Википедија

Hronična granulomatozna bolest

Hronična granulomatozna bolest (akronim HGB) je genetički predisponirana bolest koju karakteriše nesposobnost fagocitnih ćelija da stvaraju hidrogen peroksid i druge oksidante potrebne za uništavanje mikroorganizama, a nastaje kao posledica defekta redukovane forme kompleksa enzima oksidaze, nikotinamid adenin dinukleotid fosfata (NADPH).[1][2][3][4][5]

Hronična granulomatozna bolest
SinonimiQuie syndrome
Superoksid

Istorija

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Mikroskopska slika gljive, Aspergilus fumigatus, mikrorganizma koji obično izaziva bolest kod ljudi sa hroničnom granulomatoznom bolešću.

Hronična granulomatozna bolest je prvi put opisana 1950. godine, kao sindrom koji karakteriše prisustvo ponovljenih infekcija, hepatosplenomegalije, hipergamaglobulinemije i limfadenopatije, češća kod muškaraca, sa lošom prognozom i letalnim ishodom u prvoj deceniji života.

Razvoj nauke i tehnologije do danas, omogućio je bolje razumevanje mehanizama bolesti.

Epidemiologija

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Tačna incidencija hronične granulomatozne bolesti je nepoznata, mada podaci iz nacionalnih registara u Americi pokazuju da je njena učestalost 1 : 200.000 — 250.000.[1][6][7]

Etiopatogeneza

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Približno 80% pacijenata nasleđuje bolest preko polnog X hromozoma, dok 20% bolest nasleđuje autozomnim hromozomima.[8][9][10][11][12][13][14][15]

Klinička slika

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Karakteristika bolesti je rani početak i česta pojava bakterijskih i gljivičnih infekcija.[16] Kod preko 75% pacijenata bolest se manifestuje u prvih 5 godina života.[17][18]

Iako se bolest najčešće ispoljava infekcijama u ranom detinjstvu, nekoliko zabeleženih slučajeva govori o kasnoj ekspresiji. Bolest ostaje često nedijagnostikovana kod nekih osoba jer imaju blažu kliničku formu.[19][20]

Dijagnoza

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Sposobnost oksidativnog metabolizma fagocita može se ispitati:[21][22]

  • metodom redukcije boje NBT
  • formazanskim testom,
  • fluocitometrijskom analizom,
  • testovima mikrobicidne aktivnosti,
  • genetičkim testovima.[23]

Terapija.[24][25][26]

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Antibiotska terapija

Adekvatna antibiotska terapija mora biti primenjena u skladu sa najčešćim uzročnikom infekcija (kotrimoksazol)

Interferon

Interferon gama, kao regulator imunskog odgovora deluje preko makrofaga i citotoksičnih T limfocita.

Transplantacija stem ćelija

Transplantacija stem ćelija je za sada terapija u fazi istraživanja.[27]

