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Diagnosis of chronic granulomatous disease
Last reviewed: 04.07.2025
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Diagnostics
Diagnosis of chronic granulomatous disease is based on the assessment of the functional activity of phagocytes. The following tests are used:
- Nitroblue tetrazolium reduction test (NBT-test). Normally, when phagocytes absorb the yellow dye nitroblue tetrazolium (NBT), their metabolic activity increases, while NBT is oxidized, and the products of this reaction are colored blue. If the metabolism of phagocytes is disrupted, the intensity of blue coloration decreases.
- Neutrophil chemiluminescence. Substrate oxidation is accompanied by ultraviolet light emission or fluorescence, the intensity of the emission can be used to judge the functional activity of phagocytes.
- Assessment of phagocytic activity: the ability of phagocytes to destroy catalase-positive bacteria in vitro.
- Genetic examination of patients and their families when detecting disorders of the functional activity of phagocytes.
Definition of types and subtypes of chronic granulomatous disease
Immunoblotting with antibodies to all four components of NADPH oxidase is commonly used to differentiate chronic granulomatous disease types and subtypes. If one of the cytosolic components (p47 phax or p67 phax ) is absent from the blot, this indicates a mutation in the corresponding gene, whereas if one of the membrane components (gр91 phax or p22 phax ) is absent, the other is also not detected, since the subunits stabilize each other for full maturation and expression. Some investigators use cytoflowmetry with anti-cytochrome p558 antibodies to detect gp91 phax /p22 phax on the surface of neutrophils. Ultimately, the diagnosis is confirmed by identifying a mutation in the corresponding gene.
Prenatal diagnosis of chronic granulomatous disease
Before molecular genetic technologies became available, prenatal diagnosis of chronic granulomatous disease was performed by measuring the NADPH oxidase activity of fetal neutrophils and by collecting cord blood by fetoscopy at 16-18 weeks of gestation. DNA analysis of amniotic fluid cells or chorionic villi is now performed to look for specific gene defects using Southern blotting, polymerase chain reaction, and restriction fragment length polymorphism, which is more reliable and allows diagnosis to be made earlier in pregnancy.
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