Preview

CHILDREN INFECTIONS

Advanced search

Clinical observation of Сhronic granulomatous disease in a 6-year-old child

https://doi.org/10.22627/2072-8107-2020-19-4-69-72

Abstract

Chronic granulomatous disease (CGD) is a hereditary disease caused by a genetic defect of violations of oxygen — dependent mechanisms of phagocytosis.
Clinical manifestations of the disease are recurrent bacterial or fungal infections of the skin, hepatic abscesses, pneumonia, osteomyelitis, sepsis, meningitis et al. Most available laboratory method for the diagnosis of CGD is the test of histochemical nitro blue tetrazolium recovery (NBT-test). Allogeneic hematopoietic stem cell transplantation is considered a radical treatment for chronic granulomatous disease.
The article presents a clinical observation of the manifestation of chronic granulomatous disease with an unfavorable outcome in a child aged 6 years.

About the Authors

G. A. Kharchenko
Astrakhan state medical University the Ministry of health Russian Federation
Russian Federation

Gennady Kharchenko, MD, рrofessor, head of the вepartment of children's infections

Astrakhan



O. G. Kimirilova
Astrakhan state medical University the Ministry of health Russian Federation
Russian Federation

Olga Kimirilova, PhD, the department of children's infections

Astrakhan



References

1. Серебрякова Е.Н., Волосников Д.К., Пищальников А.Ю., Шилова Т.В. Хроническая гранулематозная болезнь: обзор литературы и описание клинических случаев хронической гранулематозной болезни у детей Челябинской области. Трудный пациент. 2016; 16(2—3):46—50. [Serebryakova E.N., Volosnikov D.K., Pishchalniсov A.Y., Shilova T.V. Chronic granulomatous disease: literature review and description of clinical cases of chronic granulomatous disease in children of the Chelyabinsk region. Trudnyj Рacient. 2016; 16(2—3):46—50. (in Russ.).]

2. Юхачева Д.В., Першин Д.Е., Ускова Н.Г., Терещенко Г.В., Кузьменко Н.Б. Гранулематозное воспаление в манифестации хронической гранулематозной болезни: клинический случай. Вопросы гематологии, онкологии и иммунологии в педиатрии. 2019; 18(4):99—104. [Yukhatcheva D.V., Pershin D.E., Uskovа N.G., Tereschenko V.G., Kuzmenko N.B. Granulomatous inflammation in the manifestation of chronic granulomatous disease: a clinical case. Voprosy Gematologii, Onkologii i Immunologii v Pediatrii. 2019; 18(4):99—104. (in Russ.).]

3. Meissner F., Seger R.A., Moshous D., Fischer A., Reichenbach J., Zychlinsky A. Inflammasome activationin NADPH oxidasedefective mononuclear phagocytes from patients with chronic granulomatous disease. Blood. 2010; 116(9):1570—1573.

4. 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: 2—5.

5. Matute D. A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40phox and selective defects in neutrophil НАДФ oxidase activity. Blood. 2009; 114(15):3309—3316.

6. 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.

7. Marciano B.E. Common severe infections in chronic granulomatous disease. Clin. Infect. Dis. 2015; 60(8):1176—1183.

8. 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.

9. Slack M.A., Thomsen I.P. Prevention of infectious complications in patients with chronic granulomatous disease. J. Pediatric Infect Dis. Soc. 2018; 7:25—30.

10. Seger R.A. Modern management of chronic granulomatous disease. Br. J. Haematol. 2008; 140(3):255—266.

11. Greenberg D.E. Recurrent granulibacter be the sdensis infections and chronic granulomatous disease. Emerg. Infect. Dis. 2010; 16(9):1341—1348.

12. Мухина А.А., Кузьменко Н.Б., Родина Ю.А., Кондратенко И.В., Бологов А.А., Латышева Т.В. Характеристика пациентов с первичными иммунодефицитными состояниями в Российской Федерации: от рождения до старости. Педиатрия. 2019; 98(3):24— 31. [Mukhina A.A., Kuzmenko N.B., Rodina Y.А., Kondratenko I.V., Bologov A.A., Latysheva T.V. Characteristics of patients with primary immunodeficiency conditions in the Russian Federation: from birth to old age. Pediatriya. 2019; 98(3): 24—31. (in Russ.).]

13. Fang F.C. Antimicrobial reactive oxygen and nitrogen species: concepts and controversies. Nat Rev Microbiol. 2004; 2:820—32.

14. Van de Veerdonk F.L., Dinarello C.A. Deficient autophagy unravels the ROS paradox in chronic granulomatous disease. Autophagy. 2014; 10(6):1141—2.

15. Seger R.A. Chronic granulomatous disease: recent advances in pathophysiology and treatment. Neth J Med. 2010; 68(11):334— 40.

16. Seger R.A. Hematopoietic stem cell transplantation for chronic granulomatous disease. Immunol. Allergy Clin. North Am. 2010; 30(2):195—208.

17. 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. ProcNatlAcadSci USA. 2014; 111(9): 3526—31.


Review

For citations:


Kharchenko G.A., Kimirilova O.G. Clinical observation of Сhronic granulomatous disease in a 6-year-old child. CHILDREN INFECTIONS. 2020;19(4):69-72. (In Russ.) https://doi.org/10.22627/2072-8107-2020-19-4-69-72

Views: 1034


Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 License.


ISSN 2072-8107 (Print)
ISSN 2618-8139 (Online)