Izvori

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  1. ^ a b van den Berg JM, van Koppen E, Ahlin A, et al. Chronic granulomatous disease: the European experience. PLoS One 2009;4:e5234
  2. ^ Roos D, de Boer M. Molecular diagnosis of chronic granulomatous disease. Clin Exp Immunol. 2014. 175(2):139-49. [Medline]. [Full Text].
  3. ^ Babiker A, Gupta N, Gibas CFC, Wiederhold NP, Sanders C, Mele J, et al. Rasamsonia sp: An emerging infection amongst chronic granulomatous disease patients. A case of disseminated infection by a putatively novel Rasamsonia argillacea species complex involving the heart. Med Mycol Case Rep. 2019 Jun. 24:54-57. [Medline].
  4. ^ Segal BH, Romani L, Puccetti P. Chronic granulomatous disease. Cell Mol Life Sci. 2009 Feb. 66(4):553-8. [Medline].
  5. ^ Hauck F, Heine S, Beier R, Wieczorek K, Müller D, Hahn G. Chronic granulomatous disease (CGD) mimicking neoplasms: a suspected mediastinal teratoma unmasking as thymic granulomas due to X-linked CGD, and 2 related cases. J Pediatr Hematol Oncol. 2008 Dec. 30(12):877-80. [Medline].
  6. ^ Arnold DE, Heimall JR. A Review of Chronic Granulomatous Disease. Adv Ther. 2017 Dec. 34 (12):2543-2557. [Medline].
  7. ^ Oh HB, Park JS, Lee W, Yoo SJ, Yang JH, Oh SY. Molecular analysis of X-linked chronic granulomatous disease in five unrelated Korean patients. J Korean Med Sci. 2004 Apr. 19(2):218-22. [Medline].
  8. ^ Rae J, Noack D, Heyworth PG, Ellis BA, Curnutte JT, Cross AR. Molecular analysis of 9 new families with chronic granulomatous disease caused by mutations in CYBA, the gene encoding p22(phox). Blood. 2000 Aug 1. 96(3):1106-12. [Medline].
  9. ^ Jurkowska M, Bernatowska E, Bal J. Genetic and biochemical background of chronic granulomatous disease. Arch Immunol Ther Exp (Warsz). 2004 Mar-Apr. 52(2):113-20. [Medline].
  10. ^ Jurkowska M, Kurenko-Deptuch M, Bal J, Roos D. The search for a genetic defect in Polish patients with chronic granulomatous disease. Arch Immunol Ther Exp (Warsz). 2004 Nov-Dec. 52(6):441-6. [Medline].
  11. ^ Stasia MJ, Bordigoni P, Floret D, et al. Characterization of six novel mutations in the CYBB gene leading to different sub-types of X-linked chronic granulomatous disease. Hum Genet. 2005 Jan. 116(1-2):72-82. [Medline].
  12. ^ Noack D, Rae J, Cross AR, et al. Autosomal recessive chronic granulomatous disease caused by defects in NCF-1, the gene encoding the phagocyte p47-phox: mutations not arising in the NCF-1 pseudogenes. Blood. 2001 Jan 1. 97(1):305-11. [Medline].
  13. ^ Segal BH, Leto TL, Gallin JI, Malech HL, Holland SM. Genetic, biochemical, and clinical features of chronic granulomatous disease. Medicine (Baltimore). May 2000. 79(3):170-200.
  14. ^ Johnston RB Jr. Clinical aspects of chronic granulomatous disease. Curr Opin Hematol. 2001 Jan. 8(1):17-22. [Medline].
  15. ^ Bylund J, Campsall PA, Ma RC, Conway BA, Speert DP. Burkholderia cenocepacia induces neutrophil necrosis in chronic granulomatous disease. J Immunol. 2005 Mar 15. 174(6):3562-9. [Medline].
  16. ^ Marciano BE, Spalding C, Fitzgerald A, Mann D, Brown T, Osgood S, et al. Common severe infections in chronic granulomatous disease. Clin Infect Dis. 2015. 60(8):1176-83. [Medline]. [Full Text].
  17. ^ Kuhns DB, Alvord WG, Heller T, et al. Residual NADPH oxidase and survival in chronic granulomatous disease. N Engl J Med. 2010 Dec 30. 363(27):2600-10. [Medline].
  18. ^ Chowdhury MM, Anstey A, Matthews CN. The dermatosis of chronic granulomatous disease. Clin Exp Dermatol. 2000 May. 25(3):190-4. [Medline].
  19. ^ Jones LB, McGrogan P, Flood TJ, et al. Special article: chronic granulomatous disease in the United Kingdom and Ireland: a comprehensive national patientbased registry. Clin Exp Immunol 2008; 152:211-8.
  20. ^ Sarwar G, de Malmanche T, Rassam L, Grainge C, Williams A, Arnold D. Chronic granulomatous disease presenting as refractory pneumonia in late adulthood. Respirol Case Rep. 2015. 3(2):54-6. [Medline]. [Full Text].
  21. ^ Carnide EG, Jacob CA, Castro AM, Pastorino AC. Clinical and laboratory aspects of chronic granulomatous disease in description of eighteen patients. Pediatr Allergy Immunol. 2005 Feb. 16(1):5-9. [Medline].
  22. ^ Kuhns DB. Diagnostic Testing for Chronic Granulomatous Disease. Methods Mol Biol. 2019. 1982:543-571.
  23. ^ Ochs HD, Igo RP. The NBT slide test: a simple screening method for detecting chronic granulomatous disease and female carriers. J Pediatr 1973; 83:77-82.
  24. ^ Chiriaco M, Salfa I, Di Matteo G, Rossi P, Finocchi A. Chronic granulomatous disease: Clinical, molecular, and therapeutic aspects. Pediatr Allergy Immunol. 2016 May. 27 (3):242-53. [Medline].
  25. ^ Gallin JI, Alling DW, Malech HL, et al. Itraconazole to prevent fungal infections in chronic granulomatous disease. N Engl J Med. 2003 Jun 12. 348(24):2416-22.
  26. ^ Wang J, Mayer L, Cunningham-Rundles C. Use of GM-CSF in the treatment of colitis associated with chronic granulomatous disease. J Allergy Clin Immunol. 2005 May. 115(5):1092-4. [Medline].
  27. ^ Walsh TJ, Anaissie EJ, Denning DW, et al. Treatment of aspergillosis: clinical practice guidelines of the Infectious Diseases Society of America. Clin Infect Dis 2008; 46:327-60.

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