Patient education: Chronic granulomatous disease (The Basics)

What is chronic granulomatous disease? — Chronic granulomatous disease (or "CGD") is a serious disease that causes infections, inflammation, and other symptoms. In a person who has CGD, some of the cells that normally fight infection do not work correctly. This makes the person more likely to get certain types of infection. These infections can be very serious. Sometimes, they even cause death.

CGD is a rare disease. It runs in families. Because CGD causes so many infections, doctors usually find it when the person with CGD is a child. CGD is more common in boys, but girls can also get it.

What are the symptoms of CGD? — The symptoms include:

●Pneumonia – This is a lung infection that causes coughing, fever, and trouble breathing. People with CGD can get pneumonia many times.

●Skin infections – These include:

•Cellulitis – This is a skin infection that causes pain, swelling, and redness.

•Impetigo – This is a skin infection that causes bumps to form on the skin. The bumps go on to form blisters that then burst and form a crust.

●Swollen lymph nodes – These are small, bean-shaped organs that are part of the body's infection-fighting system. There are lymph nodes behind the ears, in the neck, and in many other areas of the body. If a person is sick, lymph nodes can swell up and hurt.

●Abscesses – These are swollen areas where pus collects. They can be red and painful when they are on the skin. A common place to get these is around the rectum and anus. But they can also form in other tissues and organs, such as the liver.

●Digestive problems – These might include belly pain, diarrhea, or a blockage in the intestine.

●Growth problems – A child with CGD might be smaller than other children the same age.

People with CGD might not have symptoms, such as a fever, even if they have severe infections. They often have infections that come back again and again. For example, a child with CGD might get pneumonia several times. Or they might have many skin infections.

Is there a test for CGD? — Yes. The doctor or nurse will ask about your child's symptoms and do an exam. They will order blood tests. The tests can show:

●Problems with the body's infection-fighting system – This is also called the "immune system." In people who have CGD, some of the cells in the immune system do not work correctly.

●Abnormal genes – People with CGD have abnormal genes. A type of blood test called a "genetic test" can show if the genes are abnormal. If they are, this is good proof that the person has CGD.

If someone in your family had CGD, your child should have a blood test soon after they are born. If you are pregnant and know that someone in your family had CGD, you can have tests before your baby is born. These tests can show if the baby has CGD. If doctors find CGD before a baby is born, they can make plans to prevent infections and treat the disease.

How is CGD treated? — Treatments include:

●Medicines – These can:

•Help prevent infection

•Treat any infections that happen

●Bone marrow transplant (also called "stem cell transplant") – This treatment can cure CGD. A bone marrow transplant is a procedure that replaces abnormal or missing cells in the bone marrow with healthy cells. The bone marrow is the tissue in the center of certain bones. Bone marrow makes blood cells.

If a person with CGD gets a transplant of healthy bone marrow, this can help their body make new blood cells. The new blood cells from the transplant include normal infection-fighting cells. If a bone marrow transplant works, a person who had CGD can fight off infections like a healthy person.

More on this topic

Patient education: Allogeneic bone marrow transplant (The Basics)
Patient education: Pneumonia in children (The Basics)
Patient education: Cellulitis and erysipelas (skin infections) (The Basics)
Patient education: Impetigo (The Basics)

Patient education: Pneumonia prevention in adults (Beyond the Basics)
Patient education: Hematopoietic cell transplantation (bone marrow transplantation) (Beyond the Basics)
Patient education: Skin and soft tissue infection (cellulitis) (Beyond the Basics)
Patient education: Impetigo (Beyond the Basics)