Neuromuscular DiseasesNeuromuscular DiseasesНервно-мышечные болезни2222-87212413-0443Publishing House ABV Press34910.17650/2222-8721-2019-9-4-12-25LECTURES AND REVIEWSЛЕКЦИИ И ОБЗОРЫHereditary transthyretin amyloidosisНаследственный транстиретиновый амилоидозhttps://orcid.org/0000-0002-7714-9538AdyanT. A.АдянТ. А.
Russian Federation

1 Moskvorech’e St., Moscow 115522; 1 Ostrovityanova St., Moscow 117997

Адян Тагуи Аветиковна

115522 Москва, Москворечье, 1; 117997 Москва, Островитянова, 1

tagui.adyan@yandex.ruhttps://orcid.org/0000-0002-0105-1833PolyakovA. V.ПоляковА. В.
Russian Federation

1 Moskvorech’e St., Moscow 115522

115522 Москва, Москворечье, 1

Research Centre for Medical Genetics named after academician N. P. Bochkov, Ministry of Education and Science of the Russian FederationФГБНУ «Медико-генетический научный центр имени академика Н. П. Бочкова» Минобрнауки РоссииPirogov Russian National Research Medical University, Ministry of Health of RussiaФГБОУ ВО «Российский национальный исследовательский медицинский университет имени Н. И. Пирогова» Минздрава России100120209412251001202010012020Copyright ©; 2020, Adyan T.A., Polyakov A.V.Copyright ©; 2020, Адян Т.А., Поляков А.В.2020Adyan T.A., Polyakov A.V.Адян Т.А., Поляков А.В.https://creativecommons.org/licenses/by/4.0https://nmb.abvpress.ru/jour/article/view/349

Hereditary transthyretin amyloidosis is described in this review, including the TTR gene structure and mutation spectrum, the transthyretin protein structure and functions, the main clinical manifestations of transthyretin amyloidosis. Also the problems of differential diagnosis are discussed, the history of the spread of the disease among various ethnic groups is examined, information is provided on the current possibilities of pathogenetic and etiological treatment of the disease.

Представлен обзор литературы по наследственному транстиретиновому амилоидозу: описаны структура и спектр мутаций гена TTR, структура и функции белка транстиретина, охарактеризованы основные клинические проявления транстиретинового амилоидоза, обсуждены вопросы дифференциальной диагностики, рассмотрена история распространения заболевания среди различных этнических групп, даны сведения о современных возможностях патогенетического и этиологического лечения заболевания.

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