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How does chronic granulomatous disease challenge our immune system? Let's uncover the truth about this mysterious disease!
Chronic granulomatous disease (CGD) is a rare genetic disease that affects the function of the immune system, making it difficult for some immune cells to produce reactive oxidative substances that can be used to kill certain pathogens. As a severe immunodeficiency disease, patients with CGD often face repeated infection challenges. According to data from the United States, the incidence of CGD is about 1 in 200,000, and there are about 20 new cases every year. The disease was first described in 1950, and the underlying cellular mechanisms were identified in 1967.
"The core problem of CGD is that immune cells cannot effectively kill engulfed pathogens."
Symptoms and signs
Symptoms of CGD usually appear in childhood, often before the age of five. The most obvious sign in patients is recurring infections, which include:
- Pneumonia
- Abscesses in skin and organs
- Arthritis
- Omyelitis
- Bacteremia
- Superficial skin infections such as cellulitis or pustules
Unusual infection
Patients with CGD are often infected by pathogens that do not normally cause disease in the normal immune system. These pathogens are mainly bacteria that produce catalytic enzymes, such as Staphylococcus aureus, Staphylococcus epidermidis, and specific fungi such as Aspergillus pulmonis.
"Although CGD patients can resist bacteria without catalytic enzymes, they are vulnerable to bacteria that produce catalytic enzymes."
Genetics
The vast majority of CGD is caused by gene mutations on the X chromosome. This means that the condition is more common in men. Different types of CGD may occur due to the influence of multiple genetic mutations, including autorecessive forms.
Pathophysiology
The immune cells of CGD patients cannot effectively generate reactive oxidants to destroy pathogens, mainly because of defects in their NADPH oxidase system. These immune cells rely on the correct functioning of this enzyme in the respiratory burst response after phagocytosis of bacteria. When this system is damaged, the bacteria are not effectively killed.
Diagnosis
Diagnosis of CGD mainly relies on neutrophil function tests. When suspicion of CGD arises, doctors typically perform neutrophil function testing and eventually genetic testing to confirm the diagnosis.
"Testing of neutrophil function may reveal problems in the production of reactive oxidants in patients with CGD."
Classification and treatment
The treatment of CGD is mainly divided into two directions: early diagnosis and infection prevention. Antibiotics are commonly used preventive drugs, and doctors may recommend sulfamethoxazole to prevent bacterial infections. Additionally, for fungal infections, medications such as itraconazole are often used.
Prognosis
Modern treatments have helped improve the survival of CGD patients. In the past, many patients died before the age of ten, but now the mortality rate has dropped to less than 3% in patients who receive appropriate antibiotic prophylaxis. As mankind's understanding of this disease has deepened, the average survival age has been extended to at least 40 years.
Conclusion
Research on chronic granulomatous disease is not just an exploration of a disease, it also challenges how we understand the complexity of the immune system and the body's response mechanisms. What can we do to protect ourselves and others in the face of this serious disease, and everyone is looking for answers?
