The Related Agamaglobulinemia Gen X

Definition

Agamaglobulinemia related genX (XLA = X-linked agammaglobulinemia) or also called Agamaglobulinemia Burton emerged at the time of birth (kongenital / congenital aberration), which is marked by a low rate of immunoglobulin or no blood flow in samasekali someone.

Imunoglobulin molecule is a protein found in blood serum that function as antibodies. Without immunoglobulin, the body functions in the body's defense system is very low. People XLA very vulnerable to a fatal bacterial infection.

Description

Insidens XLA occurs in 1 baby from the birth of each new 50000-100000. Almost all people are men. Although people have XLA genes to produce immunoglobulin, but there is a congenital aberration in the X chromosome that impedes the pembentukkan. Congenital aberration there is no relation to imunoglobulin itself, but there is a relation with B cells found in the blood stream, which usually mensekresikan imunoglobulin.

B cells is a form of blood cells and white. Only the cells that produce this imunoglobulin in the body. B cells formed in the bone marrow, after matur / cooked and then spread to the spleen, lymph glands and other organs. Maturation process depends on an enzyme known as enzyme Bruton agamaglobulinemia tirosin kinase (Btk). If the enzyme is not formed or damaged, the maturation process of B cells did not occur until immunoglobulin is not formed.

Gen-forming genes located on chromosome Btk X. Changes (mutation) in these genes cause interference pembentukkan Btk. This difference is only bound on the X chromosome, so that people are generally XLA men. Women have 2 X kromsom, meaning they have 2 coffee / copy genes Btk, where one X chromosome is normal. While the men have only one X chromosome

Because the symptoms and the symptoms -

XLA is due defek / aberration in the genes that mengkode Btk. This aberration will impeded the maturation B cells, the cells that form imunoglobulin. However, some people with the immune system to function properly, the body XLA people are still able to overcome some form of infection such as fungus infections and almost half of the virus infection. Imunoglobulin very important in overcoming a bacterial infection. Babies born with the new XLA usually do not show symptoms during the first 6 months of life. This is imunoglobulin that comes from his mother is still circulating in the blood circulation in the baby. After imunoglobulin rate decreased from the mother of the baby is very vulnerable to bacterial infection.

Symptoms defisiensi imunoglobulin look after the baby is 6 months. The symptoms most often are the sine and ear infections, pneumonia and meningitis channel digested. Some types of viruses such as hepatitis and polio could threaten the health of the baby. Children who suffer XLA grow very slowly, have tonsil (tonsils) and lymph gland small, and to chronicle the skin infection.

Kuranglebih 20% of children with XLA suffering inflammation of bones, mainly because of inflammation in the joint caused.

Diagnosis

Often have a bacterial infection, the number of B cells matur very little imunoglobulin rate and a low or no use at all to enforce the diagnosis of this aberration. Serum from the blood of newborn babies are examined to determine the rate imunoglobulin with imunoelektoforesis techniques. To enforce the diagnosis, the baby chromosome analyzed to determine the defek genes in the Btk. The same analysis as it can be done during pregnancy or to detect the difference these genes.

Therapy

XLA therapy with the sitedit globulin intravenous regularly to prevent infection. While antibiotics given to treat infections that are happening. Children with XLA should diterapi properly to prevent injury, disease or infection and should be spared from the people who are infected.

Prognosis

Before and globulin sitedit era of antibiotic therapy, kuranglebih 90% of people died before the age of 8 years. Early diagnosis and appropriate therapy can give people the hope of life to reach adult age and live as normal. XLA a new baby born, and suffered polio infection or infection, which has set a poor prognosis.

Prevention

Parents of children XLA people should do genetic counseling if their plan has many children.