Hereditary angioedema - how to make a diagnosis? Helping the pediatrician


如何引用文章

全文:

开放存取 开放存取
受限制的访问 ##reader.subscriptionAccessGranted##
受限制的访问 订阅或者付费存取

详细

Hereditary angioedema is a rare condition that usually manifests with recurrent episodes of potentially life-threatening angioedema during childhood or adolescence. Early diagnosis and optimal treatment of this disease is very important in order to avoid ineffective methods of treatment and to prescribe adequate therapy, thereby improving the quality of life of patients. This article discusses some of the features of the course of this disease in childhood and adolescence.

全文:

受限制的访问

作者简介

Olga Bodnya

Russian Medical Academy of Continuous Professional Education

Email: os.bodnya@yandex.ru
Cand. Sci. (Med.), Associate Professor at the Department of Allergology and Immunology Moscow, Russia

参考

  1. Farkas H., Martinez-Saguer I., Bork K., et al.International consensus on the diagnosis and manage-ment of pediatric patients with hereditary angioedema with Clinhibitor deficiency. Allergy. 2017;72(2):3 00-13. Doi: 10.1111/ all.13001.
  2. Бодня О.С. Наследственный ангиоотек - что мы знаем об этом заболевании? Терапия. 2020;2:100-6.
  3. Пампура А.Н., Плавунов Н.Ф., Бодня О.С. и др. Наследственный ангиоотек: от диагноза к оптимальной терапии. Учебно-методические рекомендации. М., 2019.
  4. Maurer M., Magerl M., Betschel S., et al. The international WAO/EAACI guideline for the management of hereditary angioedema-The 2021 revision and update. Allergy.2022;00:1-30. doi: 10.1111/all.15214.
  5. Ponard D., Gaboriaud C., Charignon D., et al. SERPING1 mutation update: mutation spectrum and C1 inhibitor phenotypes. Hum Mutat. 2020;41:38-57. doi: 10.1002/humu.23917.
  6. Bork K., Barnstedt S.E., Koch P., Traupe H. Hereditary angioedema with normal C1-inhibitor activity in women. Lancet. 2000;356(9225):213-17. Doi: 10.1016/ S0140-6736(00)02483-1.
  7. Dewald G., Bork K. Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor. Biochem Biophys Res Comm. 2006;343(4):1286-89. Doi: 10.1016/]. bbrc.2006.03.092.
  8. Bafunno V, Firinu D., D'Apolito M., et al. Mutation of the angiopoietin-1 gene (ANGPT1) associates with a new type of hereditary angioedema. J Allergy Clin Immun. 2018;141(3):1009-17. doi: 10.1016/].]aci.2017.05.020.
  9. Bork K., Wulff K., Rossmann H., et al. Hereditary angioedema cosegregating with a novel kininogen 1 gene mutation changing the Nterminal cleavage site of bradykinin. Allergy. 2019;74(12):2479-81. doi: 10.1111/all.13869.
  10. Ariano A., D'Apolito M., Bova M., et al. A myoferlin gain - of- function varian t associates with a new type of hereditary angioedema. Allergy. 2020;75(11):2989-92. Doi: 10.1111/ all.14454.
  11. Bork K., Wulff K., Mohl B.S., et al. Novel hereditary angioedema linked with a heparan sulfate 3-O-sulfotransferase 6 gene mutation. J Allergy Clin Immunol. 2021;148(4):1041-48. doi: 10.1016/].]aci.2021.01.011.
  12. Bork K., Wulff K., Witzke G., Hardt J. Treatment for hereditary angioedema with normal C1-INH and specific mutations in the F12 gene (HAE-FXII). Allergy. 2017;72(2):320-24. doi: 10.1111/all.13076.
  13. Bork K., Wulff K., Witzke G., et al. Treatment of patients with hereditary angioedema with the c.988A>G (p.Lys330Glu) variant in the plasminogen gene. Orphanet J Rare Dis. 2020;15(1):52. doi: 10.1186/s13023-020-1334-8.
  14. Zuraw B.L., Bork K., Binkley K.E., et al. Hereditary angioedema with normal C1inhibitor function: consensus of an international expert panel. Allergy Asthma Proc. 2012;33:S145-56. doi: 10.2500/aap.2012.33.3627.
  15. Bork K., Barnstedt S.E. Laryngeal edema and death from asphyxiation after tooth extraction in four patients with hereditary angioedema. J Am Dent Assoc. 2003;134(8):1088-94. doi: 10.14219/]ada.archive.2003.0323
  16. Belbézier A., Bocquet A., Bouillet L. Idiopathic angioedema: cur-rent challenges. J Asthma Allergy. 2020;13:137-44. doi: 10.2147/JAA. S205709.
  17. Martinez-Saguer I., Graff J., Rusicke E., et al. Does early clinical manifestation of hereditary angioedema (HAE) influence the clinical course of the disease? J Allergy Clin Immun. 2013;131(2):AB30.
  18. Campos R.A., et al. Hereditary angioedema: a disease seldom diagnosed by pediatricians. J Pediatr. 2021;97:S10-6. Doi: 10.1016/]. ]ped.2020.10.011.
  19. Christiansen S.C., Davis D.K., Castaldo A.J., Zuraw B.L. Pediatric hereditary angioedema: onset, diagnostic delay, and disease severity. Clin Pediatr. (Phila). 2016;55(10):935-42. doi: 10.1177/0009922815616886.
  20. Aabom A., Andersen K.E., Fagerberg C., et al. Clinical characteristics and real-life diagnostic approaches in all Danish children with hereditary angioedema. Orphanet J Rare Dis. 2017;12:55. doi: 10.1186/s13023-017-0604-6.
  21. Magerl M., Doumoulakis G., Kalkounou I., et al. Characterization of prodromal symptoms in alarge population of patients with hereditary angio-oedema. Clin Exp Dermatol. 2014;39:298-303. doi: 10.1111/ced.12285.
  22. Busse P.J., Christiansen S.C. Hereditary angio-edema. N EnglJ. Med. 2020;382:1136-48. doi: 10.1056/NEJMra1808012.
  23. Wahn V., Aberer W., Aygören-Pürsün E., et al. Hereditary angioedema in children and adolescents - a consensus update on therapeutic strategies for German-speaking countries. Pediatr Allergy Immunol. 2020;31:974-89. doi: 10.1111/pai.13309.
  24. Martinez-Saguer I., Rusicke E., Aygoren-Pursun E., et al. Characterization of acute hereditary angioedema attacks during pregnancy and breast-feeding and their treatment with C1 inhibitor concentrate. Am J Obstet Gynecol. 2010;203(2):e131-37. Doi: 10.1016/]. a]og.2010.03.003.
  25. Riedl M.A., Maurer M., Bernstein J.A., et al. Lanadelumab demonstrates rapid and sus-tained prevention of hereditary angioedema attacks. Allergy. 2020;75:2879-87. Doi: 10.1111/ all.14416.
  26. Levy D., Caballero T., Hussain I., et al. Long-term efficacy of subcutaneous C1 inhibitor inpediatric patients with hereditary angioedema. Pediatr Allergy Immunol Pulmonol. 2020;33:136-41. doi: 10.1089/ped.2020.1143.

补充文件

附件文件
动作
1. JATS XML

版权所有 © Bionika Media, 2022
##common.cookie##