Atypical Presentation of Chronic Granulomatous Disease with IgA Nephropathy

Chronic granulomatous disease (CGD) is a rare inherited disorder of neutrophil oxidative burst. Inpatients with CGD, phagocyte destruction of catalase-producing organisms is impaired, resulting in recurrent and potentially fatal infections.

We report an atypical case of 8y old boy with IgA nephropathy, recurrent lymphadenitis and in past medical history abdominal tuberculosis and pyogenic liver abscess. Patient was suggested to be healthy till 2 years of age. At the age of 2y periodic fever and lethargy were noticed. Fever was of unknown origin. Because of prolonged fever, CT was done. CT revealed abdominal tuberculosis, which was treated with anti-tuberculous drugs effectively. After 2 years from previous infection, At the age of 4, nephrotic syndrome was suspicious due to oliguria, proteinuria and hypoproteinemia. Renal Biopsy revealed IgA nephropathy. Renal function tests were within normal range; further treatment was not considered. Third infection in the row was at the age of 7 years patient presented with prolonged fever of unknown origin, blood analysis revealed leukocytosis due to neutrophilosis. Despite antibiotic treatment, fever was presented. During physical examination, hepatomegaly and RUQ pain were noticed. Abdominal ultrasound was performed and suspicious diagnosis was liver abscess, and later it was confirmed by Abdominal CT. Abscess drainage was done and etiological cause was staphylococcus aureus. After diagnosis anti-staphylococcal treatment was started. Drainage was performed during 2 month. After treatment of liver abscess recurrent cervical lymphadenitis were noticed. antibiotic treatment for lymphadenitis was effective. Based on patients’ clinical presentations primary immunodeficiency was suspicious. Humoral immune status Panel was performed, which revealed hypergamaglobulinemia IgA, IgG. Due to clinical presentations and lab. Findings our suggestive diagnosis was phagocytic immunodeficiency. Genetic testing revealed CYBB (Xp21.1) gene mutation – Diagnosis Confirmed.