Chronic Granulomatous Disease – Symptoms and Causes
Overview
Chronic granulomatous disease (CGD) is a genetic disorder. It affects the normal function of phagocytes, which are white blood cells responsible for fighting infections. When these cells don’t work properly, the body becomes vulnerable to bacterial and fungal infections.
People with CGD commonly develop infections in various parts of the body, including the lungs, skin, lymph nodes, liver, and digestive system.
A distinctive feature of CGD is the formation of clusters of white blood cells in infected areas. This inherited condition typically appears during childhood, though some cases aren’t diagnosed until adulthood.
The disease runs in families through genetic transmission. Early diagnosis helps manage this chronic condition more effectively.
Signs and Symptoms
People with chronic granulomatous disease typically experience serious bacterial or fungal infections every few years. Lung infections, including pneumonia, are common problems. Exposure to dead leaves, mulch, or hay might cause dangerous fungal pneumonia in these individuals.
Infections can affect many parts of the body, including the skin, liver, digestive system, brain, and eyes. When infections occur, several symptoms might appear:
- Fever
- Pain in the chest when breathing
- Swollen, painful lymph nodes
- Persistent runny nose
- Skin problems (rashes, swelling, redness)
- Mouth inflammation and redness
- Difficulty swallowing
Digestive problems may include:
- Vomiting
- Diarrhea
- Stomach pain
- Blood in stool
- Painful abscesses (pockets of pus) near the anus
When to Get Medical Help
Seek immediate medical attention if you or your child develops symptoms of fungal pneumonia after being around dead leaves, mulch, or hay. If frequent infections occur with the symptoms listed above, consult a healthcare provider promptly.
Regular medical care is essential for managing this condition and preventing serious complications.
Causes
Chronic Granulomatous Disease (CGD) happens when one of five specific genes has a mutation. Children get this condition by inheriting the altered gene from a parent. These genes normally create proteins that form an important enzyme in the immune system.
This enzyme plays a vital role in white blood cells called phagocytes. These cells act like the body’s cleanup crew, destroying harmful fungi and bacteria. The enzyme also helps other immune cells that are involved in healing damaged tissues.
When gene mutations occur, either:
- The protective proteins aren’t made at all
- The proteins are made but don’t function correctly
This breakdown prevents the immune system from properly fighting certain infections.
Some people with CGD don’t have any of these known gene mutations. In these cases, doctors haven’t yet identified what causes their condition.
Risk Factors
Males face higher chances of developing CGD than females. This gender difference occurs because the genes linked to CGD are passed down through families.
