Chronic Granulomatous Disease (CGD) is a rare genetic disorder that affects the immune system's ability to fight off certain types of bacterial and fungal infections. It is caused by mutations in genes that are responsible for producing proteins essential for the normal functioning of immune cells called phagocytes.
Diagnosing CGD involves a combination of clinical evaluation, laboratory tests, and genetic analysis. The process typically begins with a thorough medical history review and physical examination by a healthcare professional.
Medical history: The doctor will inquire about the patient's symptoms, recurrent infections, and family history of immune disorders. CGD is often suspected in individuals who have a history of severe or recurrent bacterial and fungal infections, especially those affecting the skin, lungs, lymph nodes, liver, and bones.
Physical examination: The doctor will carefully examine the patient for any signs of infection, such as swollen lymph nodes, skin abscesses, or lung abnormalities. These findings, combined with the medical history, can provide valuable clues for a potential CGD diagnosis.
Laboratory tests: Several laboratory tests are used to evaluate the immune system's function and identify abnormalities associated with CGD:
It is important to consult with a specialized immunologist or geneticist experienced in diagnosing and managing CGD. They will interpret the test results, consider the patient's clinical presentation, and make a definitive diagnosis.
Early diagnosis of CGD is crucial for implementing appropriate treatment strategies and preventive measures to minimize the risk of severe infections. Therefore, if CGD is suspected, it is essential to seek medical attention promptly.