Вопросы гематологии/онкологии и иммунопатологии в педиатрии. 2019; 18: 99-104
Гранулематозное воспаление в манифестации хронической гранулематозной болезни: клинический случай
https://doi.org/10.24287/1726-1708-2019-18-4-99-104Аннотация
Хроническая гранулематозная болезнь – первичный иммунодефицит, характеризующийся нарушением кислородозависимых механизмов фагоцитоза, так как при мутациях в генах, кодирующих белки НАДФН-оксидазного комплекса, происходит нарушение респираторного взрыва. Клинические проявления этой болезни – рецидивирующие бактериальные и грибковые инфекции, а также развитие гранулематозных осложнений вследствие дефекта аутофагии, сопровождающееся повышением уровня интерлейкина-1 в крови. Лечение данного заболевания заключается в постоянной профилактической противомикробной терапии, а также специфической терапии для лечения гранулематозных осложнений. При этом единственным радикальным методом лечения этого заболевания считается трансплантация гемопоэтических стволовых клеток от аллогенного родственного или неродственного донора. В статье представлен клинический случай манифестации Х-сцепленной формы хронической гранулематозной болезни с гранулематозных проявлений при отсутствии инфекционного анамнеза. Родители дали согласие на использование информациио ребенке в научных исследованиях и публикациях.
Список литературы
1. Janeway C.A., Craig J., Davidson M., Downey W., Gitlin D., Sullivan J.C. Hypergammaglobulinemia associated with severe, recurrent and chronic non-specific infection. Am J Dis Child 1954; 88: 388–92.
2. Bridges R.A., Berendes H., Good R.A. A fatal granulomatous disease of childhood; the clinical, pathological, and laboratory features of a new syndrome. AMA J Dis Child 1959; 97: 387–408.
3. Landing B.H., Shirkey H.S. A syndrome of recurrent infection and infiltration of viscera by pigmented lipid histiocytes. Pediatrics 1957; 20: 431–8.
4. Seger R.A. Chronic granulomatous disease: recent advances in pathophysiology and treatment. Neth J Med 2010; 68 (11): 334–40.
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16. Henrickson S.E., Jongco A.M., Thomsen K.F., Garabedian E.K, Thomsen I.P. Noninfectious Manifestations and Complications of Chronic Granulomatous Disease. J Pediatric Infect Dis Soc 2018; 7: S18–S24.
17. Kobayashi S., Murayama S., Takanashi S., Miyatsuka S., Fujita T., Ichinohe S., et al. Clinical features and prognoses of 23 patients with chronic granulomatous disease followed for 21 years by a single hospital in Japan. Eur J Pediatrics 2008; 167 (12): 1389–94.
18. Vinh D.C., Freeman A.F., Shea Y.R., Malech H.L., Abinun M., Weinberg G.A., Holland S.M. Mucormycosis in chronic granulomatous disease: association with iatrogenic immunosuppression. J Allergy Clin Immunol 2009; 123 (6): 1411–3.
19. Uzel G., Orange J.S., Poliak N., Marciano B.E., Heller T., Holland S.M. Complications of tumor necrosis factor- blockade in chronic granulomatous disease-related colitis. Clin Infect Dis 2010; 15; 51 (12): 1429–34.
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22. Kuhns D.B., Alvord W.G., Heller T., Feld J.J., Pike K.M., Marciano B.E., et al. Residual NADPH oxidase and survival in chronic granulomatous disease. N Engl J Med 2010; 363 (27): 2600–10.
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24. Meissner F., Seger R.A., Moshous D., Fischer A., Reichenbach J., Zychlinsky A. Inflammasome activation in NADPH oxidase defective mononuclear phagocytes from patients with chronic granulomatous disease Blood 2010; 116 (9): 1570–3.
25. de Luca A., Smeekens S.P., Casagrande A., Iannitti R., Conway K.L., Gresnigt M.S., et al. IL-1 receptor blockade restores autophagy and reduces inflammation in chronic granulomatous disease in mice and in humans. Proc Natl Acad Sci USA 2014; 111(9): 3526–31.
Pediatric Hematology/Oncology and Immunopathology. 2019; 18: 99-104
Granulomatous inflammation in the manifestation of chronic granulomatous disease: a clinical case report
https://doi.org/10.24287/1726-1708-2019-18-4-99-104Abstract
Chronic granulomatous disease is a primary immunodeficiency, characterized by a violation of the oxygen-dependent mechanisms of phagocytosis. Mutations in the genes encoding proteins of the NADPH-oxidase complex lead to a violation of the respiratory burst. Clinical manifestations are recurrent bacterial and fungal infections, and the development of granulomatous complications due to a defect in autophagy, accompanied by an increase in the level of interleukin-1 inthe blood. The treatment of this disease is continuous preventive antimicrobial therapy, and specific therapy for the treatment of granulomatous complications. Hematopoietic stem cell transplantation from an allogeneic or unrelated donor is currently considered to be only radical treatment for CGD. This article presents a clinical case of the manifestation of an X-linked form of chronic granulomatous disease with granulomatous manifestations in the absence of an infectious history. Parents patient agreed to use personal data in research and publications.
