It is an inherited disorder that occurs when a type of white blood cell (phagocyte) that usually helps your body fight infections doesn't work properly because of this phagocytes can't protect your body from bacterial and fungal infections. People with this disease may develop infections in their lungs, skin, lymph nodes, liver, stomach and intestines, or other areas. They may also develop clusters of white blood cells in infected areas.
It’s a genetic condition, which means you’re born with it. It’s passed down to a child from 1 or both parents who can be “carriers.” A carrier doesn’t have the disease, but his or her children can end up with it. Carriers of CGD have 1 normal copy of the gene and 1 copy of the gene that doesn’t work right. There are 2 types of CGD: X-linked and autosomal recessive.
The most common form of CGD is X-linked. It’s passed down from the mother because she carries a faulty X chromosome. This means she is a carrier of CGD. Usually only males get X-linked CGD. A male born to a carrier mother has a 50% chance of having CGD.
Both males and females can get autosomal recessive CGD. A child needs 2 copies of a gene that doesn’t work, 1 from each parent, to have autosomal recessive CGD. Any child born of carrier parents has a 25% chance of having autosomal recessive CGD, and a 50% chance of being a carrier.
50% chance of having CGD
50% chance of being unaffected
50% chance of being a CGD carrier
50% chance of being unaffected
All of his sons will be unaffected
All of his daughters will be carriers
Most people are diagnosed with CGD during childhood, but some people may not be diagnosed until adulthood. Your doctor will review family history and may order several tests to diagnose CGD, including:
Management of chronic granulomatous disease revolves around two goals: 1) diagnose the disease early so that antibiotic prophylaxis can be given to keep an infection from occurring, and 2) educate the patient about his or her condition so that prompt treatment can be given if an infection occurs.
Antibiotics. Physicians often prescribe the antibiotic trimethoprim-sulfamethoxazole to prevent bacterial infections.This drug also has the benefit of sparing the normal bacteria of the digestive tract. Fungal infection is commonly prevented with itraconazole, although a newer drug of the same type called voriconazole may be more effective.The use of this drug for this purpose is still under scientific investigation.
Interferon-gamma. You may have interferon-gamma injections periodically, which may help boost cells in your immune system to fight infections.
Stem cell transplantation. In some cases, a stem cell transplant can provide a cure for CGD. Deciding to treat with stem cell transplantation depends on a number of factors, including prognosis, donor availability and personal preference.
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Frequently asked questions
Q.What causes chronic granulomatous disease?
Chronic granulomatous disease is a genetic disease. In CGD, mutations in any one of five different genes can cause a defect in an enzyme called phagocyte NADPH oxidase. Certain white blood cells use this enzyme to produce hydrogen peroxide, which these cells need in order to kill certain bacteria and fungi.
Q.Is granulomatous disease curable?
The only cure for the disease is an allogeneic hematopoietic stem cell transplantation (HSCT).
Q.What are the side effects of granuloma?
Q.What is the component of choice for a patient with chronic granulomatous disease?
CGD patients should receive antibacterial and mould-active antifungal prophylaxis. Trimethoprim-sulfamethoxazole is generally the recommended agent for antibacterial prophylaxis.
Q.How does granuloma affect the body?
The body produces granulomas as a way to block out certain irritants that it is unable to ward off, and these lumps can form in tissues throughout the body, affecting how organs, like the lungs or eyes, work. Certain diseases are characterized by the formation of granulomas.
