Misdiagnosed case of transthyretin amyloidosis in a fully investigated patient
The DNA analysis revealed a transthyretin amyloidosis with a rare Phe53Leu mutation in a woman of 62 y.o. with the late onset progressive generalized axonal sensomotor neuropathy, dry eye syndrome, and an episode of severe unintentionally weight loss. The same mutation was found in her healthy 34 y....
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | Russian |
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ABV-press
2018-04-01
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| Series: | Нервно-мышечные болезни |
| Subjects: | |
| Online Access: | https://nmb.abvpress.ru/jour/article/view/263 |
| _version_ | 1797702057419866112 |
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| author | E. S. Naumova S. S. Nikitin T. A. Adyan D. S. Druzhinin V. A. Varshavskiy |
| author_facet | E. S. Naumova S. S. Nikitin T. A. Adyan D. S. Druzhinin V. A. Varshavskiy |
| author_sort | E. S. Naumova |
| collection | DOAJ |
| description | The DNA analysis revealed a transthyretin amyloidosis with a rare Phe53Leu mutation in a woman of 62 y.o. with the late onset progressive generalized axonal sensomotor neuropathy, dry eye syndrome, and an episode of severe unintentionally weight loss. The same mutation was found in her healthy 34 y.o. son, but not in a 42 y.o. daughter. The Congo red staining were negative in nerve and salivar gland biopsies samples. The reassessment of the transthyretin amyloidosis “red flags” showed that the patient fulfilled the criteria of the disease and the absence of amyloid deposition was not the ground to reject the hereditary cause of the condition. The reasons of the misdiagnosis are discussed. |
| first_indexed | 2024-03-12T04:45:43Z |
| format | Article |
| id | doaj.art-2dbd9420a3ae4eb0a4105f26d13fe8e8 |
| institution | Directory Open Access Journal |
| issn | 2222-8721 2413-0443 |
| language | Russian |
| last_indexed | 2024-03-12T04:45:43Z |
| publishDate | 2018-04-01 |
| publisher | ABV-press |
| record_format | Article |
| series | Нервно-мышечные болезни |
| spelling | doaj.art-2dbd9420a3ae4eb0a4105f26d13fe8e82023-09-03T09:28:56ZrusABV-pressНервно-мышечные болезни2222-87212413-04432018-04-0181465210.17650/2222-8721-2018-8-1-46-52198Misdiagnosed case of transthyretin amyloidosis in a fully investigated patientE. S. Naumova0S. S. Nikitin1T. A. Adyan2D. S. Druzhinin3V. A. Varshavskiy4Медицинский центр «Практическая неврология»Медицинский центр «Практическая неврология»ФБГНУ «Медико-генетический научный центр»; ФГБОУ ВО «Российский национальный исследовательский медицинский университет им. Н.И. Пирогова» Минздрава РоссииФГБОУ ВО «Ярославский государственный медицинский университет» Минздрава РоссииФГАОУ ВО Первый Московский государственный медицинский университет им. И.М. Сеченова Минздрава РоссииThe DNA analysis revealed a transthyretin amyloidosis with a rare Phe53Leu mutation in a woman of 62 y.o. with the late onset progressive generalized axonal sensomotor neuropathy, dry eye syndrome, and an episode of severe unintentionally weight loss. The same mutation was found in her healthy 34 y.o. son, but not in a 42 y.o. daughter. The Congo red staining were negative in nerve and salivar gland biopsies samples. The reassessment of the transthyretin amyloidosis “red flags” showed that the patient fulfilled the criteria of the disease and the absence of amyloid deposition was not the ground to reject the hereditary cause of the condition. The reasons of the misdiagnosis are discussed.https://nmb.abvpress.ru/jour/article/view/263амилоидозтранстиретиновый амилоидозphe53leuбиопсия нервасиндром сухого глазасенсомоторная нейропатия |
| spellingShingle | E. S. Naumova S. S. Nikitin T. A. Adyan D. S. Druzhinin V. A. Varshavskiy Misdiagnosed case of transthyretin amyloidosis in a fully investigated patient Нервно-мышечные болезни амилоидоз транстиретиновый амилоидоз phe53leu биопсия нерва синдром сухого глаза сенсомоторная нейропатия |
| title | Misdiagnosed case of transthyretin amyloidosis in a fully investigated patient |
| title_full | Misdiagnosed case of transthyretin amyloidosis in a fully investigated patient |
| title_fullStr | Misdiagnosed case of transthyretin amyloidosis in a fully investigated patient |
| title_full_unstemmed | Misdiagnosed case of transthyretin amyloidosis in a fully investigated patient |
| title_short | Misdiagnosed case of transthyretin amyloidosis in a fully investigated patient |
| title_sort | misdiagnosed case of transthyretin amyloidosis in a fully investigated patient |
| topic | амилоидоз транстиретиновый амилоидоз phe53leu биопсия нерва синдром сухого глаза сенсомоторная нейропатия |
| url | https://nmb.abvpress.ru/jour/article/view/263 |
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