Pseudo-Bartter syndrome as an initial presentation of cystic fibrosis
Autor(a) principal: | |
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Data de Publicação: | 2014 |
Outros Autores: | , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692014000400012 |
Resumo: | Introduction: The clinical manifestations of cystic fibrosis may involve multiple organs. Although the most commonly affected systems are respiratory and gastrointestinal ones, it can present as an acid-base and electrolyte imbalance called pseudo-Bartter syndrome. Case Report: We present a case of a 4-month-old boy that presented in our hospital in mid-August with complaints of anorexia and irritability for two weeks. There had been no previous history of respiratory or gastrointestinal symptoms. His parents and remaining family were healthy. Physical examination showed an irritable child with moderate dehydration. No other abnormalities were recorded. Laboratory tests on admission revealed hyponatremic hypochloremic dehydration and metabolic alkalosis. Further investigation showed a high sweat chloride concentration (109mEq/L and 103mEq/L) and a genetic profile confirmed the diagnosis of delF508/delF508 cystic fibrosis. Conclusion: The authors describe this case to remind that the diagnosis of cystic fibrosis should be always considered in any infant with metabolic alkalosis and hyponatremic hypochloremic dehydration, whether or not there are associated pulmonary and/or gastrointestinal symptoms typical for cystic fibrosis. Early diagnosis is essential in improving the prognosis and long-term survival of these children |
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Pseudo-Bartter syndrome as an initial presentation of cystic fibrosisChildrencystic fibrosisdehydrationmetabolic alkalosispseudo-Bartter syndromeIntroduction: The clinical manifestations of cystic fibrosis may involve multiple organs. Although the most commonly affected systems are respiratory and gastrointestinal ones, it can present as an acid-base and electrolyte imbalance called pseudo-Bartter syndrome. Case Report: We present a case of a 4-month-old boy that presented in our hospital in mid-August with complaints of anorexia and irritability for two weeks. There had been no previous history of respiratory or gastrointestinal symptoms. His parents and remaining family were healthy. Physical examination showed an irritable child with moderate dehydration. No other abnormalities were recorded. Laboratory tests on admission revealed hyponatremic hypochloremic dehydration and metabolic alkalosis. Further investigation showed a high sweat chloride concentration (109mEq/L and 103mEq/L) and a genetic profile confirmed the diagnosis of delF508/delF508 cystic fibrosis. Conclusion: The authors describe this case to remind that the diagnosis of cystic fibrosis should be always considered in any infant with metabolic alkalosis and hyponatremic hypochloremic dehydration, whether or not there are associated pulmonary and/or gastrointestinal symptoms typical for cystic fibrosis. Early diagnosis is essential in improving the prognosis and long-term survival of these childrenSociedade Portuguesa de Nefrologia2014-12-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articletext/htmlhttp://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692014000400012Portuguese Journal of Nephrology & Hypertension v.28 n.4 2014reponame: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=S0872-01692014000400012Maia,CatarinaGarrido,AnaCarvalho,IsabelPinto,HelenaVaz,Luisa GuedesFerreira,Gracainfo:eu-repo/semantics/openAccess2023-07-27T12:22:22ZPortal AgregadorONG |
dc.title.none.fl_str_mv |
Pseudo-Bartter syndrome as an initial presentation of cystic fibrosis |
title |
Pseudo-Bartter syndrome as an initial presentation of cystic fibrosis |
spellingShingle |
Pseudo-Bartter syndrome as an initial presentation of cystic fibrosis Maia,Catarina Children cystic fibrosis dehydration metabolic alkalosis pseudo-Bartter syndrome |
title_short |
Pseudo-Bartter syndrome as an initial presentation of cystic fibrosis |
title_full |
Pseudo-Bartter syndrome as an initial presentation of cystic fibrosis |
title_fullStr |
Pseudo-Bartter syndrome as an initial presentation of cystic fibrosis |
title_full_unstemmed |
Pseudo-Bartter syndrome as an initial presentation of cystic fibrosis |
title_sort |
Pseudo-Bartter syndrome as an initial presentation of cystic fibrosis |
author |
Maia,Catarina |
author_facet |
Maia,Catarina Garrido,Ana Carvalho,Isabel Pinto,Helena Vaz,Luisa Guedes Ferreira,Graca |
author_role |
author |
author2 |
Garrido,Ana Carvalho,Isabel Pinto,Helena Vaz,Luisa Guedes Ferreira,Graca |
author2_role |
author author author author author |
dc.contributor.author.fl_str_mv |
Maia,Catarina Garrido,Ana Carvalho,Isabel Pinto,Helena Vaz,Luisa Guedes Ferreira,Graca |
dc.subject.por.fl_str_mv |
Children cystic fibrosis dehydration metabolic alkalosis pseudo-Bartter syndrome |
topic |
Children cystic fibrosis dehydration metabolic alkalosis pseudo-Bartter syndrome |
description |
Introduction: The clinical manifestations of cystic fibrosis may involve multiple organs. Although the most commonly affected systems are respiratory and gastrointestinal ones, it can present as an acid-base and electrolyte imbalance called pseudo-Bartter syndrome. Case Report: We present a case of a 4-month-old boy that presented in our hospital in mid-August with complaints of anorexia and irritability for two weeks. There had been no previous history of respiratory or gastrointestinal symptoms. His parents and remaining family were healthy. Physical examination showed an irritable child with moderate dehydration. No other abnormalities were recorded. Laboratory tests on admission revealed hyponatremic hypochloremic dehydration and metabolic alkalosis. Further investigation showed a high sweat chloride concentration (109mEq/L and 103mEq/L) and a genetic profile confirmed the diagnosis of delF508/delF508 cystic fibrosis. Conclusion: The authors describe this case to remind that the diagnosis of cystic fibrosis should be always considered in any infant with metabolic alkalosis and hyponatremic hypochloremic dehydration, whether or not there are associated pulmonary and/or gastrointestinal symptoms typical for cystic fibrosis. Early diagnosis is essential in improving the prognosis and long-term survival of these children |
publishDate |
2014 |
dc.date.none.fl_str_mv |
2014-12-01 |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692014000400012 |
url |
http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692014000400012 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692014000400012 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
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.28 n.4 2014 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 |
|
repository.mail.fl_str_mv |
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_version_ |
1777304400747823104 |