Everolimus in the treatment of giant renal angiomyolipoma associated with tuberous sclerosis
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Publication Date: | 2016 |
Other Authors: | , , , , , , |
Format: | Article |
Language: | eng |
Source: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Download full: | http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692016000200009 |
Summary: | Tuberous sclerosis complex is an autosomal dominant disorder characterized by the development of multiple tumours in distinct organs, although the ones most frequently affected are the skin, central nervous system, kidney, lung and liver. The kidney is the third most frequently affected organ, and angiomyolipomas are the most common lesions. Two-thirds of patients have sporadic mutations of the genes responsible for the disease, called tuberous sclerosis complex 1 and 2, encoding hamartin and tuberin, respectively. Hamartin and tuberin are tumoural suppressor proteins that are engaged in the control of cell proliferation and differentiation. When the tuberous sclerosis complex 1-2 suffers mutation, the mammalian target of rapamycin complex 1 pathway is constitutively activated, leading to neoplastic growth. Everolimus is a drug that inhibits mammalian target of rapamycin pathway and it is being used successfully in the treatment of renal angiomyolipomas associated with tuberous sclerosis complex. The authors report a case of a 34-year-old woman with tuberous sclerosis and giant renal angiomyolipoma, who received everolimus 10 mg daily for 6 months, but this was not associated with a reduction in the angiomyolipoma volume. This case describes the use of a systemic therapy in a rare genetic disorder. Although the treatment with everolimus did not reduce the patients renal angiomyolipoma volume and, thus, was apparently ineffective, no new lesions, bleeding episodes or deterioration of the kidney function were observed, suggesting that everolimus may have prevented disease progression |
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Everolimus in the treatment of giant renal angiomyolipoma associated with tuberous sclerosisEverolimusrenal angiomyolipomatuberous sclerosisTuberous sclerosis complex is an autosomal dominant disorder characterized by the development of multiple tumours in distinct organs, although the ones most frequently affected are the skin, central nervous system, kidney, lung and liver. The kidney is the third most frequently affected organ, and angiomyolipomas are the most common lesions. Two-thirds of patients have sporadic mutations of the genes responsible for the disease, called tuberous sclerosis complex 1 and 2, encoding hamartin and tuberin, respectively. Hamartin and tuberin are tumoural suppressor proteins that are engaged in the control of cell proliferation and differentiation. When the tuberous sclerosis complex 1-2 suffers mutation, the mammalian target of rapamycin complex 1 pathway is constitutively activated, leading to neoplastic growth. Everolimus is a drug that inhibits mammalian target of rapamycin pathway and it is being used successfully in the treatment of renal angiomyolipomas associated with tuberous sclerosis complex. The authors report a case of a 34-year-old woman with tuberous sclerosis and giant renal angiomyolipoma, who received everolimus 10 mg daily for 6 months, but this was not associated with a reduction in the angiomyolipoma volume. This case describes the use of a systemic therapy in a rare genetic disorder. Although the treatment with everolimus did not reduce the patients renal angiomyolipoma volume and, thus, was apparently ineffective, no new lesions, bleeding episodes or deterioration of the kidney function were observed, suggesting that everolimus may have prevented disease progressionSociedade Portuguesa de Nefrologia2016-06-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articletext/htmlhttp://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692016000200009Portuguese Journal of Nephrology & Hypertension v.30 n.2 2016reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAPenghttp://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692016000200009Oliveira,MiguelCosta,Marta SofiaBarra,TiagoSilva,AndreiaSousa,TâniaRodrigues,JoanaCosta,FilipaLemos,Sérgioinfo:eu-repo/semantics/openAccess2024-02-06T17:04:52Zoai:scielo:S0872-01692016000200009Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T02:18:56.811677Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Everolimus in the treatment of giant renal angiomyolipoma associated with tuberous sclerosis |
title |
Everolimus in the treatment of giant renal angiomyolipoma associated with tuberous sclerosis |
spellingShingle |
Everolimus in the treatment of giant renal angiomyolipoma associated with tuberous sclerosis Oliveira,Miguel Everolimus renal angiomyolipoma tuberous sclerosis |
title_short |
Everolimus in the treatment of giant renal angiomyolipoma associated with tuberous sclerosis |
title_full |
Everolimus in the treatment of giant renal angiomyolipoma associated with tuberous sclerosis |
title_fullStr |
Everolimus in the treatment of giant renal angiomyolipoma associated with tuberous sclerosis |
title_full_unstemmed |
Everolimus in the treatment of giant renal angiomyolipoma associated with tuberous sclerosis |
title_sort |
Everolimus in the treatment of giant renal angiomyolipoma associated with tuberous sclerosis |
author |
Oliveira,Miguel |
author_facet |
Oliveira,Miguel Costa,Marta Sofia Barra,Tiago Silva,Andreia Sousa,Tânia Rodrigues,Joana Costa,Filipa Lemos,Sérgio |
author_role |
author |
author2 |
Costa,Marta Sofia Barra,Tiago Silva,Andreia Sousa,Tânia Rodrigues,Joana Costa,Filipa Lemos,Sérgio |
author2_role |
author author author author author author author |
dc.contributor.author.fl_str_mv |
Oliveira,Miguel Costa,Marta Sofia Barra,Tiago Silva,Andreia Sousa,Tânia Rodrigues,Joana Costa,Filipa Lemos,Sérgio |
dc.subject.por.fl_str_mv |
Everolimus renal angiomyolipoma tuberous sclerosis |
topic |
Everolimus renal angiomyolipoma tuberous sclerosis |
description |
Tuberous sclerosis complex is an autosomal dominant disorder characterized by the development of multiple tumours in distinct organs, although the ones most frequently affected are the skin, central nervous system, kidney, lung and liver. The kidney is the third most frequently affected organ, and angiomyolipomas are the most common lesions. Two-thirds of patients have sporadic mutations of the genes responsible for the disease, called tuberous sclerosis complex 1 and 2, encoding hamartin and tuberin, respectively. Hamartin and tuberin are tumoural suppressor proteins that are engaged in the control of cell proliferation and differentiation. When the tuberous sclerosis complex 1-2 suffers mutation, the mammalian target of rapamycin complex 1 pathway is constitutively activated, leading to neoplastic growth. Everolimus is a drug that inhibits mammalian target of rapamycin pathway and it is being used successfully in the treatment of renal angiomyolipomas associated with tuberous sclerosis complex. The authors report a case of a 34-year-old woman with tuberous sclerosis and giant renal angiomyolipoma, who received everolimus 10 mg daily for 6 months, but this was not associated with a reduction in the angiomyolipoma volume. This case describes the use of a systemic therapy in a rare genetic disorder. Although the treatment with everolimus did not reduce the patients renal angiomyolipoma volume and, thus, was apparently ineffective, no new lesions, bleeding episodes or deterioration of the kidney function were observed, suggesting that everolimus may have prevented disease progression |
publishDate |
2016 |
dc.date.none.fl_str_mv |
2016-06-01 |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
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publishedVersion |
dc.identifier.uri.fl_str_mv |
http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692016000200009 |
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http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692016000200009 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
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http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692016000200009 |
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info:eu-repo/semantics/openAccess |
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openAccess |
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text/html |
dc.publisher.none.fl_str_mv |
Sociedade Portuguesa de Nefrologia |
publisher.none.fl_str_mv |
Sociedade Portuguesa de Nefrologia |
dc.source.none.fl_str_mv |
Portuguese Journal of Nephrology & Hypertension v.30 n.2 2016 reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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RCAAP |
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RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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1799137279612026880 |