Abstract
Ağır konjenital nötropeni (AKN) yaşamın ilk haftalarında ortaya çıkan ve bebeklik döneminden itibaren yaşamı tehdit eden bakteriyel enfeksiyonlar ile karakterize, mutlak nötrofil sayısının(MNS) <500 mm3 olduğu primer immün yetmezlik hastalığıdır. Otozomal dominant, otozomal resesif, X’e bağlı resesif kalıtım gösterir ancak sporadik mutasyonlar da olabilmektedir. AKN görülme insidansı yaklaşık 1-2/1.000.000’dir. Kemik iliğinde promiyelosit/miyelosit evresinde matürasyonda duraklama tipik bulgudur. Elane, Hax1, WAS, G6PC3, GF11, JAGN1, CSF3R gibi genlerdeki mutasyonlar hastalığa neden olur. AKN’nin prototipi Kostmann Sendromu’dur (AKN tip 3).
Keywords
References
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Abstract
References
- 1. Donadieu J, Fenneteau O, Beaupain B, Mahlaoui N, Chantelot CB. Congenital neutropenia: Diagnosis, molecular bases and patient management. Orphanet J Rare Dis 2011;6:26.
- 2. Hauck F, Klein C. Pathogenic mechanisms and clinical implications of congenital neutropenia syndromes. Curr Opin Allergy Clin Immunol 2013; 13: 596-606.
- 3. Özbek N. Konjenital nötropenilere genetik bakış. TJH 2009; 26: 1-8.
- 4. Zeidler C, Germeshausen M, Klein C, Welte K. Clinical implications of ELA2-, HAX1-, and G-CSF-receptor (CSF3R) mutations in severe congenital neutropenia. Br J Haematol 2009;144:459-67.
- 5. Kostmann R. İnfantile genetic agranulocytosis. Acta Pediatr Scand 1956; 45:1-78.
- 6. Germeshausen M, Grudzien M, Zeidler C, Abdollahpour H, Yetgin S, Rezaei N, et al. Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotypephenotype associations. Blood 2008; 111:4954–7.
- 7. Karaca NE, Aksu G, Gülez N, Azarsız E, Kavaklı K, Klein C, et al. Clinical, Laboratory and Molecular Approach to Ten Children with Congenital Neutropenia. J Pediat Res 2016;3:7-12.
- 8. Carlsson G, van’t Hooft I, Melin M, Entesarian M, Laurencikas E, Nennesmo I, et al. Central nervous system involvement in severe congenital neutropenia: Neurological and neuropsychological abnormalities associated with specific HAX1 mutations. J Intern Med 2008; 264:388–400.
- 9. Dale DC, Bolyard AA, Schwinzer BG, Pracht G, Bonilla MA, Boxer L, et al. The severe chronic neutropenia international registry: 10- year follow-up report. Support Cancer Ther 2006;3:220-31.
- 10. Cottle TE, Fier CJ, Donadieu J, Kinsey SE. Risk and benefit of treatment of severe chronic neutropenia with granulocyte colony stimulating factor. Semin Hematol 2002; 39:134-40.
- 11. Rosenberg PS, Zeidler C, Bolyard AA, et al. Stable long term risk of leukaemia in patients with severe congenital neutropenia maintained on G-CSF therapy. Br J Haematol 2010; 150: 196-9.
- 12. James A Connelly 1, Sung W Choi, John E Levine. Hematopoietic stem cell transplantation for severe congenital neutropenia. Curr Opin Hematol. 2012 Jan;19(1):44-51.
Details
| Primary Language | Turkish |
|---|---|
| Subjects | Health Care Administration |
| Journal Section | Konuşmacı Metinleri |
| Authors | |
| Publication Date | June 30, 2022 |
| Submission Date | March 25, 2022 |
| Acceptance Date | March 25, 2022 |
| Published in Issue | Year 2022 Volume: 15 Issue: (Özel Sayı-1) 21. Mersin Pediatri Günleri Bildiri Kitabı |
Cite
MEU Journal of Health Sciences Assoc was began to the publishing process in 2008 under the supervision of Assoc. Prof. Gönül Aslan, Editor-in-Chief, and affiliated to Mersin University Institute of Health Sciences. In March 2015, Prof. Dr. Caferi Tayyar Şaşmaz undertook the Editor-in Chief position and since then he has been in charge.
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