Tuberous sclerosis complex
<p>Tuberous sclerosis complex is a genetic disorder with a characteristic development of a benign tumorous growth in various tissues. Clinical picture is very heterogeneous, resulting in difficult diagnosis and unrecognized patients. In this article, we present pathophysiological basis for und...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
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Slovenian Medical Association
2014-05-01
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| Series: | Zdravniški Vestnik |
| Subjects: | |
| Online Access: | http://vestnik.szd.si/index.php/ZdravVest/article/view/1193 |
| _version_ | 1811269989941903360 |
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| author | Alexander Jerman Jelka Lindič |
| author_facet | Alexander Jerman Jelka Lindič |
| author_sort | Alexander Jerman |
| collection | DOAJ |
| description | <p>Tuberous sclerosis complex is a genetic disorder with a characteristic development of a benign tumorous growth in various tissues. Clinical picture is very heterogeneous, resulting in difficult diagnosis and unrecognized patients. In this article, we present pathophysiological basis for understanding the clinical picture and the diagnosis of tuberous sclerosis complex. The skin, central nervous system, kidneys and heart are the most commonly affected sites. The disease course is progressive. Although the great majority of lesions are benign, life expectancy and quality of life are affected by their secondary impact. Until recently, the therapy has been only symptomatic, but nowadays the inhibitors of mTOR complex, such as everolimus, are efficient in reducing the growth of tumors.</p> |
| first_indexed | 2024-04-12T21:52:53Z |
| format | Article |
| id | doaj.art-618dbfdd730d4728a2ee6dde86cca841 |
| institution | Directory Open Access Journal |
| issn | 1318-0347 1581-0224 |
| language | English |
| last_indexed | 2024-04-12T21:52:53Z |
| publishDate | 2014-05-01 |
| publisher | Slovenian Medical Association |
| record_format | Article |
| series | Zdravniški Vestnik |
| spelling | doaj.art-618dbfdd730d4728a2ee6dde86cca8412022-12-22T03:15:25ZengSlovenian Medical AssociationZdravniški Vestnik1318-03471581-02242014-05-01834896Tuberous sclerosis complexAlexander Jerman0Jelka Lindič1Klinični oddelek za nefrologijo, Interna klinika, Univerzitetni klinični center Ljubljana, Zaloška 7, 1525 LjubljanaKlinični oddelek za nefrologijo, Interna klinika, Univerzitetni klinični center Ljubljana, Zaloška 7, 1525 Ljubljana<p>Tuberous sclerosis complex is a genetic disorder with a characteristic development of a benign tumorous growth in various tissues. Clinical picture is very heterogeneous, resulting in difficult diagnosis and unrecognized patients. In this article, we present pathophysiological basis for understanding the clinical picture and the diagnosis of tuberous sclerosis complex. The skin, central nervous system, kidneys and heart are the most commonly affected sites. The disease course is progressive. Although the great majority of lesions are benign, life expectancy and quality of life are affected by their secondary impact. Until recently, the therapy has been only symptomatic, but nowadays the inhibitors of mTOR complex, such as everolimus, are efficient in reducing the growth of tumors.</p>http://vestnik.szd.si/index.php/ZdravVest/article/view/1193diagnosisphysiopathologyhamartomaTOR serine-threonine kinaseseverolimus |
| spellingShingle | Alexander Jerman Jelka Lindič Tuberous sclerosis complex Zdravniški Vestnik diagnosis physiopathology hamartoma TOR serine-threonine kinases everolimus |
| title | Tuberous sclerosis complex |
| title_full | Tuberous sclerosis complex |
| title_fullStr | Tuberous sclerosis complex |
| title_full_unstemmed | Tuberous sclerosis complex |
| title_short | Tuberous sclerosis complex |
| title_sort | tuberous sclerosis complex |
| topic | diagnosis physiopathology hamartoma TOR serine-threonine kinases everolimus |
| url | http://vestnik.szd.si/index.php/ZdravVest/article/view/1193 |
| work_keys_str_mv | AT alexanderjerman tuberoussclerosiscomplex AT jelkalindic tuberoussclerosiscomplex |