X-clutch agammaglobulinemia: diagnosis & treatment

Health And Medical Video: Clutch - X-Ray Visions (November 2018).

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

Clinical manifestations

Patients with X-linked agammaglobulinemia (X-CA) are susceptible to infections due to lack of antibodies. These infections often develop on the surface or near the surface of the mucous membranes, for example in the middle ear, subarachnoid sinuses and lungs, but in some cases the infection can affect circulating blood or internal organs.

As a result, patients with X-SA develop infections of the paranasal sinuses (sinusitis), eyes (conjunctivitis), ears (otitis), nose (rhinitis), intracranial respiratory tract (bronchitis) or the lungs themselves (pneumonia). Infection of the gastrointestinal tract, in particular, caused by Giardia intestinal gland, is also possible. Intestinal lamblia can cause abdominal pain, diarrhea, growth retardation or loss of blood proteins, such as gamma globulin.

Some patients with X-CA are also prone to cutaneous infections. In the absence of antibodies, each of these infections can enter the bloodstream and spread to other organs deep into the body, such as bones, joints or the brain.

In patients with X-CA, infections are usually caused by microorganisms that are very rapidly destroyed or inactivated by antibodies in healthy people. Pathogens such infections most often include pneumococcus, streptococcus, staphylococcus or Haemophilus influenzae.

Some special types of viruses can also cause severe infection in these patients. In the physical examination, in the majority of patients with X-CA, there are very small tonsils and lymph nodes (cervical glands). This is due to the fact that tonsils and lymph nodes mainly consist of B-lymphocytes. In the absence of B-lymphocytes, these tissues are reduced.

diagnosis

The diagnosis of X-CA should be taken into account when examining any boy with recurrent or severe bacterial infections, especially with a small size or absence of tonsils and lymph nodes.

The first screening study should be the determination of serum immunoglobulins. In most cases, X-CA shows a significant decrease or absence of immunoglobulins (IgG, IgM and IgA). However, there are exceptions: some patients retain some levels of IgM or IgG.

In addition, newborns during the first months of life normally develop only small amounts of immunoglobulins, which is why it is sometimes difficult to distinguish between a newborn with a normal delay in the production of immunoglobulins from a newborn with true immune deficiency.

If the level of serum immunoglobulins is low or the doctor has a serious suspicion that the patient suffers from X-CA, the number of B cells in the peripheral blood should be determined. A low percentage (almost absent) of B-cells in the blood is the most characteristic and reliable laboratory characteristic of X-SA. If the brother of a newborn boy, or mother's cousin or mother's mother suffers from X-CA, this newborn is at risk for X-CA, and his family and doctors should immediately determine the percentage of B-cells in the blood to start treatment before the child becomes ill..

The X-CA diagnosis can be confirmed by the absence of BTK protein in monocytes or platelets, or by the detection of BTK mutation in DNA. Almost every family has its own specific BTK mutation, but members of the same family usually have the same mutation.

Inheritance

X-adhesion of agammaglobulinemia (X-CA) is a genetic disorder that can be inherited and be family-friendly. It is inherited as a recessive trait linked to the X-chromosome.

It is important to know the type of inheritance so that family members better understand why a child has fallen ill, who is at risk for the disease in subsequent children, and what matters to other family members.

After identifying the X-CA gene, it became possible to examine the sisters of the X-CA patient and other female members of the family, such as the mother's mother's nursing sisters, to determine if they are carriers of the disease.

In carriers of X-CA, the disease does not manifest, but they can pass it on to their sons with a probability of 50%. In some cases it is also possible to detect X-CA in the fetus before birth. Currently, these genetic studies are conducted only in several laboratories.

treatment

There are currently no methods for treating patients with X-linked agammaglobulinemia (X-CA). A defective gene can not be corrected or replaced, and maturation of B-lymphocyte precursors into B-lymphocytes and plasma cells can not be stimulated.

However, patients with X-SA can enter some of their missing antibodies. These antibodies are in the form of immunoglobulins (or gamma globulins) and can be injected directly into the bloodstream (intravenously) or under the skin. Immunoglobulin preparations contain antibodies that will replace antibodies that the body of the patient X-CA can not produce independently. They contain antibodies to a wide range of microorganisms.

Immunoglobulins are particularly effective in preventing the spread of infection in the bloodstream and deep internal organs or tissues. Some patients receive antibiotics everyday for protection against infection or for the treatment of chronic sinusitis or bronchitis. Patients with X-CA should not be vaccinated on the basis of live viruses, for example, a live anti-myelitis vaccine, and also received a measles, mumps and rubella vaccine (KSK).

There is a small likelihood that live vaccines (especially oral anti-polio myelitis vaccine) in patients with agammagubulinemia can be the source of those diseases for which they are being developed.

forecast

Most patients with X-linked agammaglobulinemia (X-CA) regularly receive immunoglobulins that are able to lead to a relatively normal life. They do not require isolation or limitation of activity.

Active sports team competitions should be encouraged. From time to time, infections may require special attention, but children from the X-CA can participate in all school and out-of-school activities, and when they reach the age they can work productively and have a family. It is necessary to adjust the child to a fully active lifestyle and encourage him!

The article is kindly provided by the world-wide organization IPOPI, which works to improve the lives of people with primary immunodeficiency. Copyright 2007 belongs to the Immune Deficiency Foundation, USA. The "Manual for Primary Immunodeficiency Diseases for Patients and Their Families", from which this material was taken under license, was developed by the Immune Deficiency Foundation with the support of Baxter Healthcare Corporation.

X-clutch agammaglobulinemia: diagnosis & treatment
Category Of Medical Issues: Diseases