Consilium MedicumConsilium MedicumConsilium MedicumConsilium Medicum2075-17532542-2170Consilium Medicum9509010.26442/2075-1753_2018.9.58-62ArticlesСтатьиResearch ArticleThe case of transthyretin familial amyloid polyneuropathy: diagnostic searchСлучай транстиретиновой семейной амилоидной полинейропатии: диагностический поискSmirnovA. PСмирновАндрей Павлович

канд. мед. наук, доц. каф. неврологии, нейрохирургии и медицинской генетики

SerdyukA. VСердюкАнна Владимировна

канд. мед. наук, ассистент каф. неврологии, нейрохирургии и медицинской генетики

KovrazhkinaE. AКовражкинаЕлена Анатольевна

канд. мед. наук, ст. науч. сотр. НИИ цереброваскулярной патологии и инсульта

elekov2@yandex.ruN.I.Pirogov Russian National Research Medical University of the Ministry of Health of the Russian FederationФГБОУ ВО «РНИМУ им. Н.И.Пирогова»15092018209VOL 20, NO9 (2018)ТОМ 20, №9 (2018)586228122021Copyright ©; 2018, Consilium MedicumCopyright ©; 2018, ООО "Консилиум Медикум"2018Consilium MedicumООО "Консилиум Медикум"https://creativecommons.org/licenses/by-nc-sa/4.0https://consilium.orscience.ru/2075-1753/article/view/95090

Transthyretin familial amyloid polyneuropathy (TTR-FAP) is rare hereditary degenerative disease. It is based on the deposition of amiloid in the peripheral nerves, which leads to axonal degeneration. The disease is demonstrate steadily progressing sensomotor and autonomic polyneuropathy. In non-endemic regions and in the absence of a family history, the diagnostics is very difficult and it takes a long time. Most often it is difficult to make a differential diagnosis between TTR-FAP and chronic inflammatory demyelinating polyneuropathy. The case of TTR-FAP in a patient with a genetically confirmed mutation Phe53Leu in the gene of transtyretin shows a diagnostic search for a given disease.

Транстиретиновая семейная амилоидная полинейропатия (ТТР-САП) - редкое наследственное нейродегенеративное заболевание, в основе которого лежит отложение амилоида в периферических нервах, что ведет к аксональной дегенерации. Заболевание проявляется неуклонно прогрессирующей сенсомоторной и автономной полинейропатией. В неэндемичных областях и при отсутствии семейного анамнеза постановка диагноза может быть значительно затруднена и растягиваться на длительное время. Наиболее часто возникают диагностические трудности при дифференциальной диагностике ТТР-САП с хронической воспалительной демиелинизирующей полинейропатией. Представляем случай ТТР-САП у пациентки с генетически подтвержденной мутацией Phe53Leu в гене транстиретина, демонстрирующий диагностический поиск при данном заболевании.

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