Downloads
Abstract
Severe congenital neutropenia (SCN) is an exceptionally rare genetic disorder associated with life-threatening bacterial infections. Among the several genetic variations related to SCN, heterozygous mutations in the ELANE gene encoding neutrophil elastase account for approximately 40 - 55% of the genetic causes. Herein, we present the first documented case of SCN in a Vietnamese girl from the Central region of Vietnam. The diagnosis was confirmed through genetic analysis of the ELANE gene, a known causative gene in SCN. The patient exhibited severe neutropenia and a history of recurrent infections that did not respond well to treatment. Treatment involved the administration of granulocyte-stimulating factor (G-CSF) and antibiotics, resulting in a successful increase in neutrophil counts. This report contributes to the understanding of SCN’s clinical presentation, diagnosis, and management, particularly in regions with limited documented cases.
References
Donadieu J, Fenneteau O, Beaupain B, Mahlaoui N, Chantelot CB. Congenital neutropenia: diagnosis, molecular bases and patient management. Orphanet Journal of Rare Diseases. 2011;6(1):26.
Ancliff PJJBr. Congenital neutropenia. 2003;17(4):209-216.
Skokowa J, Dale DC, Touw IP, Zeidler C, Welte K. Severe congenital neutropenias. Nature Reviews Disease Primers. 2017;3(1):17032.
Bellanné-Chantelot C, Clauin S, Leblanc T, Cassinat B, Rodrigues-Lima F, Beaufils S, et al. Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register. 2004;103(11):4119-4125.
Newburger PE, Pindyck TN, Zhu Z, Bolyard AA, Aprikyan AA, Dale DC, et al. Cyclic neutropenia and severe congenital neutropenia in patients with a shared ELANE mutation and paternal haplotype: evidence for phenotype determination by modifying genes. 2010;55(2):314-317.
Grenda DS, Murakami M, Ghatak J, Xia J, Boxer LA, Dale D, et al. Mutations of the ELA2 gene found in patients with severe congenital neutropenia induce the unfolded protein response and cellular apoptosis. Blood. 2007;110(13):4179-4187.
Vu Q, Wada T, Tran T, Ngo D, Dinh T, Nguyen C, et al. Severe congenital neutropenia caused by the ELANE gene mutation in a Vietnamese boy with misdiagnosis of tuberculosis and autoimmune neutropenia: A case report. BMC hematology. 2015;152.
Donadieu J, Beaupain B, Fenneteau O, BellannéChantelot C. Congenital neutropenia in the era of genomics: classification, diagnosis, and natural history. 2017;179(4):557-574.
Touw IPJH, the American Society of Hematology Education Program Book. Game of clones: the genomic evolution of severe congenital neutropenia. 2015;2015(1):1-7.
Köllner I, Sodeik B, Schreek S, Heyn H, von Neuhoff N, Germeshausen M, et al. Mutations in neutrophil elastase causing congenital neutropenia lead to cytoplasmic protein accumulation and induction of the unfolded protein response. 2006;108(2):493-500.
Horwitz MS, Corey SJ, Grimes HL, Tidwell TJHOC. ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiology. 2013;27(1):19-41.
Walkovich K , Boxer LAJPiR. How to approach neutropenia in childhood. 2013;34(4):173-184.
Rotulo GA, Plat G, Beaupain B, Blanche S, Moshous D, Sicre de Fontbrune F, et al. Recurrent bacterial infections, but not fungal infections, characterise patients with ELANE-related neutropenia: a French Severe Chronic Neutropenia Registry study. 2021;194(5):908-920.
Xia J, Bolyard AA, Rodger E, Stein S, Aprikyan AA, Dale DC, et al. Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia. 2009;147(4):535-542.
| Published | 25-12-2024 | |
| Fulltext |
|
|
| Language |
|
|
| Issue | No. 92 (2023) | |
| Section | Case report | |
| DOI | 10.38103/jcmhch.92.8 | |
| Keywords | Neutropenia, severe congenital neutropenia, ELANE mutation. |
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
Copyright (c) 2023 Journal of Clinical Medicine Hue Central Hospital