A Family Guide to Non-Oncologic Blood Disorders
Chronic Granulomatous Disease
What is chronic granulomatous disease? Chronic granulomatous disease (CGD) is a genetic disorder in which neutrophilic white blood cells are unable to kill some types of bacteria and fungi. Typically, neutrophils eat bacteria and fungi and use enzymes to kill them. In children with CGD, neutrophils eat the bacteria and fungi but cannot kill them, and form granulomas (scars) from the infections. The rest of the immune system functions normally. The mutation that causes CGD affects a gene on the X chromo- some and comes from the mother. Disorders inherited on the X chromosome appear only in males. A mother with the mutated gene will not have the disease, but will be a carrier and she may pass the mutated gene on to her children. A family history of recurrent or chronic infections is one of the main risk factors for CGD. Another type of CGD, which can affect either boys or girls, is inherited through one gene from each parent (autoso- mal recessive inheritance). Children with CGD are usually healthy at birth, but develop recurrent infections in the first few months or years of life that are difficult to treat. The following are the most common symptoms of CGD. However, each child may experience symp- toms differently. Symptoms may include: • Skin infections » » Boils » » Abscess perianal (abscess around the anus) » » Impetigo, a contagious skin infection caused by staph or strep bacteria • Pneumonia caused by certain bacteria and fungi can
How is CGD diagnosed? A diagnosis of CGD usually is made during the first year of life based on the following: • Complete medical history and family history • Physical examination » » Enlarged liver » » Enlarged spleen » » Swollen lymph nodes • Specific blood tests and possible chest X-ray • Prenatal screening if there is a family history of CGD What tests and procedures will my child need? • Bone scan to look for bone infections • Chest X ray to look for infection or scarring in the lungs • Complete blood count to confirm a low number of neutrophils • Flow cytometry tests to help confirm the disease • Nitroblue tetrazolium test to help confirm the disease and detect that the mother is a carrier • Dihydrorhodamine 123 (DHR) test to test neutrophils response • Tissue biopsy What are the treatment options for CGD? • Immediate referral to a pediatric immunologist, a doctor that specializes in the treatment of the immune system • Bactrim, an antibiotic • Antifungal and antiviral medications to prevent infec- tions and treat any active infections • Interferon gamma, a protein that provides temporary immunity to protect from infections • Hematopoietic stem cell transplant (HSCT) • Some severe skin infections may require surgery. • Your medical team will determine the best treatment plan for your child.
frequently occur and is difficult to cure. • Osteomyelitis (infection of the bone) • Persistent diarrhea
• Enlarged liver or spleen • Swollen lymph nodes • Gingivitis (swelling of the gums) • Fevers • Abdominal pain • Inflammatory bowel disease
Chronic Granulomatous Disease
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