ÖZET

Kronik granülomatöz hastalık 1/70.000-1/200.000 doğumda görülen nadir bir primer immün yetmezliktir. Nikotinamidadenin-dinükleotit-fosfat oksidaz enzim kompleksindeki kusurların neden olduğu monogenetik bir hastalıktır. Nikotinamid adenin dinükleotid fosfat (NADPH) oksidaz, fagosite edilmiş mikroorganizmaların parçalanması için gerekli reaktif bileşikleri üretir. NADPH oksidaz enzim kompleksindeki kusurlar, granülom oluşumuna ve yaşamı tehdit eden tekrarlayan bakteriyel ve mantar enfeksiyonlarının gelişmesine zemin hazırlar. Enfeksiyonlar genellikle akciğer, lenf bezleri, karaciğer, kemik ve deri tutulumu ile ortaya çıkar. Nadiren daktilite de neden olabilir. Sol el üçüncü parmağında daktilit ve el bileğinde apse ile başvuran kronik granülomatöz hastalık olgusunu sunuyoruz. Ampirik tedaviye yanıt alınamaması üzerine tarafımıza sevk edildi. Boşaltılan apsede Serratia marcescens saptandı. Yara kültüründe etken olarak nadiren gördüğümüz Serratia marcescens’in saptanması, biyopside granülomatöz enflamasyon saptanması ve NBT testinin %0 olarak saptanması üzerine hastaya kronik granülomatöz hastalık tanısı kondu. On dört gün süreyle verilen seftriakson gentamisin tedavisi sonrasında lezyonda belirgin gerileme gözlendi. Tekrarlayan ve/veya alışılmadık derecede şiddetli enfeksiyonlar, özellikle apseler ve genellikle CGD ile ilişkili patojenlerin neden olduğu enfeksiyonlar, kronik granülomatöz hastalığı düşündürmelidir. Potansiyel olarak etkilenen çocukların erken taranması; erken tanı ve zamanında antimikrobiyal tedavi ve ardından yeterli antimikrobiyal profilaksi, enfeksiyöz relapsları ve sekelleri önleyecektir.

References

Wolach B, Gavrieli R, de Boer M, van Leeuwen K, Berger-Achituv S, Stauber T, et al. Chronic granulomatous disease: Clinical, functional, molecular, and genetic studies. The Israeli experience with 84 patients. Am J Hematol 2017;92(1):28-36.

Suliaman F, Amra N, Sheikh S, Almuhsen S, Alsmadi O. Epidemiology of chronic granulomatous disease of childhood in Eastern Province, Saudi Arabia. Pediatric Asthma, Allergy & Immunology 2009;22(1):21-26.

Winkelstein JA, Marino MC, Johnston RB Jr, Boyle J, Curnutte J, Gallin JI, et al. Chronic granulamatous disease.Report on a national registry of 368 patients. Medicine (Baltimore) 2000;79(3):155-169.

Jones LB, McGrogan P, Flood TJ, Gennery AR, Morton L, Thrasher A, et al. Special article:chronic-granulomatous-disease in the United Kingdom and Irealand:a comprehensive national patient-based registry. Clin Exp Immunol 2008;152(2):211-218.

Kobayashi S, Murayama S, Takanashi S, Takahashi K, Miyatsuka S, Fujita T, 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 Pediatr 2008;167(12):1389-1294.

Martire B, Rondelli R, Soresina A, Pignata C, Broccoletti T, Finocchi A, et al. Clinical features, long-term follow-up and outcome of a large cohort of patients with Chronic Granulomatous Disease: an Italian multicenter study. Clin Immunol 2008;126(2):155-164.

Soler-Palacín P, Margareto C, Llobet P, Asensio O, Hernández M, Caragol I, et al. Chronic granulomatous disease in pediatric patients: 25 years of experience. Allergol Immunopathol (Madr) 2007;35(3):83-89.

Marciano BE, Rosenzweig SD, Kleiner DE, Anderson VL, Darnell DN, Anaya-O’Brien S, et al. Gastrointestinal involvement in chronic granulomatous disease. Pediatrics 2004;114(2):462-468.

