| Description: |
Alport Syndrome (AS) is a heterogeneous progressive disease characterized by nephritic syndrome, often sensorineural deafness, and less frequently ophthalmological symptoms. There are autosomal dominant, autosomal recessive, and X-linked AS. he prevalence of Alport syndrome averages 1:5,000-10,000 newborns. The disease is caused by pathogenic and likely pathogenic variants in genes encoding α3, α4, and α5 chains of type IV collagen (COL4A3, COL4A4, COL4A5). Pathological variants in these genes account for 20-30% of chronic kidney diseases and end-stage renal disease in adulthood among inherited nephropathies. There were examined 327 unrelated patients, for 130 of whom the diagnosis was confirmed. X-linked inheritance was identified in 47%, autosomal recessive in 6.9% of cases, and autosomal dominant in 39.2%, what differs from the distribution structure of AS forms in the world. Repeating variants matching the literature data have been identified in all three genes. There was no clear correlation between the more severe course and the type of mutation in any of the genes. ; Синдром Альпорта (СА) – гетерогенное прогрессирующее заболевание, характеризующееся нефритическим синдромом, часто нейросенсорной глухотой и реже офтальмологическими симптомами. Различают аутосомно-доминантный, аутосомнорецессивный и Х-сцепленный СА. Распространенность синдрома в среднем составляет 1:5 000 – 10 000 новорожденных. Заболевание обусловлено патогенными и вероятно патогенными вариантами в генах α3, α4 и α5 цепей коллагена IV типа (COL4A3, COL4A4, COL4A5). Патогенные изменения этих генов у взрослых встречаются в 20-30% случаев хронической болезни почек и терминальной почечной недостаточности. Методом панельного секвенирования было обследовано 327 неродственных больных, у 130 из которых диагноз был подтверждён. Х-сцепленный тип наследования выявлен в 47%, аутосомно-рецессивный – в 6,9%, аутосомно-доминантный – в 39,2% случаев, что отличается от структуры распределения форм СА в мире. Во всех трёх генах выявлены повторяющиеся ... |
| Relation: |
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