A Case of Recurrent Granulomatous Disease

Yıl 2021, Cilt: 7 Sayı: 2, 296 - 300, 31.08.2021

Emine Serap Yılmaz

https://doi.org/10.19127/mbsjohs.936171

Öz

Chronic granulomatous disease (CGD) is an extremely rare genetically heterogeneous disorder characterized by serious life-threatening infections. CGD is caused by a defect of the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase system. The disease is characterized by increased inflammation and granuloma formation secondary to recurrent infections. CGD typically involves the lungs, liver, and lymph nodes. Most patients with CGD are diagnosed in childhood. In this case report, we aimed to present a patient with recurrent granulomatous diseases who could not be diagnosed despite reaching adulthood. A nineteen-year-old male patient who was previously diagnosed with granulomatous inflammation and lymphadenopathy and had consanguineous parents was examined for persistent fever and cough and diagnosed with chronic granulomatous disease. This case is presented to show that in countries where consanguineous marriage is common, this genetic disorder can also be diagnosed in adulthood.

Anahtar Kelimeler

Fever, Genetic Disorders, Granuloma, Lymphadenopathy, Pneumonia

Kaynakça

• 1. Stasia MJ, Li XJ. Genetics and immunopathology of chronic granulomatous disease. Semin Immunopathol 2008;30:209-235. Doi: 10.1007/s00281-008-0121-8.
• 2. Lacerda-Pontes R, Gomes LN, de Albuquerque RS, et al. The extended understanding of chronic granulomatous disease. Current opinion in pediatrics 2019; 31(6): 869-873. Doi: 10.1097/MOP.0000000000000830
• 3. Leiding JW, Holland SM. Chronic granulomatous disease. Stiehm's Immune Deficiencies 2020: 829-847. Doi: 10.1016/B978-0-12-816768-7.00037-5.
• 4. Arnold DE, Heimall JR. A review of chronic granulomatous disease. Advances in therapy 2017;34(12):2543-2557. Doi: 10.1007/s12325-017-0636-2.
• 5. Winkelstein JA, Marino MC, Johnston RB Jr, et al. Chronic granulomatous disease. Report on a national registry of 368 patients. Medicine 2000;79(3):155-169. Doi: 10.1097/00005792-200005000-00003.
• 6. Roos D, Kuijpers TW, Curnette JT. Chronic granulamatous disease. In: Ochs HD, Smith CIE, Puck JM, editors. Primary immunodefiency diseases. A molecular and genetic approach. 2th ed. New York: Oxford University Press; 2007. p. 527-549.
• 7. Heydari A, Abolnezhadian F, Sadeghi‐Shabestari M, et al. Identification of Cytochrome b‐245, beta‐chain gene mutations, and clinical presentations in Iranian patients with X‐linked chronic granulomatous disease. Journal of Clinical Laboratory Analysis 2021; 35(2): e23637. Doi: 10.1002/jcla.23637.
• 8. Roos, D. Chronic granulomatous disease. British medical bulletin 2016;118(1):50. Doi: 10.1093/bmb/ldw009.
• 9. Marciano BE, Spalding C, Fitzgerald A, et al. Common Severe Infections in Chronic Granulomatous Disease. Clin Infect Dis. 2015;60(8):1176-1183.
• 10. Dorman SE, Guide SV, Conville PS, et al. Nocardia infection in chronic granulomatous disease. Clin Infect Dis 2002;35:390-394. Doi:10.1086/341416.
• 11. Ameratunga R, Woon ST, Vyas J, et al. Fulminant mulch pneumonitis in undiagnosed chronic granulomatous disease: a medical emergency. Clinical pediatrics 2010;49(12):1143-1146. Doi: 10.1177/0009922810370057
• 12. De Ravin SS, Naumann N, Cowen EW, et al. Chronic granulomatous disease as a risk factor for autoimmune disease. J Allergy Clin Immunol 2008;122:1097-1103. Doi: 10.1016/j.jaci.2008.07.050.
• 13. Kang EM, Marciano BE, DeRavin S, et al. Chronic granulomatous disease: overview and hematopoietic stem cell transplantation. J Allergy Clin Immunol 2011;127:1319-1326 Doi: 10.1016/j. jaci.2011.03.028.
• 14. Margolis DM, Melnick DA, Alling DW, et al. Trimethoprimsulfamethoxazole prophylaxis in the management of chronic granulomatous disease. J Infect Dis 1990;162:723-726. Doi: 10.1093/infdis/162.3.723.
• 15. Seger RA. Chronic granulomatous disease: recent advances in pathophysiology and treatment. Neth J Med 2010;68(11):334-340.
• 16. Lee PP, Chan KW, Jiang L, et al. Susceptibility to mycobacterial infections in children with X-linked chronic granulomatous disease: a review of 17 patients living in a region endemic for tuberculosis. Pediatr Infect Dis J 2008;27:224-230. Doi: 10.1097/INF.0b013e31815b494c.
• 17. Seger RA. Hematopoietic stem cell transplantation for chronic granulomatous disease. Immunol Allergy Clin North Am 2010;30(2):195–208. Doi: 10.1016/j.iac.2010.01.003