Wiskott-Aldrich syndrome refers to hereditary ailments that affect only boys. It manifests itself already in early childhood and, as a rule, leads to death in five to ten years.
This disease was first described in 1937 by a German pediatrician Wiskott. He observed it in three siblings who suffered from persistent bloody diarrhea, eczema, and persistent ear inflammation, although the four sisters were completely healthy. Already in 1954, an American pediatrician by the name of Aldrich established that this disease is inherited as an X-linked recessive trait.
The disease is transmitted to boys, and the carrier of the mutating chromosome is women. The geographical factor does not affect the prevalence of the problem.
Symptoms and course of the disease
Wiskott-Aldrich Syndrome is associated with a reduced platelet count. In the first years of life, the patient has the following symptoms: poor blood coagulation, ongoing eczema, bloody diarrhea. Subsequently, a primary immunodeficiency state is observed . Due to the lack of T- and B-lymphocytes, a person is susceptible to all kinds of viral and bacterial diseases. Immunodeficiency conditions in children provoke constant inflammation of the middle ear, pneumonia, sinusitis, dropsy, and many other serious diseases. Those suffering from this disease have a much higher risk of developing oncology. It should be noted that adults are more often affected by malignant neoplasms.
In patients with Wiskot-Aldrich syndrome, very often only hemorrhagic syndrome is observed , which leads to an incorrect diagnosis. In such cases, only after DNA analysis, in which you can identify the gene responsible for this syndrome, the correct treatment is prescribed.
Diagnostics
- A complete blood count to detect a decrease in platelet count.
- Examination of a blood smear for structural inferiority of platelets.
- Genetic analysis (carried out to detect mutations in the gene responsible for the structure of the protein in the blood).
- Determination of the level of immunoglobulin.
- Conducting prenatal diagnosis to detect Wiskott-Aldrich syndrome in the early stages of pregnancy.
- Determination of the Wiskott-Aldrich protein level in the blood.
Treatment
Unfortunately, modern science has not yet found a cure for this serious illness. Platelets are known to be destroyed in the spleen, so this organ was removed in patients who were diagnosed with Wiskott-Aldrich syndrome. And patients began to feel much better. Continuous transfusion of immunoglobulin and the appointment of appropriate antibiotics also improves the general condition of the patient. Currently, the practice of introducing patients into the bone marrow of healthy stem cells. But for now, this method is carried out only experimentally. Also, couples in whom this syndrome was observed in the family, it is recommended to pass all the necessary tests before planning pregnancy.