Chronic granulomatous disease (CGD) is a genetic disorder of the immune system. It is most commonly diagnosed in young children, but can appear at any age. Most patients have severe recurrent infections because some of the white blood cells, called phagocytes, are unable to respond properly to pathogenic bacteria and fungi. Warning signs include multiple infections of the ear or sinuses, two or more pneumonias within one year, poor response to antibiotics, deep-seated infections such as meningitis or sepsis, and failure of an infant to grow normally. There is a simple blood test for diagnosis.
CGD affects different patients in very different ways. It can mimic other disorders, and it ranges from very mild to life threatening. Treatment options include long-term prophylactic antibiotics, stem cell transplantation and gene therapy. Balancing the risks and benefits of treatment is difficult because it is so hard to predict the course of the disease in individual patients.
A recent review article provides statistics on the different sites of disease in CGD, with the percentage of patients who experience episodes in these sites:
1. Lungs, 66 percent. Pneumonia is the most common manifestation of CGD in the lungs. It is sometimes confused with mycobacterial infection or sarcoidosis.
2. Skin, 53 percent. The symptoms are diverse, including skin abscesses caused by common bacteria.
3. Lymph node, 50 percent.
4. Gastrointestinal, 48 percent. Granulomas of the colon mimic Crohn's colitis; granulomas of the esophagus or stomach may cause obstruction. Other gastrointestinal symptoms include diarrhea, peri-anal abscess or fissure, gastroenteritis, stomatitis, aphthae, gingivitis and dental cavities, appendicitis and pancreatitis.
5. Liver, 32 percent. The most frequent symptom of liver involvement is abscess caused by Staphalococus aureus.
6. Kidneys and urinary tract, 22 percent. Infections are the most common urinary symptom, but granulomas can also cause hydronephrosis by obstructing the urinary tract, possibly leading to renal insufficiency.
7. Septicemia, 20 percent. A variety of bacteria can be the cause.
8. Ear, 14 percent.