Chronic granulomatous disease (CGD) is an inherited disorder characterized by defective granulocyte bactericidal function, leading to widespread granulomatous lesions in the skin, lungs, and lymph nodes. Most affected individuals are males with X-linked recessive inheritance, while a minority have autosomal recessive inheritance, affecting both sexes. The primary defect lies in the insufficient production of hydrogen peroxide by the host phagocyte system, which fails to kill hydrogen peroxide-positive bacteria, resulting in widespread infections. Granulomas form as a reaction to suppurative infections, often accompanied by pigmented lipid-laden histiocyte infiltration and encapsulation.

bubble_chart Clinical Manifestations

The disease usually begins in childhood. It is characterized by recurrent infections of the skin, lungs, and lymph nodes. The causative agents are often catalase-producing bacteria, such as Staphylococcus aureus, Serratia, Escherichia coli, and Pseudomonas, leading to suppurative lymphadenitis, rhinitis, conjunctivitis, pneumonia, and chronic dermatitis. Liver abscesses and osteomyelitis are also relatively common. Localized granulomas in the gastric wall can cause antral stenosis. Additionally, it may cause retinal damage, chronic diarrhea, perianal abscesses, and brain abscesses. Affected children generally experience delayed development.

bubble_chart Auxiliary Examination

The white blood cell count may increase due to infection; however, the production of hydrogen peroxide, superoxide, and other reactive oxygen species may be impaired due to a deficiency in nicotinamide adenine dinucleotide phosphate (NADP) oxidase activity. Other granulocyte proteins (such as cytochrome b245) may also be deficient. The absence of granulocyte nitroblue tetrazolium (NBT) reduction test and abnormal bactericidal tests can aid in diagnosis. Additionally, anemia is often present, and bone marrow smears may reveal dark blue histiocytes.

Infections often require intermittent or continuous treatment with large amounts of antibiotics, and sulfisoxazole is also effective. The use of hydrogen peroxide-generating agents such as methylene blue and phenidone has limited efficacy. Abscesses require surgical drainage. In the past, CGD was considered to have a poor prognosis, but some patients remain in good health and survive into young adulthood. Severe cases may be treated with bone marrow transplantation.