Chronic granulomatous disease: A case review
Main Article Content
Abstract
Chronic granulomatous disease (Chronic Granulomatous Disease CGD) is a rare hereditary disease, characterized by recurrent and severe bacterial or fungal infections, a result of impaired phagocytic function neutrophils and macrophages. We described a case of CGD presented with clinical and paraclinical symptoms, a pattern often seen in Crohn's patients, such as persistent diarrhea and perianal abscess, and a history of repeated severe infections was recorded. Patients always have a high peripheral leukocyte count. The DHR test showed a low activity and was confirmed by a genetic sequencing assay that detected a mutation of the CYBB gene c.217C>T(pArg73Stp) on chromosome X. Protein gp91phox is an essential component of enzyme NADPH oxidase. The patient was treated with intravenous antibiotics, followed by lifelong antibacterial and antifungal prophylaxis. CGD is a rare and challenging case to diagnose. This patient's symptoms resemble other infectious diseases, especially Crohn's disease in Gastroenterology, so it is necessary to distinguish and diagnose in order to have an appropriate treatment plan.
Article Details
Keywords
chronic granulomatous disease, (CGD) Crohn disease, persistent infection.
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