Affiliation:
1. Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
Abstract
Hereditary angioedema (HAE) is a disease characterized by edema of various localizations. Though classified as primary immunodeficiencz the disease lacks manifestations characteristic for primary/secondary immunodeficiencies. Medulloblastoma is one of the most frequent central nervous system tumors in children. The presence of a hereditary orphan disease (HAE) does not contradict the development of oncological process of any localization. The combination of two different diseases in a particular patient requires special approaches to the treatment of each of them. In this article we describe a clinical case of medulloblastoma in a patient with HAE. We also describe our approach to preventive therapy in a patient with a genetically confirmed HAE with C1 inhibitor deficiency before the manifestation of clinical symptoms which was implemented in order to apply program complex therapy of medulloblastoma in his entirety, including surgical procedures and radiation therapy, under general anesthesia. The patient’s parents gave consent to the use of their child's data, including photographs, for research purposes and in publications.
Publisher
Fund Doctors, Innovations, Science for Children
Subject
Oncology,Hematology,Immunology,Immunology and Allergy,Pediatrics, Perinatology and Child Health
Reference34 articles.
1. Kaplan A.P. Bradykinin and the pathogenesis of hereditary angioedema. World Allergy Organ J 2011; 4 (4): 73–5.
2. Cicardi M., Aberer W., Banerji A., Bas M., Bernstein J.A., Bork K., et al. Classification, diagnosis, and approach to treatment for angioedema: consensus report from the Hereditary Angioedema International Working Group. Allergy 2014; 69 (5): 602–16.
3. Germenis A.E., Speletas M. Genetics of Hereditary Angioedema Revisited. Clin Rev Allergy Immunol 2016; 51 (2): 170–82.
4. Kuz'menko N.B., Viktorova E.A., Pavlova A.V., Kurnikova M.A., Laberko A.L., Raikina E.V., Shcherbina A.Yu. Kharakteristika molekulyarno-geneticheskikh defektov i klinicheskikh osobennostei v gruppe patsientov s nasledstvennym angionevroticheskim otekom 1-go i 2-go tipov. Voprosy gematologii/onkologii i immunologii 2017; 16 (4): 35–42.
5. Agostoni A., Aygören-Pürsün E., Binkley K.E., Blanch A., Bork K., Bouillet L., et al. Hereditary and acquired angioedema: problems and progress: proceedings of the third C1 esterase inhibitor deficiency workshop and beyond. J Allergy Clin Immunol 2004; 114 (3 Suppl): S51– 131.