Neuromuscular DiseasesNeuromuscular DiseasesНервно-мышечные болезни2222-87212413-0443Publishing House ABV Press19810.17650/2222-8721-2017-7-1-54-61CLINICAL CASEКЛИНИЧЕСКИЙ РАЗБОРFamilial amyloid polyneuropathy TTR Cys 114 in monozygotic twin brothers (clinical case)Семейная амилоидная полинейропатия TTR Cys 114 у монозиготных братьев-близнецов (клинический случай)KovalchukM. O.КовальчукМ. О.
Netherlands

Utrecht, Netherlands

Нидерланды, Утрехт

mafkov@mail.ruStrokovI. A.СтроковИ. А.
Russian Federation

Build. 2, 8 Trubetskaya St., Moscow 119991, Russia

Россия, 119991 Москва, ул. Трубецкая, 8, стр. 2

University Medical Center UtrechtУниверситетский медицинский центр УтрехтаI.M. Sechenov First Moscow State Medical University, Ministry of Health of RussiaФГАОУ ВО Первый Московский государственный медицинский университет им. И. М. Сеченова Минздрава России070520177154610705201707052017Copyright ©; 2017, Kovalchuk M.O., Strokov I.A.Copyright ©; 2017, Ковальчук М.О., Строков И.А.2017Kovalchuk M.O., Strokov I.A.Ковальчук М.О., Строков И.А.https://creativecommons.org/licenses/by/4.0https://nmb.abvpress.ru/jour/article/view/198

Transthyretin amyloidosis (ATTR) is a hereditary autosomal dominant disease. Its symptoms depend on polymorphisms of the transthyretin gene and include disorders of the peripheral nervous system and internal organs. One of the rarest mutations of the transthyretin gene is tyrosine substitution for cysteine in position 114 (Tyr114Cys). One of the described characteristics of ATTR is the discordant phenotype in monozygotic twins. We present a case of ATTR Cys 114 in a Russian family with a pair of monozygotic twins discordant for ATTR.

Транстиретиновый амилоидоз (transthyretin amyloidosis, ATTR) – наследственное аутосомно-доминантное заболевание, проявления которого зависят от полиформизма гена транстиретина и включают поражение периферической нервной системы и внутренних органов. К наиболее редким мутациям гена транстиретина относится замена цистеина на тирозин в позиции 114 (Tyr114Cys). Одной из описанных особенностей течения ATTR является дискордантность симптоматики у монозиготных близнецов. Представлен случай ATTR Cys 114 в российской семье у монозиготных братьев-близнецов, дискордантных по течению данного заболевания.

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