Disorders of neutrophil oxidative metabolism are caused by genetic mutations in the genes that are responsible for the production of the enzymes needed for the oxidative metabolism of neutrophils. These mutations can be inherited or acquired.
The diagnosis of disorders of neutrophil oxidative metabolism is based on clinical presentation, laboratory tests, and genetic testing. Clinical presentation can include recurrent infections, impaired wound healing, and chronic fatigue. Laboratory tests may include complete blood count, differential, and neutrophil oxidative metabolism tests. Genetic testing for mutations in the genes responsible for neutrophil oxidative metabolism can confirm a diagnosis.
Disorders of neutrophil oxidative metabolism must be differentiated from other conditions that can cause recurrent infections or impaired wound healing, such as immunodeficiencies or autoimmune disorders.
Treatment of disorders of neutrophil oxidative metabolism is aimed at managing the symptoms and preventing complications. This may include antibiotics to treat infections, immunoglobulin therapy, and supportive care. In some cases, gene therapy may be an option.
The prognosis for disorders of neutrophil oxidative metabolism is generally good, but depends on the severity of the disorder and the ability to manage symptoms and prevent complications. With appropriate treatment and management, individuals with these disorders can have a good quality of life.