COVID 19 in a family with rare genetic disease of the nervous system
We present familial tuberous sclerosis (TS) case complicated by COVID-19. COVID-19 aggravates the course of TS and may lead to a fatal outcome. We review the role of mTORC1 (mechanistic/mammalian Target of Rapamycin Complex 1) in the development and functions of the nervous system and the pathogenes...
| Main Authors: | , , |
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| Format: | Article |
| Language: | Russian |
| Published: |
IMA-PRESS LLC
2022-02-01
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| Series: | Неврология, нейропсихиатрия, психосоматика |
| Subjects: | |
| Online Access: | https://nnp.ima-press.net/nnp/article/view/1759 |
| _version_ | 1797876323454025728 |
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| author | M. Yu. Martynov V. A. Kutashov O. V. Ulyanova |
| author_facet | M. Yu. Martynov V. A. Kutashov O. V. Ulyanova |
| author_sort | M. Yu. Martynov |
| collection | DOAJ |
| description | We present familial tuberous sclerosis (TS) case complicated by COVID-19. COVID-19 aggravates the course of TS and may lead to a fatal outcome. We review the role of mTORC1 (mechanistic/mammalian Target of Rapamycin Complex 1) in the development and functions of the nervous system and the pathogenesis of TS and COVID-19 with emphasis on the involvement of the brain and lungs. We observed that COVID-19 worsens the course of epilepsy in patients with TS. In TS patients, lymphangioleiomyomatosis may predispose to SARS-CoV-2 invasion into the respiratory system because of the increased expression of ACE2 and TMPRSS2 in type II pneumocytes and thus may worsen the prognosis. We also review the current data on the continuation/termination of everolimus administration in patients with TS associated with COVID-19. |
| first_indexed | 2024-04-10T02:01:25Z |
| format | Article |
| id | doaj.art-e55671a9466243609f4887197b821867 |
| institution | Directory Open Access Journal |
| issn | 2074-2711 2310-1342 |
| language | Russian |
| last_indexed | 2024-04-10T02:01:25Z |
| publishDate | 2022-02-01 |
| publisher | IMA-PRESS LLC |
| record_format | Article |
| series | Неврология, нейропсихиатрия, психосоматика |
| spelling | doaj.art-e55671a9466243609f4887197b8218672023-03-13T08:42:22ZrusIMA-PRESS LLCНеврология, нейропсихиатрия, психосоматика2074-27112310-13422022-02-0114110811410.14412/2074-2711-2022-1-108-1141242COVID 19 in a family with rare genetic disease of the nervous systemM. Yu. Martynov0V. A. Kutashov1O. V. Ulyanova2N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia; Federal Center of Brain and Neurotechnologies, FMBA of RussiaN.N. Burdenko Voronezh State Medical University, Ministry of Health of RussiaN.N. Burdenko Voronezh State Medical University, Ministry of Health of RussiaWe present familial tuberous sclerosis (TS) case complicated by COVID-19. COVID-19 aggravates the course of TS and may lead to a fatal outcome. We review the role of mTORC1 (mechanistic/mammalian Target of Rapamycin Complex 1) in the development and functions of the nervous system and the pathogenesis of TS and COVID-19 with emphasis on the involvement of the brain and lungs. We observed that COVID-19 worsens the course of epilepsy in patients with TS. In TS patients, lymphangioleiomyomatosis may predispose to SARS-CoV-2 invasion into the respiratory system because of the increased expression of ACE2 and TMPRSS2 in type II pneumocytes and thus may worsen the prognosis. We also review the current data on the continuation/termination of everolimus administration in patients with TS associated with COVID-19.https://nnp.ima-press.net/nnp/article/view/1759tuberous sclerosisbrainepilepsylymphangioleiomyomatosiscovid-19sars-cov-2mtorc1rapamycineverolimus |
| spellingShingle | M. Yu. Martynov V. A. Kutashov O. V. Ulyanova COVID 19 in a family with rare genetic disease of the nervous system Неврология, нейропсихиатрия, психосоматика tuberous sclerosis brain epilepsy lymphangioleiomyomatosis covid-19 sars-cov-2 mtorc1 rapamycin everolimus |
| title | COVID 19 in a family with rare genetic disease of the nervous system |
| title_full | COVID 19 in a family with rare genetic disease of the nervous system |
| title_fullStr | COVID 19 in a family with rare genetic disease of the nervous system |
| title_full_unstemmed | COVID 19 in a family with rare genetic disease of the nervous system |
| title_short | COVID 19 in a family with rare genetic disease of the nervous system |
| title_sort | covid 19 in a family with rare genetic disease of the nervous system |
| topic | tuberous sclerosis brain epilepsy lymphangioleiomyomatosis covid-19 sars-cov-2 mtorc1 rapamycin everolimus |
| url | https://nnp.ima-press.net/nnp/article/view/1759 |
| work_keys_str_mv | AT myumartynov covid19inafamilywithraregeneticdiseaseofthenervoussystem AT vakutashov covid19inafamilywithraregeneticdiseaseofthenervoussystem AT ovulyanova covid19inafamilywithraregeneticdiseaseofthenervoussystem |