avkАрхивъ внутренней медициныThe Russian Archives of Internal Medicine2226-67042411-6564“SINAPS” LLC10.20514/2226-6704-2021-11-3-229-240avk-1240Research ArticleРАЗБОР КЛИНИЧЕСКИХ СЛУЧАЕВANALYSIS OF CLINICAL CASESКлинический случай наследственного транстиретинового амилоидозаA Clinical Case of the Hereditary Transthyretin Amyloidosishttps://orcid.org/0000-0001-7479-418XРезникЕ. В.ReznikE. V.

Елена Владимировна Резник 

Москва

Elena V. Reznik 

Moscow

elenaresnik@gmail.comhttps://orcid.org/0000-0002-8856-4542НгуенТ. Л.NguyenT. L.

Москва

Moscow

БорисовскаяС. В.BorisovskayaS. V.

Москва

Moscow

https://orcid.org/0000-0003-2314-6523БрылевЛ. В.BrylevL. V.

Москва

Moscow

https://orcid.org/0000-0003-1436-6145ЖелнинА. В.ZhelninA. V.

Пермь

Perm

https://orcid.org/0000-0001-5088-2855СексяевН. Е.SeksyaevN. E.

Пермь

Perm

ФГАОУ ВО РНИМУ им. Н.И. Пирогова МЗ РФ; ГБУЗ ГКБ им. В.М. Буянова ДЗМ; ГБУЗ ГКБ им. В.П. Демихова ДЗМ; ГБУЗ ГКБ № 31 ДЗМРоссияRussian National Research Medical University (RNRMU) n.a. N.I. Pirogov; City Clinical Hospital n.a. V.M. Buyanov of Healthcare Department of Moscow; City Clinical Hospital n.a. V.P. Demikhov of Healthcare Department of Moscow; City Clinical Hospital № 31 of Healthcare Department of MoscowRussian FederationФГАОУ ВО РНИМУ им. Н.И. Пирогова МЗ РФРоссияRussian National Research Medical University (RNRMU) n.a. N.I. PirogovRussian FederationФГАОУ ВО РНИМУ им. Н.И. Пирогова МЗ РФ; ГБУЗ ГКБ им. В.М. Буянова ДЗМРоссияRussian National Research Medical University (RNRMU) n.a. N.I. Pirogov; City Clinical Hospital n.a. V.M. Buyanov of Healthcare Department of MoscowRussian FederationГБУЗ ГКБ им. В.М. Буянова ДЗМРоссияCity Clinical Hospital n.a. V.M. Buyanov of Healthcare Department of MoscowRussian FederationФГБОУ ВО Пермский государственный медицинский университет имени ак. Е.А. Вагнера Минздрава РоссииРоссияPerm State Medical University named after Academician E.A. Wagner Ministry of Health of RussiaRussian FederationГБУЗ ПК «Ордена «Знак Почёта» Пермская краевая клиническая больницаРоссияPerm Regional Clinical HospitalRussian Federation202131052021113229240Copyright © Резник Е.В., Нгуен Т.Л., Борисовская С.В., Брылев Л.В., Желнин А.В., Сексяев Н.Е., 20212021Резник Е.В., Нгуен Т.Л., Борисовская С.В., Брылев Л.В., Желнин А.В., Сексяев Н.Е.Reznik E.V., Nguyen T.L., Borisovskaya S.V., Brylev L.V., Zhelnin A.V., Seksyaev N.E.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.medarhive.ru/jour/article/view/1240

Введение: транстиретиновый (АTTR) амилоидоз является тяжелым редким заболеванием с широким спектром неспецифических проявлений, в т.ч. поражением периферической нервной системы и сердца. Клинический случай: пациентку 60 лет в течение 2 лет беспокоили парестезии и слабость в дистальных отделах нижних конечностей, затрудняющая ходьбу. Первоначально симптомы рассматривались как проявление дегенеративного стеноза поясничного отдела позвоночника, выполнена декомпрессионная ламинэктомия, несмотря на которую симптоматика сохранялась. На основании данных клинического и электронейромиографического обследований, диагностирована аксональная сенсомоторная полиневропатия. При генетическом тестировании 4 членов семьи (пациентки, ее старшей сестры с сыном и дочерью) выявлен вариант нуклеотидной последовательности в четвертом экзоне гена транстиретина (Chr18: 29178562, rs148538950, NM_000371.3:c. G368A:p. Arg123His) в гетерозиготном состоянии. При исследовании нативных препаратов жировой клетчатки живота при окраске Конго красным и исследовании в поляризованном свете в единичных полях зрения выявлены микродепозиты амилоида, grade CR 1+ (минимальные отложения). При эхокардиографии выявлено утолщение стенок левого желудочка с нормальными конечнодиастолическим размером и объемом и сохраненной фракцией выброса, дилатацией левого предсердия, умеренной легочной гипертензией и диастолической дисфункцией типа 1. Пациентке рекомендовано начать специфическую антиамилоидную терапию — тафамидис. Заключение. У больных с поражением периферической нервной системы и утолщением стенок левого желудочка неясной этиологии необходимо комплексное обследование для своевременной диагностики и адекватной терапии амилоидной полинейропатии и кардиомиопатии.

Introduction: Transthyretin (ATTR) amyloidosis is a severe rare disease with wide range of characters without specific symptoms including the damage to the peripheral nervous system and cardiac involvement. Case report: A 60-year-old female patient represented with weakness and paresthesia in the distal parts of the lower limbs, impeding walking for 2 years. Initially, symptoms were considered as a manifestation of degenerative stenosis of the lumbar spine, decompressive laminectomy was performed but the symptoms after surgical treatment persisted. Based on data from clinical and electroneuromyographic examinations, axonal sensorimotor polyneuropathy was diagnosed. Genetic testing of the patient, her elder sister, son and daughter using the Sanger sequencing method detected a variant of the nucleotide sequence in the fourth exon of the transthyretin gene (Chr18: 29178562, rs148538950, NM_000371.3: c.G368A: p. Arg123His) in the heterozygous state. A subcutaneous fatty tissue biopsy of abdominal wall with a Congo red stain and polarized light examination revealed amyloid microdeposits, grade CR 1+ (minimal deposits), confirmed the diagnosis of familial ATTR-amyloidosis. Echocardiography revealed concentric left ventricular wall thickening with normal end diastolic size and volume, preserved ejection fraction, left atrial enlargement, pulmonary hypertension and type 1 diastolic dysfunction. Specific anti-amyloid therapy — tafamidis was prescribed. Conclusion: In patients with peripheral polyneuropathy and left ventricular hypertrophy of unknown etiology, a complex examination is necessary for the timely detection and treatment of amyloid polyneuropathy and cardiomyopathy.

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The authors declare that there are no conflicts of interest present.