Chronic Granulomatous Disease (CGD) treatment in India

What is chronic granulomatous disease (CGD)?

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.

Causes

CGD starts in the genes

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.

X-linked CGD

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.

Autosomal recessive 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.

If your daughter is a carrier, her sons will have a:

50% chance of having CGD

50% chance of being unaffected

Her daughters will have a:

50% chance of being a CGD carrier

50% chance of being unaffected

If your son has CGD:

All of his sons will be unaffected

All of his daughters will be carriers

Symptoms

• Fever
• Chest pain when inhaling or exhaling
• Swollen and sore lymph glands
• A persistent runny nose
• Skin irritation that may include a rash, swelling or redness
• Swelling and redness in your mouth
• Gastrointestinal problems that may include vomiting, diarrhea, stomach pain, bloody stool or a painful pocket of pus near the anus

Diagnosis

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:

• Neutrophil function tests. Your doctor may conduct a dihydrorhodamine 123 (DHR) test or other tests to see how well a type of white blood cell (neutrophil) in your blood is functioning. Doctors usually use this test to diagnose CGD.
• Genetic testing. Your doctor may request a genetic test to confirm the presence of a specific genetic mutation that results in chronic granulomatous disease.
• Prenatal testing. Doctors may conduct prenatal testing to diagnose CGD if one of your children already has been diagnosed with CGD.

Treatment

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?

• Shortness of breath.
• Wheezing.
• Chest pain.
• Fever.
• Dry cough that won't go away.

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.