How is pediatric chronic granulomatous disease (CGD) diagnosed?

Updated: Aug 07, 2019
  • Author: Lawrence C Wolfe, MD; Chief Editor: Cameron K Tebbi, MD  more...
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Answer

The standard assay for phagocytic oxidase activity is the NBT test, while the DHR test is now widely and commercially available and should be considered the preferred screening and diagnostic test for CGD. Testing for specific gene mutation is useful to establish the genetic inheritance pattern of CGD and aid in family counseling.

Imaging studies such as chest radiography and computed tomography (CT) scanning are valuable in the diagnosis and management of pulmonary and hepatosplenic infections.

The two most frequent findings on histologic examination of CGD lesions are infection and postinfectious granulomas.


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