Chronic granulomatous disease

Chronic Granulomatous Disease (CGD; Fatal Granulomatosis of Childhood; Chronic Granulomatous Disease of Childhood; Progressive Septic Granulomatosis)

Description of chronic granulomatous disease

Chronic granulomatous disease develops, When granulomatous specific gene from both parent passes to the child. This gene causes abnormal development of cells of the immune system (in this case phagocytes). Phagocytes kill foreign bacteria, entering the body. In the presence of chronic granulomatous disease phagocytes do not function properly and the body can not fight some types of bacteria. Chronic granulomatous disease also increases the likelihood of recurrence of infections.

Dangerous infections can lead to premature death. A frequent cause of death in this disease are recurrent lung infections. Preventive care and treatment can reduce the risk of infection and temporarily control infections.

CGD is a rare disease.

Causes of chronic granulomatous disease

The disease is usually caused by a recessive gene. It means, that the appearance of the disease must be two defective gene. Gene chronic granulomatous disease is transmitted by the X chromosome. To the disease has evolved, the gene must have both parents.

Risk factors for chronic granulomatous disease

Factors, which can increase the risk of chronic granulomatous disease include:

• The presence of a recessive gene from their parents;
• Paul: female.

Symptoms of chronic granulomatous disease

Usually, Symptoms begin to appear in childhood. In some patients, they may not appear until adolescence.

Symptoms of chronic granulomatous disease include:

• Swollen lymph nodes in the neck;
• Frequent skin infections, which are difficult to treat:
  • Abscesses;
  • Boils;
• Persistent diarrhea;
• Pain in the bones;
• Joint pain.

Diagnosis of chronic granulomatous disease

The doctor will ask about your symptoms and medical history, and perform a physical examination. Tests may include the following:

• The study of fluids and tissues, Why use:
  • Biopsy;
  • General blood analysis;
  • Проточная цитометрия с использованием дигидрородамина – анализ крови, which is determined by the presence of chemicals in phagocytes, which can kill bacteria;
  • Erythrocyte sedimentation rate (ESR) – для определения наличия воспаления;
• Images can be formed inside the body structure, for which the following methods:
  • Chest X-ray;
  • Bone scan;
  • Scanning liver.

Treatment of chronic granulomatous disease

Methods of treatment of chronic granulomatous disease include:

Medication in patients with chronic granulomatous disease

For the treatment of chronic granulomatous disease may be assigned:

• Антибиотики – используются для профилактики и лечения инфекций;
• Интерферон гамма – уменьшает вероятность развития инфекций, but is ineffective in the presence of active infection.

Bone marrow transplantation

One of the best options for the treatment of chronic granulomatous disease is a bone marrow transplant, in most cases, it allows you to fully recover from the disease.

Surgery

Surgical intervention may be necessary to remove abscesses.

Vaccines

Avoid some live virus vaccines. You should talk to your doctor, before vaccination.

Prevention of chronic granulomatous disease

CGD is an inherited disease. There is no preventive measures, allowing to reduce the risk of birth with the disease. In some cases, it may be useful genetic counseling, to determine the presence of the defective gene. Early diagnosis of chronic granulomatous disease is a vital. This will allow early treatment, and an early start the donor search for a bone marrow transplant.