Abstract
Hereditary genetic X-linked disease Fabry’s disease belongs to the group of lysosomal accumulation diseases and is caused by mutations in the GLA gene and is characterized by a decrease in functional activity or complete absence of the enzyme α-galactosidase A. This pathology belongs to the group of orphan diseases. Mutation of the GLA gene leads to the formation of defective forms of the enzyme α-galactosidase A, which contributes to the violation of the catabolism of glycosphingolipids, their further accumulation in the lysosomes of various cell cultures, and the development of lysosomal cell dysfunction. The prevalence of Fabry disease is about 1 in 117,000 live-born boys. According to screening studies in newborns, this figure can be about 1 in 3,100 and affects to the same extent representatives of all ethnic groups. Fabri’s disease has become actively studied in Russia, but more than 5,000 people (according to estimates) remain undiagnosed. In the first place among the causes of death in Fabry’s disease is heart disease, in particular left ventricular hypertrophy with the subsequent development of diastolic dysfunction and heart failure. Heart rhythm disorders are often observed. Early diagnosis of Fabri disease will lead to the appointment of genotype-specific enzyme replacement therapy and reduce the risk of cardiovascular complications.
Highlights
Summary Hereditary genetic X-linked disease Fabry’s disease belongs to the group of lysosomal accumulation diseases and is caused by mutations in the GLA gene and is characterized by a decrease in functional activity or complete absence of the enzyme α-galactosidase A. This pathology belongs to the group of orphan diseases
Mutation of the GLA gene leads to the formation of defective forms of the enzyme α-galactosidase A, which contributes to the violation of the catabolism of glycosphingolipids, their further accumulation in the lysosomes of various cell cultures, and the development of lysosomal cell dysfunction
Diagnosis of Fabri disease will lead to the appointment of genotype-specific enzyme replacement therapy and reduce the risk of cardiovascular complications
Summary
Распространенность болезни Фабри составляет около одного случая на 117 тысяч живорожденных мальчиков. Summary Hereditary genetic X-linked disease Fabry’s disease belongs to the group of lysosomal accumulation diseases and is caused by mutations in the GLA gene and is characterized by a decrease in functional activity or complete absence of the enzyme α-galactosidase A. This pathology belongs to the group of orphan diseases. В настоящий момент открыта новая мутация гена GLA – p.lle239Met, ассоциированная с кардиологическим фенотипом заболевания, характеризующаяся наличием у пациента гипертрофической кардиомиопатии, гипертрофии левого желудочка и повышением в крови уровня lyso-Gb3 [6]
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