परिभाषा
Chronic granulomatous disease develops when a specific gene from both parents passes to the child. This gene causes abnormal cells to develop in the immune system. The abnormal cells are called phagocytic cells. They normally kill bacteria. With this disease, these cells cannot work properly. As a result, the body can not fight some types of bacteria. It also makes infections likely to return.
The increased risk of infections can lead to premature death. Repeated lung infections are often the cause of death with this disease. Preventative care and treatment can help to reduce and temporarily control infections.
CGD is a rare condition.
का कारण बनता है
The disease is usually caused by a recessive gene. This means two of these defective genes have to be present for the disease to develop. This gene is carried on the X chromosome. Both parents must have the gene.
जोखिम कारक
The following factors increase your chance of developing CGD:
- Parents who have the recessive trait
- महिला होना
लक्षण
Typically, symptoms begin to appear in childhood. In some, they may not appear until the teen years.
लक्षणों में शामिल हैं:
- गर्दन में सूजी हुई लिम्फ नोड्स
- Frequent skin infections that are resistant to treatment, such as:
- फोड़े
- Boils
- Persistent diarrhea
- हड्डी में दर्द
- जोड़ों का दर्द
निदान
आपका डॉक्टर आपके लक्षणों और चिकित्सा इतिहास के बारे में पूछेगा। एक शारीरिक परीक्षा ली जाएगी।
परीक्षण शामिल हो सकते हैं निम्नलिखित:
- You may have you bodily fluids and tissue tested. This can be done with:
- बायोप्सी
- पूर्ण रक्त गणना (सीबीसी)
- Dihydrorhodamine reduction (DHR) flow cytometry test—a blood test that looks at the ability of phagocytes to make chemicals that can destroy bacteria
- Erythrocyte sedimentation rate (ESR)—to test for inflammation
- You may have pictures taken of your bodily structures. This can be done with:
- छाती का एक्स - रे
- बोन स्कैन
- Liver scan
उपचार
आपके लिए सबसे अच्छी योजना के बारे में अपने डॉक्टर से बात करें। उपचार के विकल्पों में शामिल हैं:
दवाएं
You may be given medications to treat this condition.
- Antibiotics—used to prevent and treat infections
- Interferon gamma —reduces the number of infections in patients; not useful in newly active infections
बोन मैरो प्रत्यारोपण
Bone marrow transplantation may be an option. A suitable donor will need to be found. It is a definitive cure.
सर्जरी
Surgery may involve the removal of abscesses.
टीके
Some live viral vaccines should be avoided. You should talk to your doctor before receiving one.
रोकथाम
CGD is an inherited disease. There are no preventive steps to reduce the risk of being born with the disease. Genetic counseling may be helpful. It can be used to detect carrier status in woman. Early diagnosis is vital. It will allow for early treatment. The bone marrow transplant donor search can also be started.