Severe Systemic Lupus Erythematosus presentation in patient with alternative complement pathway mutations
Autor(a) principal: | |
---|---|
Data de Publicação: | 2017 |
Outros Autores: | , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/10400.10/1902 |
Resumo: | Systemic lupus erythematosus (SLE) is an autoimmune disease which can involve almost any organ, making its difficult therapeutic approach. Immune complex deposition can often activate complement, accounting for many of SLE clinical manifestations and laboratory findings. We present a case of a patient who presented with acute pancreatitis and acute kidney injury as onset manifestations of SLE, later developing neurological manifestations, who was successfully treated with rituximab, plasma exchange and steroids as induction therapy. Persistently low C3 level led to a genetic analysis of the complement system components. We found three polymorphisms in the alternative pathway of complement regulators (complement factor H c2669 G>T, p.Ser890Ile and c3019 G>T, p.Val1007Leu and complement factor I c.482+6 G>T), two of which have been correlated with atypical haemolytic uraemic syndrome and dense deposit disease and also complement factor H -related protein (CFHR1 and CFHR3) mutations by deletion. This raises the question whether these polymorphisms and mutations played any role in our patient’s clinical course. |
id |
RCAP_782987ccca5d690031c0b68dcc48aafb |
---|---|
oai_identifier_str |
oai:repositorio.hff.min-saude.pt:10400.10/1902 |
network_acronym_str |
RCAP |
network_name_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
repository_id_str |
7160 |
spelling |
Severe Systemic Lupus Erythematosus presentation in patient with alternative complement pathway mutationsSystemic lupus erythematosusAcute kidney injurySystemic lupus erythematosus (SLE) is an autoimmune disease which can involve almost any organ, making its difficult therapeutic approach. Immune complex deposition can often activate complement, accounting for many of SLE clinical manifestations and laboratory findings. We present a case of a patient who presented with acute pancreatitis and acute kidney injury as onset manifestations of SLE, later developing neurological manifestations, who was successfully treated with rituximab, plasma exchange and steroids as induction therapy. Persistently low C3 level led to a genetic analysis of the complement system components. We found three polymorphisms in the alternative pathway of complement regulators (complement factor H c2669 G>T, p.Ser890Ile and c3019 G>T, p.Val1007Leu and complement factor I c.482+6 G>T), two of which have been correlated with atypical haemolytic uraemic syndrome and dense deposit disease and also complement factor H -related protein (CFHR1 and CFHR3) mutations by deletion. This raises the question whether these polymorphisms and mutations played any role in our patient’s clinical course.Sociedade Portuguesa de NefrologiaRepositório do Hospital Prof. Doutor Fernando FonsecaPereira, FCunha, LCampos, PGaspar, AManso, RTSoto, K2017-07-07T14:26:45Z2017-01-01T00:00:00Z2017-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.10/1902engPort J Nephrol Hypert 2017; 31(2): 140-1442183-1289info: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:RCAAP2022-09-20T15:52:38Zoai:repositorio.hff.min-saude.pt:10400.10/1902Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T15:52:56.034905Repositório 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 |
Severe Systemic Lupus Erythematosus presentation in patient with alternative complement pathway mutations |
title |
Severe Systemic Lupus Erythematosus presentation in patient with alternative complement pathway mutations |
spellingShingle |
Severe Systemic Lupus Erythematosus presentation in patient with alternative complement pathway mutations Pereira, F Systemic lupus erythematosus Acute kidney injury |
title_short |
Severe Systemic Lupus Erythematosus presentation in patient with alternative complement pathway mutations |
title_full |
Severe Systemic Lupus Erythematosus presentation in patient with alternative complement pathway mutations |
title_fullStr |
Severe Systemic Lupus Erythematosus presentation in patient with alternative complement pathway mutations |
title_full_unstemmed |
Severe Systemic Lupus Erythematosus presentation in patient with alternative complement pathway mutations |
title_sort |
Severe Systemic Lupus Erythematosus presentation in patient with alternative complement pathway mutations |
author |
Pereira, F |
author_facet |
Pereira, F Cunha, L Campos, P Gaspar, A Manso, RT Soto, K |
author_role |
author |
author2 |
Cunha, L Campos, P Gaspar, A Manso, RT Soto, K |
author2_role |
author author author author author |
dc.contributor.none.fl_str_mv |
Repositório do Hospital Prof. Doutor Fernando Fonseca |
dc.contributor.author.fl_str_mv |
Pereira, F Cunha, L Campos, P Gaspar, A Manso, RT Soto, K |
dc.subject.por.fl_str_mv |
Systemic lupus erythematosus Acute kidney injury |
topic |
Systemic lupus erythematosus Acute kidney injury |
description |
Systemic lupus erythematosus (SLE) is an autoimmune disease which can involve almost any organ, making its difficult therapeutic approach. Immune complex deposition can often activate complement, accounting for many of SLE clinical manifestations and laboratory findings. We present a case of a patient who presented with acute pancreatitis and acute kidney injury as onset manifestations of SLE, later developing neurological manifestations, who was successfully treated with rituximab, plasma exchange and steroids as induction therapy. Persistently low C3 level led to a genetic analysis of the complement system components. We found three polymorphisms in the alternative pathway of complement regulators (complement factor H c2669 G>T, p.Ser890Ile and c3019 G>T, p.Val1007Leu and complement factor I c.482+6 G>T), two of which have been correlated with atypical haemolytic uraemic syndrome and dense deposit disease and also complement factor H -related protein (CFHR1 and CFHR3) mutations by deletion. This raises the question whether these polymorphisms and mutations played any role in our patient’s clinical course. |
publishDate |
2017 |
dc.date.none.fl_str_mv |
2017-07-07T14:26:45Z 2017-01-01T00:00:00Z 2017-01-01T00:00:00Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10400.10/1902 |
url |
http://hdl.handle.net/10400.10/1902 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Port J Nephrol Hypert 2017; 31(2): 140-144 2183-1289 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
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 |
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
instname_str |
Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
instacron_str |
RCAAP |
institution |
RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
collection |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
repository.name.fl_str_mv |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
repository.mail.fl_str_mv |
|
_version_ |
1799130395742044160 |