Publication: Kronik granülomatöz hastalık: Her zaman infeksiyonla ilişkili midir?
Abstract
Kronik granülomatöz hastalık (KGH), nikotinamid adenin dinükleotid fosfat oksidaz sistemini kodlayan genlerdeki mutasyonla karakterize bir fagositer sistem hastalığıdır. Genetik olarak heterojen geçişli olup X’e bağlı genotip (%65-70) en sık rastlanan tiptir. Fagosit içinde reaktif oksijen ara ürünlerinin açığa çıkmaması sonucu özellikle katalaz-pozitif bakterilere, mantar infeksiyonlarına ve apse oluşumuna yatkınlık söz konusudur. Bu hastalıkta perikardiyal efüzyon nadir olarak ortaya çıkabilmektedir. Perikardiyal efüzyon, mantar infeksiyonuna ikincil veya artan inflamasyona bağlı meydana gelebilmektedir. Yirmi aylık erkek olgu ateş ve çarpıntı nedeniyle başvurdu. Yapılan değerlendirmede 11 mm genişliğinde perikardiyal efüzyon saptanan olguda yenidoğan döneminde gelişen perianal apse öyküsü nedeniyle ayırıcı tanıda KGH düşünüldü. Nitroblue tetrazoliyum ve dihidrorhodamin testi düşük saptanarak KGH tanısı kesinleştirildi. Perikard sıvısının değerlendirilmesinde herhangi bir viral, bakteriyel ve fungal mikroorganizma üretilememesine rağmen başlanan geniş spektrumlu antibakteriyel, antifungal ve antiinflamatuvar tedavi ile perikardiyal sıvının gerilediği gözlendi. Bu olgu bildirimi ile KGH’de nadir de olsa oluşan perikardiyal efüzyonun altta yatan herhangi bir infeksiyon olmadan artan inflamasyona ikincil oluşabileceği ve klinik izlem ile düzelebileceği vurgulanmak istenmiştir.
Chronic granulomatous disease (CGD) is a rare disease of the phagocytic system characterized by mutation in nicotinamide adenine dinucleotide phosphate oxidase enzyme system. The heredity of disease is heterogeneous and X-linked genotype accounts for the most common type (65-70%). In patients with CGD reduction of reactive oxygen intermediates in phagocytes have result in susceptibility to catalase positive bacterial and fungal infections and abscess formation. Pericardial effusion and CGD coexistence is very rare condition and may occur during invasive fungal infections or secondary to enhanced inflammation. Twenty-monthold boy presented with fever and palpitation. On physical examination tachycardia and pericardial effusion was revealed (width: 11 mm) and his history was notable for perianal abscess in newborn period. Therefore, CGD was included in the differential diagnosis which was confirmed by nitroblue tetrazolium and dihidrorhodamin test. Despite negativity of microbiological culture for bacterial and fungal microorganisms the patient was placed on broad-spectrum antibacterial, antifungal and antiinflammatory treatment. His condition improved without any complication. In this report, we emphasize that in patient with CGD pericardial effusion may be occurred secondary to increased inflammation without any microbial causes and can be resolved during clinical follow-up.
Chronic granulomatous disease (CGD) is a rare disease of the phagocytic system characterized by mutation in nicotinamide adenine dinucleotide phosphate oxidase enzyme system. The heredity of disease is heterogeneous and X-linked genotype accounts for the most common type (65-70%). In patients with CGD reduction of reactive oxygen intermediates in phagocytes have result in susceptibility to catalase positive bacterial and fungal infections and abscess formation. Pericardial effusion and CGD coexistence is very rare condition and may occur during invasive fungal infections or secondary to enhanced inflammation. Twenty-monthold boy presented with fever and palpitation. On physical examination tachycardia and pericardial effusion was revealed (width: 11 mm) and his history was notable for perianal abscess in newborn period. Therefore, CGD was included in the differential diagnosis which was confirmed by nitroblue tetrazolium and dihidrorhodamin test. Despite negativity of microbiological culture for bacterial and fungal microorganisms the patient was placed on broad-spectrum antibacterial, antifungal and antiinflammatory treatment. His condition improved without any complication. In this report, we emphasize that in patient with CGD pericardial effusion may be occurred secondary to increased inflammation without any microbial causes and can be resolved during clinical follow-up.