Chronic Granulomatous Disease
Chronic granulomatous (gran-u-LOM-uh-tus) disease (CGD) is a genetic condition in which infection-fighting white blood cells don’t work properly. These white blood cells are called phagocytes. When phagocytes don’t work as they should, they can’t protect the body from bacterial and fungal infections.
People with chronic granulomatous disease get a serious bacterial or fungal infection every few years. An infection in the lungs, including pneumonia, is common. People with CGD may develop a serious type of fungal pneumonia after being exposed to dead leaves, mulch or hay.
It’s also common for people with CGD to experience infections of the skin, liver, stomach and intestines, brain, and eyes. Symptoms that may happen with infections include:
- Fever.
- Chest pain when inhaling or exhaling.
- Swollen and sore lymph glands.
- An ongoing runny nose.
- Skin irritation that may include a rash, swelling or redness.
- Swelling and redness in the mouth.
- Trouble swallowing.
- Gastrointestinal problems that may include:
- Vomiting.
- Diarrhea.
- Stomach pain.
- Bloody stool.
- A painful pocket of pus near the anus, called an abscess.
If you think you or your child has a type of fungal pneumonia from being around dead leaves, mulch or hay, get medical care right away. If you or your child often has infections and the symptoms listed above, talk to a healthcare professional.
A change in one of five genes can cause CGD. People with CGD inherit the changed gene from a parent. These genes produce proteins that form an enzyme. This enzyme helps your immune system work properly. The enzyme is active in white blood cells, called phagocytes, that protect you from infections by destroying fungi and bacteria. The enzyme also is active in immune cells that help your body heal.
When there are changes to one of these genes, the protective proteins are not produced. Or they’re produced, but they don’t work properly.
Some people with CGD don’t have one of these changed genes. In these cases, medical professionals don’t know what causes the condition.
Boys are more likely to have CGD.
To diagnose CGD, a healthcare professional will review a family and medical history and do a physical exam. There are several tests used to diagnose CGD, including:
- Neutrophil function tests. A healthcare professional may do a dihydrorhodamine 123 (DHR) test or other tests to see how well a type of white blood cell, called a neutrophil, is functioning. This test is commonly used to diagnose CGD.
- Genetic testing. A genetic test can confirm the presence of a specific genetic alteration that results in chronic granulomatous disease.
- Prenatal testing. A healthcare professional may do prenatal testing to diagnose CGD if one of your children already has been diagnosed with CGD.
Treatment for CGD is aimed at helping avoid infections and manage the condition. Treatments may include:
- Infection management. A healthcare professional will work to prevent bacterial and fungal infections before they start. Treatment may include a trimethoprim and sulfamethoxazole combination (Bactrim, Sulfatrim Pediatric) or itraconazole (Sporanox, Tolsura). Additional antibiotics or antifungal medicines may be necessary should infection happen.
- Interferon-gamma. Someone with CGD may occasionally have interferon-gamma injections, which may help boost cells in the immune system to fight infections.
- Stem cell transplantation. For some people, a stem cell transplant can provide a cure for CGD. Deciding to treat with stem cell transplantation depends on a number of factors, including prognosis, donor availability and personal preference.
Potential future treatments
Gene therapy is currently being explored for CGD treatment, but further research is necessary.
Researchers also are investigating repairing defective genes to treat CGD.
References
- Zerbe CS, et al. Chronic granulomatous disease: Pathogenesis, clinical manifestations, and diagnosis. https://www.uptodate.com/contents/search. Accessed Feb. 8, 2023.
- Chronic granulomatous disease. Medline Plus. https://ghr.nlm.nih.gov/condition/chronic-granulomatous-disease?_ga=1.168947753.905232672.1468720729. Accessed Feb. 14, 2023.
- Chronic granulomatous disease. National Organization for Rare Disorders. https://rarediseases.org/rare-diseases/chronic-granulomatous-disease/?filter=ovr-ds-resources. Accessed Feb. 9, 2023.
- Marciano BE, et al. Chronic granulomatous disease: Treatment and prognosis. https://www.uptodate.com/contents/search. Accessed Feb. 9, 2023.
- Chronic granulomatous disease (CGD). Merck Manual Professional Version. https://www.merckmanuals.com/professional/immunology-allergic-disorders/immunodeficiency-disorders/chronic-granulomatous-disease-cgd. Accessed Oct. 16, 2024.
- Ami TR. Allscripts EPSi. Mayo Clinic. Nov. 23, 2022.
- Keller MD, et al. Future of care for patients with chronic granulomatous disease: Gene therapy and targeted molecular medicine. Journal of the Pediatric Infectious Diseases Society. 2018; doi:10.1093/jpids/piy011.
- Jeffrey Modell Foundation. https://info4pi.org/. Accessed Feb. 9, 2023.
Ad
Women have unique health issues. And some of the health issues that affect both men and women can affect women differently.
Book your appointment TODAY!
Search on the closest Doctor to your location and book based on specialty. EARN 10 POINTS more with CuraPOINT.
BOOK