Chronic Granulomatous Disease is also known as:
- Chronic dysphagocytosis
- Chronic granulomatous disease
- Congenital dysphagocytosis
- A fatal granulomatous disease of childhood
- Granulomatosis, chronic, familial
- Granulomatosis, septic, progressive
- Impotent neutrophil syndrome
Chronic granulomatous disease is a rare inherited primary immune deficiency disorder that affects explicit WBC. This disorder is distinguished by an incapacity to counter infections caused by explicit sort of bacteria and fungal species and an inclination to develop chronic inflammation.
Lethal repetitive fungal and bacterial infections influencing the bones, lungs, and skin may transpire followed by swollen areas of inflamed tissues known as granulomas which can be extensively disseminated. Manifestations mostly start in infancy or childhood. Individuals with mild forms of the disease may not develop manifestations until teens or adulthood. The chronic granulomatous disease is a genetic disorder and is brought out by inherited deficiency in a major enzyme in white blood cells that produce oxidants for pathogen killing.
Signs & Symptoms of Chronic Granulomatous Disease
The chronic granulomatous disease is distinguished by a receptive to recurrent bacterial and fungal infections. Chronic Granulomatous Disease can also be correlated with the growth of granulomatous lesions of the skin, lungs, bones, and lymph nodes established by a troupe of inflammatory white blood cells. surplus gamma globulin in the blood decreased levels of circulating red blood cells, an increase in white blood cells can arise as a result of recurrent chronic inflammation. Confirmation of chronic infections can also be seen in the liver, gastrointestinal tract, brain, and eyes.
Generally, a history of recurrent infections together with inflammation of the lymph glands, skin, and pneumonia can be observed. Blood studies can show the manifestation of chronic infection. Also, there may be a constant runny nose, inflammation of the skin, and inflammation of the mucous membranes of the mouth. Gastrointestinal problems may also manifest, as well as diarrhea, abdominal pain, and perianal abscesses.
Infection of the bones, brain abscesses, obstruction of the genitourinary tract and/or gastrointestinal tract because of the formation of granulomatous tissue, and retarded growth are also symptoms of chronic granulomatous disease. Unusual enlargement of the liver and spleen can also manifest.
The chronic granulomatous disease is heritable. In CGD, changes (mutations) in any one of five separate genes can cause a deficiency in an enzyme called phagocyte NADPH oxidase. Some white blood cells utilize this enzyme to manufacture hydrogen peroxide, which these cells need to destroy certain bacteria and fungi.
Genetic diseases are decided by two genes, one from the mother and the other from the father. There is a genetic form of chronic granulomatous disease that essentially affects males.
X-linked genetic diseases are circumstances produced by an unusual gene on the X chromosome and show in males mostly. Females that have an abnormal gene present on one of their X chromosomes are called “carriers” for that disease. If a male inherits an X chromosome that carries this defective gene he will produce the disease.
Women who carry this X-linked form of CGD, generally do not appear as symptoms of infections as females are having two X chromosomes and only one carry this unusual gene. Some X-linked chronic granulomatous disease carriers have inflammatory conditions including the skin, gastrointestinal tract, or lupus and other autoimmune diseases
Prevalence of the Chronic Granulomatous Disease
Chronic granulomatous disease influences males more than females. North American and European studies show approximately, two-thirds of individuals have this X-linked recessive form of the disease. Since it is a genetic disease, CGD is present at birth. Symptoms from CGD usually first transpire during infancy or childhood, but sometimes may be retarded until teens. In some cases, the first signs have been known to manifest in adulthood
Diagnosis of the chronic granulomatous disease is produced based on an in-depth clinical evaluation, a thorough patient history, and specialized procedures to quantify oxidants produced by white blood cells. In healthy individuals, the white blood cells fabricate a chemical oxidant that kills bacteria. A blood test for diagnosis of CGD utilizes a molecule known as dihydrorhodamine 123 to establish whether or not white blood cells are producing these oxidants normally. Oxidants produce this dihydrorhodamine to illumination, which is distinctly reduced or absent in chronic granulomatous disease white blood cells. This test can be achieved on blood samples dispatched to clinical laboratories certified to implement this test. Another blood test for CGD is known as the nitroblue tetrazolium slide test. If CGD is diagnosed based on defects in blood cell oxidant building, genetic testing is usually suggested to determine the specific type of CGD.
Treatment of chronic granulomatous disease is made up of constant antibiotic therapy to aids in preventing infections, for example, trimethoprim and sulfamethoxazole to protect against bacterial infections and itraconazole for fungal infections. Infections usually need additional antibiotics. Corticosteroid drugs also benefit in treating granulomatous disease. Bone marrow transplants are also proving to be successful in few affected individuals with CGD.
Actimmune, the orphan drug, is accepted by the Food and Drug Administration in treating chronic granulomatous disease.
Genetic counseling is suggested for affected people. Another treatment is symptomatic and supportive.