Tumor Necrosis Factor Receptor-1 Associated Periodic Syndrome in Two Brothers: Case Report
Autor(a) principal: | |
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Data de Publicação: | 2022 |
Outros Autores: | , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | https://doi.org/10.25754/pjp.2022.25061 |
Resumo: | Hereditary periodic fever syndromes are a rare group of diseases that should be considered in the differential diagnosis of recurrent fevers of unknown origin. We report a case of two brothers with recurrent, self-limited fever episodes since three years of age associated with prostration, conjunctival hyperemia, abdominal pain, polyarthralgia, and myalgia. Acute phase reactants (C-reactive protein and erythrocyte sedimentation rate) were markedly elevated during crisis and normal during asymptomatic periods. Genetic study identified a mutation in the TNFRSF1A gene (c.242G>T, p.Cys81Phe) and led to the diagnosis of tumor necrosis factor receptor-1 associated periodic syndrome. Treatment with an interleukin-1 receptor antagonist (anakinra) was initiated with symptomatic control. The children father, who suffered from renal failure in the context of AA amyloidosis was also tested and demonstrated to have the same mutation. Tumor necrosis factor receptor-1 associated periodic syndrome is one of the most common hereditary periodic fever syndromes. It has an autosomal dominant pattern with incomplete penetrance, and presents with high interindividual variability of symptoms. AA amyloidosis is the most severe complication of untreated tumor necrosis factor receptor-1 associated periodic syndrome. Based on evidence, treatment with an interleukin-1 receptor antagonist is effective in remitting symptoms and preventing complications. |
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Tumor Necrosis Factor Receptor-1 Associated Periodic Syndrome in Two Brothers: Case ReportSíndrome periódica associada ao recetor do fator de necrose tumoral (TRAPS) em dois irmãos - caso clínicoCase reportsHereditary periodic fever syndromes are a rare group of diseases that should be considered in the differential diagnosis of recurrent fevers of unknown origin. We report a case of two brothers with recurrent, self-limited fever episodes since three years of age associated with prostration, conjunctival hyperemia, abdominal pain, polyarthralgia, and myalgia. Acute phase reactants (C-reactive protein and erythrocyte sedimentation rate) were markedly elevated during crisis and normal during asymptomatic periods. Genetic study identified a mutation in the TNFRSF1A gene (c.242G>T, p.Cys81Phe) and led to the diagnosis of tumor necrosis factor receptor-1 associated periodic syndrome. Treatment with an interleukin-1 receptor antagonist (anakinra) was initiated with symptomatic control. The children father, who suffered from renal failure in the context of AA amyloidosis was also tested and demonstrated to have the same mutation. Tumor necrosis factor receptor-1 associated periodic syndrome is one of the most common hereditary periodic fever syndromes. It has an autosomal dominant pattern with incomplete penetrance, and presents with high interindividual variability of symptoms. AA amyloidosis is the most severe complication of untreated tumor necrosis factor receptor-1 associated periodic syndrome. Based on evidence, treatment with an interleukin-1 receptor antagonist is effective in remitting symptoms and preventing complications.As síndromes febris periódicas hereditárias são doenças raras que devem ser consideradas no diagnóstico diferencial de febre recorrente de origem desconhecida. Relatamos o caso de dois irmãos com episódios febris recorrentes, autolimitados, com início aos 3 anos de idade, associados a prostração, hiperemia conjuntival, dor abdominal, poliartralgia e mialgias. Os reagentes da fase aguda (proteína C reativa e velocidade de sedimentação eritrocitária) aumentavam durante a crise e normalizavam na fase assintomática. O estudo genético identificou uma mutação no gene TNFRSF1A (c.242G>T, p.Cys81Phe), e foi assumido o diagnóstico de síndrome periódica associada ao recetor do fator de necrose tumoral (TRAPS). Foi iniciado tratamento com um antagonista do recetor de IL-1 (Anakinra), com controlo dos sintomas. O pai das crianças, com insuficiência renal no contexto de amiloidose AA, foi também testado e a mesma mutação foi detetada. O