What is pediatric chronic granulomatous disease (CGD)?

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

Chronic granulomatous disease (CGD), an inherited disorder of phagocytic cells, results from an inability of phagocytes to produce bactericidal superoxide anions (O2-). [1]  This consequently interferes with the production of hydrogen peroxide (H2O2), hypochlorous acid (HOCI), and hydroxyl radicals (OH.), products that play a critical role in killing certain pathogenic bacterial and fungal agents. These deficits lead to recurrent, life-threatening bacterial and fungal infections. In addition, most patients with chronic granulomatous disease have dysregulated T helper (Th)-17 lymphocyte–controlled inflammation.

The nitroblue tetrazolium (NBT) and dihydrorhodamine (DHR) tests, as well as genetic testing, are indicated in the workup of chronic granulomatous disease. Antimicrobial prophylaxis, early and aggressive treatment of infections, and interferon-gamma are the cornerstones of current therapy for this disease.

Since its first description in the 1950s as a syndrome of recurrent infections, hypergammaglobulinemia, hepatosplenomegaly, and lymphadenopathy in males who invariably died in the first decade of life, notable advances have been made in the understanding of this disease. The outlook for affected patients has also improved.

Chronic granulomatous disease is now known to be caused by a defect in the nicotinamide adenine dinucleotide phosphate (NADPH), reduced form, oxidase enzyme complex of phagocytes. Chronic granulomatous disease refers to the characteristic granulomas that develop in response to chronic inflammation.

Although chronic granulomatous disease was once fatal in childhood, current preventive therapies and early detection of infectious complications allow 90% of children with the disorder to reach adulthood. [2]


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