About granulomatosis chronic familial

What is granulomatosis chronic familial?

Chronic granulomatous disease (CGD) is a rare inherited primary immune deficiency disorder that affects certain white blood corpuscles (neutrophils, monocytes, macrophages, eosinophils). The disorder is characterized by an inability to resist repeated infectious diseases and a tendency to develop chronic inflammation. Life-threatening recurrent fungal and bacterial infections affecting the skin, lungs, and bones may occur along with swollen areas of inflamed tissues known as granulomas that can be widely distributed. Symptoms usually begin in infancy or childhood. Individuals with mild forms of the disorder may not develop symptoms until the teens or adulthood. Chronic granulomatous disease is a genetic disorder and is caused by inherited defects in an important enzyme in white blood cells that manufactures oxidants for microbial killing.



What are the symptoms for granulomatosis chronic familial?

It's also common for people with CGD to experience infections of the skin, liver, stomach and intestines, brain, and eyes. Signs and symptoms associated with infections include:

  • 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



What are the causes for granulomatosis chronic familial?

A mutation in one of five genes can cause CGD. People with CGD inherit the gene mutation from a parent. The genes normally produce proteins that form an enzyme that helps your immune system work properly. The enzyme is active in white blood cells (phagocytes) that catch and destroy fungi and bacteria to protect you from infections. The enzyme is also active in immune cells that help your body heal.

When there are mutations to one of these genes, the protective proteins are not produced, or they're produced but they don't function properly.

Some people with CGD don't have one of these gene mutations. In these cases, doctors don't know what causes the condition.



What are the treatments for granulomatosis chronic familial?

Treatment for CGD is aimed at helping you avoid infections and manage your condition. Treatments may include:

  • Infection management. Your doctor will work to prevent bacterial and fungal infections before they occur. Treatment may include continuous antibiotic therapy, such as trimethoprim and sulfamethoxazole combination (Bactrim, Sulfatrim Pediatric) to protect against bacterial infections, and itraconazole (Sporanox, Tolsura) to prevent fungal infection. Additional antibiotics or antifungal medications may be necessary should infection occur.
  • 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.

Potential future treatments

Gene therapy is currently being explored for CGD treatment, but further research is necessary.

Researchers are also investigating repairing defective genes to treat CGD.



What are the risk factors for granulomatosis chronic familial?

Boys are more likely to have CGD.

 



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