De Ravin SS, Naumann N, Cowen EW, Friend J, Hilligoss D, Marquesen M, et al. Chronic granulomatous disease as a risk factor for autoimmune disease. J Allergy Clin Immunol 2008;122(6):1097-1103.

Schmitt CP, Schärer K, Waldherr R, Seger RA, Debatin KM. Glomerulonephritis associated with chronic granulomatous disease and systemic lupus erythematosus. Nephrol Dial Transplant 1995;10(6):891-895.

Narsipur SS, Shanley PF. IgA nephropathy in a patient with chronic granulomatous disease. J Nephrol 2002;15(6):713-715.

Mahlen SD. Serratia infections: From military experiments to current practice. Clin Microbiol Rev 2011;24(4):755-791.

Marciano BE, Spalding C, Fitzgerald A, Mann D, Brown T, Osgood S, et al. Serious infections in chronic granulamatous disease. Clin Infect Dis 2015;60(8):1176-1183.

Galluzzo ML, Hernandez C, Davila MT, Pérez L, Oleastro M, Zelazko M, et al. Clinical and histopathological features and a unique spectrum of organisms significantly associated with chronic granulomatous disease osteomyelitis during childhood. Clin Infect Dis 2008;46(5):745-749.

Segal BH, DeCarlo ES, Kwon-Chung KJ, Malech HL, Gallin JI, Holland SM. Aspergillus nidulans infection in chronic granulomatous disease. Medicine (Baltimore) 1998;77(5):345-354.

Álvarez-Cardona A, Rodríguez-Lozano AL, Blancas-Galicia L, Rivas-Larrauri FE, Yamazaki-Nakashimada MA. Intravenous immunoglobulin treatment for macrophage activation syndrome complicating chronic granulomatous disease. J Clin Immunol 2012;32(2):207-211.

Lugo Reyes SO, Suarez F, Herbigneaux RM, Pacquement H, Réguerre Y, Rivière JP, et al. Hodgkin lymphoma in 2 children with chronic granulomatous disease. J Allergy Clin Immunol 2011;127(2):543-544.e1-3.

Towbin AJ, Chaves I. Chronic granulomatous disease. Pediatr Radiol 2010;40(5):657-668; quiz 792-3.

Repine JE, Clawson CC, White JG, Holmes B. Spectrum of function of neutrophils from carriers of sex-linked chronic granulomatous disease. J Pediatr 1975;87(6 Pt 1):901-907.

Anderson-Cohen M, Holland SM, Kuhns DB, Fleisher TA, Ding L, Brenner S, et al. Severe phenotype of chronic granulomatous disease presenting in a female with a de novo mutation in gp91-phox and a non familial, extremely skewed X chromosome inactivation. Clin Immunol 2003;109(3):308-317.

Wolach B, Scharf Y, Gavrieli R, de Boer M, Roos D. Unusual late presentation of X-linked chronic granulomatous disease in an adult female with a somatic mosaic for a novel mutation in CYBB. Blood 2005;105(1):61-66.

Roesler J. Carriers of X-linked chronic granulomatous disease at risk. Clin Immunol 2009;130(2):233; author reply 234.

Lewis EM, Singla M, Sergeant S, Koty PP, McPhail LC. X-linked chronic granulomatous disease secondary to skewed X chromosome inactivation in a female with a novel CYBB mutation and late presentation. Clin Immunol 2008;129(2):372-380.

Segal BH, Leto TL, Gallin JI, Malech HL, Holland SM. Genetic, biochemical and clinical features of chronic granulomatous disease. Medicine (Baltimore) 2000;79(3):170-200.

Slack M A, Thomsen IP. Prevention of infectious complications in patients with chronic granulomatous disease. J Pediatric Infect Dis Soc 2018;7(Suppl 1):S25-S30.

Beauté J, Obenga G, Le Mignot L, Mahlaoui N, Bougnoux ME, Mouy R, et al. Epidemiology and outcome of invasive fungal diseases in patients with chronic granulomatous disease: A multicenter study in France. Pediatr Infect Dis J 2011;30(1):57-62.

Daktilit ile Prezente Olan Kronik Granülomatöz Hastalık Tanısı Konulan Bir Olgu

ÖZET

References