Gitelman syndrome, a rare condition: three clinical cases and pathophysiology review
Autor(a) principal: | |
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Data de Publicação: | 2020 |
Outros Autores: | , , , |
Tipo de documento: | Relatório |
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=S0872-07542020000400204 |
Resumo: | Abstract Introduction: Gitelman syndrome (GS) is a renal tubular disorder characterized by hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria. Clinical manifestations are nonspecific. Herein are reported three cases of GS with different age of onset, clinical manifestations, and management. Case Reports: Case 1 was a sixteen-year-old female, while Cases 2 and 3 presented at an atypical age (seven and eight years). Clinical manifestations mainly consisted of abdominal pain with vomits, together with past history of muscular weakness in Case 1. Diagnosis was based on usual electrolyte abnormalities, such as metabolic alkalosis with hypokalemia. Genetic diagnosis was confirmed in Case 3. Patients were treated with oral potassium, magnesium, and spironolactone, with symptom and electrolytic profile improvement. Discussion/Conclusions: GS is a rare condition that should be considered in cases of metabolic alkalosis and hypokalemia and all pediatricians should be aware of. Diagnosis is established based on biochemical profile and treatment response. |
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Gitelman syndrome, a rare condition: three clinical cases and pathophysiology reviewGitelman syndromehypokalemiametabolic alkalosistubular hypomagnesemia-hypokalemia with hypocalciuriatubulopathyAbstract Introduction: Gitelman syndrome (GS) is a renal tubular disorder characterized by hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria. Clinical manifestations are nonspecific. Herein are reported three cases of GS with different age of onset, clinical manifestations, and management. Case Reports: Case 1 was a sixteen-year-old female, while Cases 2 and 3 presented at an atypical age (seven and eight years). Clinical manifestations mainly consisted of abdominal pain with vomits, together with past history of muscular weakness in Case 1. Diagnosis was based on usual electrolyte abnormalities, such as metabolic alkalosis with hypokalemia. Genetic diagnosis was confirmed in Case 3. Patients were treated with oral potassium, magnesium, and spironolactone, with symptom and electrolytic profile improvement. Discussion/Conclusions: GS is a rare condition that should be considered in cases of metabolic alkalosis and hypokalemia and all pediatricians should be aware of. Diagnosis is established based on biochemical profile and treatment response.Centro Hospitalar do Porto2020-12-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/reporttext/htmlhttp://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542020000400204Nascer e Crescer v.29 n.4 2020reponame: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=S0872-07542020000400204Meireles,DanielFigueiredo,RafaelRocha,LilianaCunha,JoaquimMatos,Paulainfo:eu-repo/semantics/openAccess2024-02-06T17:06:28Zoai:scielo:S0872-07542020000400204Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T02:19:48.785888Repositório 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 |
Gitelman syndrome, a rare condition: three clinical cases and pathophysiology review |
title |
Gitelman syndrome, a rare condition: three clinical cases and pathophysiology review |
spellingShingle |
Gitelman syndrome, a rare condition: three clinical cases and pathophysiology review Meireles,Daniel Gitelman syndrome hypokalemia metabolic alkalosis tubular hypomagnesemia-hypokalemia with hypocalciuria tubulopathy |
title_short |
Gitelman syndrome, a rare condition: three clinical cases and pathophysiology review |
title_full |
Gitelman syndrome, a rare condition: three clinical cases and pathophysiology review |
title_fullStr |
Gitelman syndrome, a rare condition: three clinical cases and pathophysiology review |
title_full_unstemmed |
Gitelman syndrome, a rare condition: three clinical cases and pathophysiology review |
title_sort |
Gitelman syndrome, a rare condition: three clinical cases and pathophysiology review |
author |
Meireles,Daniel |
author_facet |
Meireles,Daniel Figueiredo,Rafael Rocha,Liliana Cunha,Joaquim Matos,Paula |
author_role |
author |
author2 |
Figueiredo,Rafael Rocha,Liliana Cunha,Joaquim Matos,Paula |
author2_role |
author author author author |
dc.contributor.author.fl_str_mv |
Meireles,Daniel Figueiredo,Rafael Rocha,Liliana Cunha,Joaquim Matos,Paula |
dc.subject.por.fl_str_mv |
Gitelman syndrome hypokalemia metabolic alkalosis tubular hypomagnesemia-hypokalemia with hypocalciuria tubulopathy |
topic |
Gitelman syndrome hypokalemia metabolic alkalosis tubular hypomagnesemia-hypokalemia with hypocalciuria tubulopathy |
description |
Abstract Introduction: Gitelman syndrome (GS) is a renal tubular disorder characterized by hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria. Clinical manifestations are nonspecific. Herein are reported three cases of GS with different age of onset, clinical manifestations, and management. Case Reports: Case 1 was a sixteen-year-old female, while Cases 2 and 3 presented at an atypical age (seven and eight years). Clinical manifestations mainly consisted of abdominal pain with vomits, together with past history of muscular weakness in Case 1. Diagnosis was based on usual electrolyte abnormalities, such as metabolic alkalosis with hypokalemia. Genetic diagnosis was confirmed in Case 3. Patients were treated with oral potassium, magnesium, and spironolactone, with symptom and electrolytic profile improvement. Discussion/Conclusions: GS is a rare condition that should be considered in cases of metabolic alkalosis and hypokalemia and all pediatricians should be aware of. Diagnosis is established based on biochemical profile and treatment response. |
publishDate |
2020 |
dc.date.none.fl_str_mv |
2020-12-01 |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/report |
format |
report |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542020000400204 |
url |
http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542020000400204 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542020000400204 |
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 |
Centro Hospitalar do Porto |
publisher.none.fl_str_mv |
Centro Hospitalar do Porto |
dc.source.none.fl_str_mv |
Nascer e Crescer v.29 n.4 2020 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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1799137288277458944 |