TRAPS é uma das síndromes febris periódicas hereditárias mais comuns. Possui padrão autossómico dominante com penetrância incompleta, resultando numa grande variabilidade inter-individual de sintomas. A complicação mais grave de TRAPS não tratada é a amiloidose AA. O tratamento com antagonista do recetor de IL-1 é eficaz na remissão dos sintomas e prevenção de complicações.Sociedade Portuguesa de Pediatria2022-07-14info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articlehttps://doi.org/10.25754/pjp.2022.25061eng2184-44532184-3333Formiga, AdrianaConde, MartaVieira Martins, MiguelRodrigues, CarlosOliveira, Margaridainfo: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:RCAAP2023-08-03T02:58:21Zoai:ojs.revistas.rcaap.pt:article/25061Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T20:25:39.128997Repositório 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 |
Tumor Necrosis Factor Receptor-1 Associated Periodic Syndrome in Two Brothers: Case Report Síndrome periódica associada ao recetor do fator de necrose tumoral (TRAPS) em dois irmãos - caso clínico |
title |
Tumor Necrosis Factor Receptor-1 Associated Periodic Syndrome in Two Brothers: Case Report |
spellingShingle |
Tumor Necrosis Factor Receptor-1 Associated Periodic Syndrome in Two Brothers: Case Report Formiga, Adriana Case reports |
title_short |
Tumor Necrosis Factor Receptor-1 Associated Periodic Syndrome in Two Brothers: Case Report |
title_full |
Tumor Necrosis Factor Receptor-1 Associated Periodic Syndrome in Two Brothers: Case Report |
title_fullStr |
Tumor Necrosis Factor Receptor-1 Associated Periodic Syndrome in Two Brothers: Case Report |
title_full_unstemmed |
Tumor Necrosis Factor Receptor-1 Associated Periodic Syndrome in Two Brothers: Case Report |
title_sort |
Tumor Necrosis Factor Receptor-1 Associated Periodic Syndrome in Two Brothers: Case Report |
author |
Formiga, Adriana |
author_facet |
Formiga, Adriana Conde, Marta Vieira Martins, Miguel Rodrigues, Carlos Oliveira, Margarida |
author_role |
author |
author2 |
Conde, Marta Vieira Martins, Miguel Rodrigues, Carlos Oliveira, Margarida |
author2_role |
author author author author |
dc.contributor.author.fl_str_mv |
Formiga, Adriana Conde, Marta Vieira Martins, Miguel Rodrigues, Carlos Oliveira, Margarida |
dc.subject.por.fl_str_mv |
Case reports |
topic |
Case reports |
description |
Hereditary periodic fever syndromes are a rare group of diseases that should be considered in the differential diagnosis of recurrent fevers of unknown origin. We report a case of two brothers with recurrent, self-limited fever episodes since three years of age associated with prostration, conjunctival hyperemia, abdominal pain, polyarthralgia, and myalgia. Acute phase reactants (C-reactive protein and erythrocyte sedimentation rate) were markedly elevated during crisis and normal during asymptomatic periods. Genetic study identified a mutation in the TNFRSF1A gene (c.242G>T, p.Cys81Phe) and led to the diagnosis of tumor necrosis factor receptor-1 associated periodic syndrome. Treatment with an interleukin-1 receptor antagonist (anakinra) was initiated with symptomatic control. The children father, who suffered from renal failure in the context of AA amyloidosis was also tested and demonstrated to have the same mutation. Tumor necrosis factor receptor-1 associated periodic syndrome is one of the most common hereditary periodic fever syndromes. It has an autosomal dominant pattern with incomplete penetrance, and presents with high interindividual variability of symptoms. AA amyloidosis is the most severe complication of untreated tumor necrosis factor receptor-1 associated periodic syndrome. Based on evidence, treatment with an interleukin-1 receptor antagonist is effective in remitting symptoms and preventing complications. |
publishDate |
2022 |
dc.date.none.fl_str_mv |
2022-07-14 |
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 |
https://doi.org/10.25754/pjp.2022.25061 |
url |
https://doi.org/10.25754/pjp.2022.25061 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
2184-4453 2184-3333 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.publisher.none.fl_str_mv |
Sociedade Portuguesa de Pediatria |
publisher.none.fl_str_mv |
Sociedade Portuguesa de Pediatria |
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 |
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1799133525801172993 |