development of more effective therapeutic modalities for Kostmann Syndrome.

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How to Cite
Gutierrez , E. M. R. ., Arriaga , D. R. ., Saines Herrera , R. G. ., Flores Gutierrez, G. N. ., Andrade Rivera , S. R., & Lopez Alvarez , S. E. (2023). Kostmann Syndrome: A Comprehensive Review of a Rare Congenital Neutropenia Disorder. International Journal of Medical Science and Clinical Research Studies, 3(11), 2592–2596. https://doi.org/10.47191/ijmscrs/v3-i11-09
Issue
Vol. 3 No. 11 (2023): Volume 03 Issue 11 November 2023
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Articles
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This work is licensed under a Creative Commons Attribution 4.0 International License.

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