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In addition to genetic susceptibility to autoimmune syndromes, a specific trigger is often the cause. It can be: infections; certain foods (such as gluten - gluten); chemical impact; medicines; extreme physical stress; physical injury. APS-I is a rare childhood disorder occurring in children, endemic in some families, especially in Iran and Finland, affecting boys and girls. APS-II is more common than APS-I, affecting more women than men (3-4:1). As a rule, the disease is found in adults, the highest incidence is recorded after 50 years. Due to the increase in the number of autoimmune diseases in the population, the frequency of APS-II is steadily increasing.
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But the disease does not necessarily manifest itself clinically if the lesion of the gland is less than 80-90%. APS is more common in children, but often occurs in adulthood. The first signs indicating the presence of the disease are fatigue, cardiovascular, metabolic symptoms, impaired response to stress. Symptoms depend on the type of tenormin pills polyglandular syndrome.
Autoimmune polyglandular syndrome type 1 is an example of a monogenic autoimmune disease with autosomal recessive inheritance.
It is also known as Johanson-Blizzard syndrome. The disease is characterized by impaired central tolerance and negative selection in the thymus, which leads to the release of autoreactive T-lymphocytes in the blood, destruction of endocrine target organs.
Autoimmune polyglandular syndrome type 1 is caused by a mutation in the AIRE gene, located on the 21st chromosome, encoding a protein of 545 amino acids. Thisthe gene appeared about 500 million years ago, before the formation of adaptive immunity. Its central role is the prevention of autoimmune diseases.
Mutation of the AIRE gene is the most important finding in the diagnosis of the disease. Today, more than 60 different mutations have been found. Autoantigens are typical intracellular enzymes; the most typical of these is tryptophan hydroxylase (TPH), which is expressed by cells that produce serotonin in the intestinal mucosa. Autoantibodies to TPG are found in approximately 50% of patients, respond to intestinal malabsorption.
Also, patients have a high level of antibodies to interferons (these antibodies are a specific marker of the disease).
Autoimmune polyendocrine syndrome type 1 is a rare disease that affects women and men almost equally. The disease occurs in childhood, but there are cases when symptoms of hypoparathyroidism occur after 50 years, and Addison's disease follows after 5-10 years.
The following autoimmune diseases and their manifestations.
