X-linked agammaglobulinemia : diagnosis and treatment

clinical manifestations, diagnosis, treatment and prognosis of this type of immunodeficiency.

Clinical manifestations

Patients with X-linked agammaglobulinemia (XLA) susceptible to infections because they lack antibodies.These infections often develop on the surface or near the surface of the mucous membranes, such as in the middle ear, sinuses and lungs, but in some cases, the infection can affect the circulating blood or internal organs.

As a result, patients with XLA develop an infection of the sinuses (sinusitis), eyes (conjunctivitis), the ears (otitis), the nose (rhinitis), the airways (bronchitis) or the lung itself (pneumonia).It is also possible infection of the gastrointestinal tract, in particular, caused by Giardia intestinal Giardia.Intestinal lamblia can cause abdominal pain, diarrhea, growth retardation or loss of blood proteins, such as gamma globulin.

Some patients with XLA also prone to skin infections.In the absence of antibodies from any of these infections may enter the blood

stream and spread to other organs deep into the body, such as bones, joints or the brain.

Patients with XLA infections are usually caused by microorganisms that are quickly destroyed or inactivated by antibodies in healthy people.The agents of these infections are most often Streptococcus pneumoniae, Streptococcus, Staphylococcus aureus, or Haemophilus influenzae.

Some specific kinds of viruses may also cause serious infections in these patients.On physical examination, the majority of patients with XLA have very small tonsils and lymph nodes (cervical cancer).This is due to the fact that the tonsils and lymph nodes are mostly composed of B-lymphocytes.In the absence of B cells, these tissues are reduced.

Diagnosis Diagnosis of XLA should be borne in mind in any boy with recurrent or severe bacterial infections, particularly in small or absent tonsils and lymph nodes.

first study with the aim of screening is to determine serum immunoglobulins.In most cases, a significant decrease in or lack of immunoglobulin (IgG, IgM and IgA) detected by XLA.However, there are exceptions: some patients make some IgM or IgG.

In addition, infants in the first months of life, normal vyrabaty- vayut only small quantities of immunoglobulins, in connection with which it is sometimes difficult to distinguish the newborn with a normal delay in immunoglobulin production from a baby with true immunodeficiency
.

If the serum immunoglobulins are low or if the physician strongly suspects the diagnosis of XLA should determine the number of peripheral blood B cells.The low percentage (almost none) of B cells in the blood is the most characteristic and reliable laboratory signs of XLA.If a newborn baby boy brother or cousin or brother of the mother of XLA, the newborn is at risk of XLA and his family and physicians should immediately determine the percentage of blood B cells to start treatment before the baby is sick.

diagnosis of XLA can be confirmed by the absence of BTK protein in monocytes or platelets, or the detection of DNA mutations in BTK.Almost every family has a different mutation in BTK, but members of the same family usually have the same mutation.

Inheritance X-linked agammaglobulinemia (XLA) is a genetic disease that can be inherited and have a family.It is inherited as an X-linked recessive trait.

is important to know the type of inheritance that family members better understand why the child is ill, the risk that these children and what does it matter to other family members.

After identifying the gene that causes XLA, it became possible to explore the patient's sisters with XLA, and other female family members, such as family nurses the child's mother, to determine whether they are carriers of the disease.

Carriers of XLA disease does not occur, however, they can pass it on to his sons, with a probability of 50%.In some cases, it is also possible to identify the XLA in the fetus before birth.Now, these genetic studies are carried out in only a few laboratories.

Treatment

Currently there is no cure patients who have X-linked agammaglo-bulinemiey (XLA).The defective gene can not be repaired or replaced, and the maturation of precursor B lymphocytes in B-lymphocytes and plasma cells can not be stimulated.

However, patients with XLA can enter some missing their antibodies.These antibodies are in the form of immunoglobulins (or gamma-globulin) and may be administered directly into the bloodstream (intravenously) or under the skin.immunoglobulin preparations contain antibodies that substitute for the antibodies that the body XLA patient can not produce on their own.They contain antibodies to a wide spectrum of microorganisms.

Immunoglobulins are particularly effective in preventing the spread of infection in the blood and deep organs or tissue.Some patients benefit from daily oral antibiotics to prevent infection or to treat chronic sinusitis or bronchitis.Patients with XLA should not be vaccinated based on live virus, for example, live counterfield-poliomyelitis vaccine, and a vaccine against measles, mumps and rubella (MMR).

There is a small probability that the live vaccines (particularly the oral polio vaccine) in patients agammagobulinemiey may be the source of the disease, for the prevention of which they are designed.

forecast

Most patients with X-linked agammaglobulinemia (XLA), regularly receiving immunoglobulins able to lead a relatively normal life.They do not need isolation or restriction of activities.

should encourage active participation in team sports.From time to time, the infection may require special attention, but children with XLA can participate in all school and extracurricular activities, and they can work productively and have a family when you reach adulthood.It is necessary to configure A full active lifestyle and encourage it!

Article courtesy of a worldwide organization IPOPI, working to improve the lives of people with primary immunodeficiency.
Copyright 2007 owned fund Immune Deficiency Foundation, USA."Guidelines for the primary immunodeficiency diseases for patients and their families", from which the material is taken under the license, was developed Immune Deficiency Foundation with support from Baxter Healthcare Corporation.

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