Portuguese‐type amyloidosis (transthyretin amyloidosis, ATTR V30M).
Autor(a) principal: | |
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Data de Publicação: | 2003 |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/10400.16/720 |
Resumo: | J Nephrol. 2003 May-Jun;16(3):438-42. Portuguese-type amyloidosis (transthyretin amyloidosis, ATTR V30M). Lobato L. SourceDepartment of Nephrology, Santo António General Hospital, Porto, Portugal. llobato@netcabo.pt Abstract Portuguese-type amyloidosis (transthyretin amyloidosis, ATTR V30M) is the most common form of systemic hereditary amyloidosis, inherited in autosomal dominant mode. The disease, also called familial amyloid polyneuropathy type I (FAP-I), is caused by a mutant transthyretin (TTR) protein, which is synthesized by the liver. A single amino acid substitution of methionine for valine at position 30 of the TTR molecule (TTR V30M) was found in Portuguese patients. The clinical disease usually manifests as a peripheral sensory, motor and autonomic neuropathy starting in the 3rd or 4th decade of life. Renal manifestations of ATTR V30M, like other amyloidoses, are different levels of proteinuria and renal insufficiency. In ATTR V30M a large amyloid deposition in the medullary zone of the kidney and tubules is characteristic. A more extensive glomerular and vascular involvement is present only in patients with renal manifestations. A prospective survey in the north of Portugal showed that a stage of microalbuminuria (MA) could precede nephropathy and neurological disease. Nephropathy in FAP-I is present in one-third of affected patients and tends to aggregate in families. The progression towards end-stage renal disease (ESRD) affects 10% of the patients, and the survival after initiation of dialysis is a mean of 21 months. Patients who progress to ESRD have a late onset of neuropathy and lower prevalence of clinical disease in their families. Liver transplantation is a widely accepted treatment for FAP-I, and combined liver-kidney transplantation is also an option for selected patients with FAP-I and ESRD. |
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Portuguese‐type amyloidosis (transthyretin amyloidosis, ATTR V30M).J Nephrol. 2003 May-Jun;16(3):438-42. Portuguese-type amyloidosis (transthyretin amyloidosis, ATTR V30M). Lobato L. SourceDepartment of Nephrology, Santo António General Hospital, Porto, Portugal. llobato@netcabo.pt Abstract Portuguese-type amyloidosis (transthyretin amyloidosis, ATTR V30M) is the most common form of systemic hereditary amyloidosis, inherited in autosomal dominant mode. The disease, also called familial amyloid polyneuropathy type I (FAP-I), is caused by a mutant transthyretin (TTR) protein, which is synthesized by the liver. A single amino acid substitution of methionine for valine at position 30 of the TTR molecule (TTR V30M) was found in Portuguese patients. The clinical disease usually manifests as a peripheral sensory, motor and autonomic neuropathy starting in the 3rd or 4th decade of life. Renal manifestations of ATTR V30M, like other amyloidoses, are different levels of proteinuria and renal insufficiency. In ATTR V30M a large amyloid deposition in the medullary zone of the kidney and tubules is characteristic. A more extensive glomerular and vascular involvement is present only in patients with renal manifestations. A prospective survey in the north of Portugal showed that a stage of microalbuminuria (MA) could precede nephropathy and neurological disease. Nephropathy in FAP-I is present in one-third of affected patients and tends to aggregate in families. The progression towards end-stage renal disease (ESRD) affects 10% of the patients, and the survival after initiation of dialysis is a mean of 21 months. Patients who progress to ESRD have a late onset of neuropathy and lower prevalence of clinical disease in their families. Liver transplantation is a widely accepted treatment for FAP-I, and combined liver-kidney transplantation is also an option for selected patients with FAP-I and ESRD.Wichtig EditoreRepositório Científico do Centro Hospitalar do PortoLobato, L.2011-07-06T08:51:16Z2003-05-01T00:00:00Z2003-05-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.16/720eng1121-8428info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2022-09-05T12:39:20ZPortal AgregadorONG |
dc.title.none.fl_str_mv |
Portuguese‐type amyloidosis (transthyretin amyloidosis, ATTR V30M). |
title |
Portuguese‐type amyloidosis (transthyretin amyloidosis, ATTR V30M). |
spellingShingle |
Portuguese‐type amyloidosis (transthyretin amyloidosis, ATTR V30M). Lobato, L. |
title_short |
Portuguese‐type amyloidosis (transthyretin amyloidosis, ATTR V30M). |
title_full |
Portuguese‐type amyloidosis (transthyretin amyloidosis, ATTR V30M). |
title_fullStr |
Portuguese‐type amyloidosis (transthyretin amyloidosis, ATTR V30M). |
title_full_unstemmed |
Portuguese‐type amyloidosis (transthyretin amyloidosis, ATTR V30M). |
title_sort |
Portuguese‐type amyloidosis (transthyretin amyloidosis, ATTR V30M). |
author |
Lobato, L. |
author_facet |
Lobato, L. |
author_role |
author |
dc.contributor.none.fl_str_mv |
Repositório Científico do Centro Hospitalar do Porto |
dc.contributor.author.fl_str_mv |
Lobato, L. |
description |
J Nephrol. 2003 May-Jun;16(3):438-42. Portuguese-type amyloidosis (transthyretin amyloidosis, ATTR V30M). Lobato L. SourceDepartment of Nephrology, Santo António General Hospital, Porto, Portugal. llobato@netcabo.pt Abstract Portuguese-type amyloidosis (transthyretin amyloidosis, ATTR V30M) is the most common form of systemic hereditary amyloidosis, inherited in autosomal dominant mode. The disease, also called familial amyloid polyneuropathy type I (FAP-I), is caused by a mutant transthyretin (TTR) protein, which is synthesized by the liver. A single amino acid substitution of methionine for valine at position 30 of the TTR molecule (TTR V30M) was found in Portuguese patients. The clinical disease usually manifests as a peripheral sensory, motor and autonomic neuropathy starting in the 3rd or 4th decade of life. Renal manifestations of ATTR V30M, like other amyloidoses, are different levels of proteinuria and renal insufficiency. In ATTR V30M a large amyloid deposition in the medullary zone of the kidney and tubules is characteristic. A more extensive glomerular and vascular involvement is present only in patients with renal manifestations. A prospective survey in the north of Portugal showed that a stage of microalbuminuria (MA) could precede nephropathy and neurological disease. Nephropathy in FAP-I is present in one-third of affected patients and tends to aggregate in families. The progression towards end-stage renal disease (ESRD) affects 10% of the patients, and the survival after initiation of dialysis is a mean of 21 months. Patients who progress to ESRD have a late onset of neuropathy and lower prevalence of clinical disease in their families. Liver transplantation is a widely accepted treatment for FAP-I, and combined liver-kidney transplantation is also an option for selected patients with FAP-I and ESRD. |
publishDate |
2003 |
dc.date.none.fl_str_mv |
2003-05-01T00:00:00Z 2003-05-01T00:00:00Z 2011-07-06T08:51:16Z |
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info:eu-repo/semantics/publishedVersion |
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info:eu-repo/semantics/article |
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article |
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http://hdl.handle.net/10400.16/720 |
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http://hdl.handle.net/10400.16/720 |
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eng |
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eng |
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1121-8428 |
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openAccess |
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application/pdf |
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Wichtig Editore |
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Wichtig Editore |
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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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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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