Chronic Granulomatous Disease (CGD)

Overview

 Chronic granulomatous disease (CGD) is an inherited immunodeficiency disorder that affects the immune system’s ability to fight infections. It results from defects in phagocytes, a type of white blood cell responsible for destroying pathogens. These defects prevent the production of reactive oxygen compounds, particularly the superoxide radical, which is crucial for killing ingested bacteria and fungi. As a consequence, patients with CGD are prone to recurrent infections and the formation of granulomas in various organs.

Types of Chronic Granulomatous Disease (CGD)

1. X-Linked CGD: The most common form, caused by mutations in the CYBB gene on the X chromosome.
2. Autosomal Recessive CGD (AR-CGD):
   • Type I: Defects in the NCF1 gene.
   • Type II: Defects in the CYBA gene.
3. Atypical CGD: Rare variants with distinct genetic mutations.

Causes of Chronic Granulomatous Disease (CGD)

CGD results from mutations in genes encoding enzymes involved in the immune system. Specifically, the NADPH oxidase complex, which generates reactive oxygen species, is dysfunctional. Depending on the affected gene, inheritance can be X-linked or autosomal recessive. Boys are more likely to develop CGD due to its X-linked inheritance pattern.

Risk Factors of Chronic Granulomatous Disease (CGD)

• Family History: A family history of recurrent or chronic infections increases the risk.
• Gender: Boys are more susceptible due to the X-linked inheritance pattern.

Symptoms of Chronic Granulomatous Disease (CGD)

Preventions of Chronic Granulomatous Disease (CGD)

• Avoidance: Prevent exposure to potential pathogens.
• Hygiene: Thoroughly wash and cook foods to prevent foodborne infections.
• Self-Care: Avoid swimming in non-chlorinated water and raw foods.

Diagnosis of Chronic Granulomatous Disease (CGD)

• Clinical Evaluation: Review family history and perform a physical exam.
• Diagnostic Tests:
  • Dihydrorhodamine 123 Test: Initial diagnostic test.
  • Nitroblue-tetrazolium (NBT) Test: Detects reduced superoxide production.
  • Genetic Testing: Confirms specific causative mutations.

Treatment for Chronic Granulomatous Disease (CGD)

• Interferon Gamma Injections: Enhance the body’s infection-fighting ability.
• Preventative Antibiotics: To ward off infections.
• Stem Cell Transplantation: For severe cases.
• Medication: Penicillin and antifungals.
• Self-Care Measures: Avoid risky activities.

When to seek medical attention ?

If you suspect that you or someone you know may have CGD, it’s essential to seek medical attention promptly. Here are the situations when you should consult a doctor:

1. Recurrent Infections: If you experience frequent bacterial or fungal infections (such as pneumonia, skin infections, or abscesses), consult a healthcare professional.

2. Unexplained Fevers: Persistent or recurrent fevers without an obvious cause should raise suspicion for CGD. Seek medical evaluation if you or your child has unexplained fever episodes.

3. Swollen Lymph Nodes: If you notice enlarged lymph nodes (lymphadenopathy) that are painful, persistent, or increasing in size, seek medical advice.

4. Delayed Healing: Wounds, cuts, or surgical incisions that heal slowly may indicate impaired immune function. Consult a doctor if you observe delayed healing.

5. Gastrointestinal Symptoms: CGD-related granulomas can affect the gastrointestinal tract, leading to symptoms like abdominal pain, diarrhea, and blood in stools. If you experience persistent gastrointestinal issues, consider seeing a gastroenterologist.