Adult presentation of Bartter syndrome type IV with erythrocytosis

Detalhes bibliográficos
Autor(a) principal: Heilberg,Ita Pfeferman
Data de Publicação: 2015
Outros Autores: Tótoli,Cláudia, Calado,Joaquim Tomaz
Tipo de documento: Relatório
Idioma: eng
Título da fonte: Einstein (São Paulo)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1679-45082015000400604
Resumo: Abstract Bartter syndrome comprises a group of rare autosomal-recessive salt-losing disorders with distinct phenotypes, but one unifying pathophysiology consisting of severe reductions of sodium reabsorption caused by mutations in five genes expressed in the thick ascending limb of Henle, coupled with increased urinary excretion of potassium and hydrogen, which leads to hypokalemic alkalosis. Bartter syndrome type IV, caused by loss-of-function mutations in barttin, a subunit of chloride channel CLC-Kb expressed in the kidney and inner ear, usually occurs in the antenatal-neonatal period. We report an unusual case of late onset presentation of Bartter syndrome IV and mild phenotype in a 20 years-old man who had hypokalemia, deafness, secondary hyperparathyroidism and erythrocytosis.
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spelling Adult presentation of Bartter syndrome type IV with erythrocytosisBartter syndromeHypokalemiaChloride channelsCase reportsAbstract Bartter syndrome comprises a group of rare autosomal-recessive salt-losing disorders with distinct phenotypes, but one unifying pathophysiology consisting of severe reductions of sodium reabsorption caused by mutations in five genes expressed in the thick ascending limb of Henle, coupled with increased urinary excretion of potassium and hydrogen, which leads to hypokalemic alkalosis. Bartter syndrome type IV, caused by loss-of-function mutations in barttin, a subunit of chloride channel CLC-Kb expressed in the kidney and inner ear, usually occurs in the antenatal-neonatal period. We report an unusual case of late onset presentation of Bartter syndrome IV and mild phenotype in a 20 years-old man who had hypokalemia, deafness, secondary hyperparathyroidism and erythrocytosis.Instituto Israelita de Ensino e Pesquisa Albert Einstein2015-12-01info:eu-repo/semantics/reportinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1679-45082015000400604einstein (São Paulo) v.13 n.4 2015reponame:Einstein (São Paulo)instname:Instituto Israelita de Ensino e Pesquisa Albert Einstein (IIEPAE)instacron:IIEPAE10.1590/S1679-45082015RC3013info:eu-repo/semantics/openAccessHeilberg,Ita PfefermanTótoli,CláudiaCalado,Joaquim Tomazeng2016-01-05T00:00:00Zoai:scielo:S1679-45082015000400604Revistahttps://journal.einstein.br/pt-br/ONGhttps://old.scielo.br/oai/scielo-oai.php||revista@einstein.br2317-63851679-4508opendoar:2016-01-05T00:00Einstein (São Paulo) - Instituto Israelita de Ensino e Pesquisa Albert Einstein (IIEPAE)false
dc.title.none.fl_str_mv Adult presentation of Bartter syndrome type IV with erythrocytosis
title Adult presentation of Bartter syndrome type IV with erythrocytosis
spellingShingle Adult presentation of Bartter syndrome type IV with erythrocytosis
Heilberg,Ita Pfeferman
Bartter syndrome
Hypokalemia
Chloride channels
Case reports
title_short Adult presentation of Bartter syndrome type IV with erythrocytosis
title_full Adult presentation of Bartter syndrome type IV with erythrocytosis
title_fullStr Adult presentation of Bartter syndrome type IV with erythrocytosis
title_full_unstemmed Adult presentation of Bartter syndrome type IV with erythrocytosis
title_sort Adult presentation of Bartter syndrome type IV with erythrocytosis
author Heilberg,Ita Pfeferman
author_facet Heilberg,Ita Pfeferman
Tótoli,Cláudia
Calado,Joaquim Tomaz
author_role author
author2 Tótoli,Cláudia
Calado,Joaquim Tomaz
author2_role author
author
dc.contributor.author.fl_str_mv Heilberg,Ita Pfeferman
Tótoli,Cláudia
Calado,Joaquim Tomaz
dc.subject.por.fl_str_mv Bartter syndrome
Hypokalemia
Chloride channels
Case reports
topic Bartter syndrome
Hypokalemia
Chloride channels
Case reports
description Abstract Bartter syndrome comprises a group of rare autosomal-recessive salt-losing disorders with distinct phenotypes, but one unifying pathophysiology consisting of severe reductions of sodium reabsorption caused by mutations in five genes expressed in the thick ascending limb of Henle, coupled with increased urinary excretion of potassium and hydrogen, which leads to hypokalemic alkalosis. Bartter syndrome type IV, caused by loss-of-function mutations in barttin, a subunit of chloride channel CLC-Kb expressed in the kidney and inner ear, usually occurs in the antenatal-neonatal period. We report an unusual case of late onset presentation of Bartter syndrome IV and mild phenotype in a 20 years-old man who had hypokalemia, deafness, secondary hyperparathyroidism and erythrocytosis.
publishDate 2015
dc.date.none.fl_str_mv 2015-12-01
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dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1679-45082015000400604
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dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S1679-45082015RC3013
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dc.publisher.none.fl_str_mv Instituto Israelita de Ensino e Pesquisa Albert Einstein
publisher.none.fl_str_mv Instituto Israelita de Ensino e Pesquisa Albert Einstein
dc.source.none.fl_str_mv einstein (São Paulo) v.13 n.4 2015
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collection Einstein (São Paulo)
repository.name.fl_str_mv Einstein (São Paulo) - Instituto Israelita de Ensino e Pesquisa Albert Einstein (IIEPAE)
repository.mail.fl_str_mv ||revista@einstein.br
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