References
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2. Bridges R.A., Berendes H., Good R.A. A fatal granulomatous disease of childhood; the clinical, pathological, and laboratory features of a new syndrome. AMA J Dis Child 1959; 97: 387–408.
3. Landing B.H., Shirkey H.S. A syndrome of recurrent infection and infiltration of viscera by pigmented lipid histiocytes. Pediatrics 1957; 20: 431–8.
4. Seger R.A. Chronic granulomatous disease: recent advances in pathophysiology and treatment. Neth J Med 2010; 68 (11): 334–40.
5. Rider N.L., Jameson M.B., Creech C.B. Chronic granulomatous disease: epidemiology, pathophysiology, and genetic basis of disease. J Pediatric Infect Dis Soc 2018; 7: S2–S5.
6. Segal B.H., Leto T.L., Gallin J.I., Malech H.L., Holland S.M. Genetic, biochemical, and clinical features of chronic granulomatous disease. Medicine 2000; 79: 170–200.
7. Harrison R.E., Touret N., Grinstein S. Microbial killing: oxidants, proteases and ions. Curr Biol 2002; 12: 357–9.
8. Fang F.C. Antimicrobial reactive oxygen and nitrogen species: concepts and controversies. Nat Rev Microbiol 2004; 2: 820–32.
9. Meischl C., Roos D. The molecular basis of chronic granulomatous disease. Springer Semin Immunopathol. 1998; 19: 417–34.
10. Jennifer W.L., Steven M.H. Chronic granulomatous disease. Seattle (WA): University of Washington, Seattle; 1993–2019. Initial Posting: 09.082012; Last Update: 11.02.2016.
11. Segal A.W. The NADPH oxidase and chronic granulomatous disease. Mol Med Today 1996; 2 (3): 129–35.
12. Rieber N., Hector A., Kuijpers T., Roos D., Hartl D. Current concepts of hyperinflammation in chronic granulomatous disease. Clin Dev Immunol 2012; Article ID 252460. Published online 25.07.2011.
13. Allen R.C., Stjernholm R.L., Reed M.A., Harper T.B., Gupta S., Steele R.H., Waring W.W. Correlation of metabolic and chemiluminescent responses of granulocytres from three female siblings with chronic granulomatous disease. J Infect Dis 136: 510–8.
14. Emmendörffer A., Hecht M., LohmannMatthes M.L., Roesler J. A fast and easy method to determine the production of reactive oxygen intermediates by human and murine phagocytes using dihydrorhodamine 123. J Immunol Methods 1990; 131 (2): 269–75.
15. Slack M.A., Thomsen I.P. Prevention of infectious complications in patients with chronic granulomatous disease. J Pediatric Infect Dis Soc 2018; 7: S25–S30.
16. Henrickson S.E., Jongco A.M., Thomsen K.F., Garabedian E.K, Thomsen I.P. Noninfectious Manifestations and Complications of Chronic Granulomatous Disease. J Pediatric Infect Dis Soc 2018; 7: S18–S24.
17. Kobayashi S., Murayama S., Takanashi S., Miyatsuka S., Fujita T., Ichinohe S., et al. Clinical features and prognoses of 23 patients with chronic granulomatous disease followed for 21 years by a single hospital in Japan. Eur J Pediatrics 2008; 167 (12): 1389–94.
18. Vinh D.C., Freeman A.F., Shea Y.R., Malech H.L., Abinun M., Weinberg G.A., Holland S.M. Mucormycosis in chronic granulomatous disease: association with iatrogenic immunosuppression. J Allergy Clin Immunol 2009; 123 (6): 1411–3.
19. Uzel G., Orange J.S., Poliak N., Marciano B.E., Heller T., Holland S.M. Complications of tumor necrosis factor- blockade in chronic granulomatous disease-related colitis. Clin Infect Dis 2010; 15; 51 (12): 1429–34.
20. van de Veerdonk F.L., Dinarello C.A. Deficient autophagy unravels the ROS paradox in chronic granulomatous disease. Autophagy 2014; 10 (6): 1141–2.
21. Seger R.A. Hematopoietic stem cell transplantation for chronic granulomatous disease. Immunol Allergy Clin North Am 2010; 30 (2): 195–208.
22. Kuhns D.B., Alvord W.G., Heller T., Feld J.J., Pike K.M., Marciano B.E., et al. Residual NADPH oxidase and survival in chronic granulomatous disease. N Engl J Med 2010; 363 (27): 2600–10.
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24. Meissner F., Seger R.A., Moshous D., Fischer A., Reichenbach J., Zychlinsky A. Inflammasome activation in NADPH oxidase defective mononuclear phagocytes from patients with chronic granulomatous disease Blood 2010; 116 (9): 1570–3.
25. de Luca A., Smeekens S.P., Casagrande A., Iannitti R., Conway K.L., Gresnigt M.S., et al. IL-1 receptor blockade restores autophagy and reduces inflammation in chronic granulomatous disease in mice and in humans. Proc Natl Acad Sci USA 2014; 111(9): 3526–31.
