Chronic Granulomatous Disease (CGD) is a rare inherited disorder that affects the immune system. It is characterized by the inability of certain white blood cells, called phagocytes, to effectively kill bacteria and fungi. This leads to the formation of granulomas, which are clusters of immune cells that accumulate and cause inflammation in various organs and tissues.
Symptoms:
1. Recurrent Infections: One of the primary symptoms of CGD is the presence of recurrent and severe bacterial and fungal infections. These infections can affect different parts of the body, including the skin, lungs, lymph nodes, liver, and gastrointestinal tract. Common infections include pneumonia, abscesses, skin infections, and deep-seated fungal infections.
2. Granuloma Formation: CGD leads to the formation of granulomas, which are abnormal accumulations of immune cells. These granulomas can develop in various organs, such as the lungs, liver, spleen, and gastrointestinal tract. The presence of granulomas can cause symptoms such as cough, shortness of breath, abdominal pain, and diarrhea.
3. Growth and Development Issues: Children with CGD may experience growth and developmental delays. This can include delayed puberty, slow growth, and delayed tooth eruption.
4. Swollen Lymph Nodes: Enlarged lymph nodes, particularly in the neck, may be observed in individuals with CGD. These swollen lymph nodes can be tender and may persist for an extended period.
5. Chronic Diarrhea: CGD can cause chronic diarrhea, which may be accompanied by abdominal pain and cramping. This symptom is often associated with granuloma formation in the gastrointestinal tract.
6. Delayed Wound Healing: Individuals with CGD may experience delayed wound healing or the development of persistent skin infections. This is due to the impaired ability of phagocytes to effectively eliminate bacteria.
7. Organ Damage: Over time, the repeated infections and inflammation associated with CGD can lead to organ damage. This can affect the lungs, liver, spleen, and gastrointestinal tract, potentially causing long-term complications.
It is important to note that the severity and specific symptoms of CGD can vary among individuals. Some individuals may have milder forms of the disease with fewer symptoms, while others may experience more severe and frequent infections.
If CGD is suspected, it is crucial to consult with a healthcare professional for a proper diagnosis and appropriate management. Treatment options for CGD may include antimicrobial medications to control infections, immunomodulatory therapies, and in some cases, bone marrow transplantation.