Chronic granulomatous disease diagnosed in adulthood

Abstract

Chronic granulomatous disease (CGD) is a rare, genetically heterogeneous disease characterized by severe infections that can be life threatening. The disease develops due to defects in nicotinamide adenine dinucleotide phosphate (NADPH) oxidase system. It is characterized by granuloma formation depending on recurrent infections and increased inflammatory response. Lung, skin, lymph nodes, and liver are the most involved organs. Nitroblue tetrazolium test (NBT) is the most frequently used test in screening. In this article, a chronic granulomatous disease case diagnosed in adulthood and having recurrent liver and lung abscesses is reported in light of the literature. A 22-year-old male patient was admitted to our polyclinic with high fever for two weeks. Patient's family history was received in terms of CGD and NBT was carried out. Patient's NBT result was negative (0%) twice. The patient was administered empiric ceftriaxone and metronidazole treatment. Abscess drainage was planned for the patient diagnosed as CGD as a result of the analyses. The patient who developed fever response and whose laboratory values improved was discharged proposing polyclinic control with trimethoprim/ sulfamethoxazole and itraconazole prophylaxis. This case indicates that, although rarely, CGD might be diagnosed in adulthood in our country where consanguineous marriage and hereditary diseases are common.