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How is Chronic Granulomatous Disease diagnosed?

See how Chronic Granulomatous Disease is diagnosed. Which specialists are essential to meet, what tests are needed and other useful information for the diagnosis of Chronic Granulomatous Disease

Chronic Granulomatous Disease diagnosis

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:




  • Nitroblue tetrazolium (NBT) test: This test measures the ability of phagocytes to produce a chemical reaction that turns a dye blue. In individuals with CGD, the dye remains colorless or only partially changes color, indicating a deficiency in the production of reactive oxygen species by phagocytes.

  • Dihydrorhodamine (DHR) flow cytometry: This test is more sensitive than the NBT test and measures the ability of phagocytes to produce reactive oxygen species. It involves staining the patient's white blood cells with a fluorescent dye and analyzing them using flow cytometry. Reduced fluorescence indicates a potential CGD diagnosis.

  • Microbiological cultures: Cultures of blood, sputum, skin lesions, or other body fluids are performed to identify the specific bacteria or fungi causing infections. This helps determine the appropriate treatment and can provide additional evidence for a CGD diagnosis.

  • Genetic analysis: Once CGD is suspected based on clinical and laboratory findings, genetic testing is conducted to confirm the diagnosis. This involves analyzing the patient's DNA for mutations in the genes associated with CGD, such as CYBB, NCF1, NCF2, NCF4, or CYBA. Genetic analysis can also help identify the specific type of CGD and provide information about inheritance patterns.



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.


Diseasemaps
3 answers
through x-rays and bloodwork

Posted Dec 24, 2017 by carrie123 3550
It is diagnosed through a serious infection or continuous infections caused by a certain groups of bacteria or fungi. The genetic tests are done following, to determine the type of CGD.

Posted Jul 23, 2018 by Wanderer 400

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