A Case of Recurrent Granulomatous Disease

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.

Keywords:

Fever, Genetic Disorders, Granuloma, Lymphadenopathy Pneumonia,

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Middle Black Sea Journal of Health Science-Cover

Yayın Aralığı: Yılda 4 Sayı
Başlangıç: 2015
Yayıncı: Ordu Üniversitesi

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