Adult presentation of Bartter syndrome type IV with erythrocytosis
Autor(a) principal: | |
---|---|
Data de Publicação: | 2015 |
Outros Autores: | , |
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. |
id |
IIEPAE-1_4481c7f02d10da64c04f75337f43c48c |
---|---|
oai_identifier_str |
oai:scielo:S1679-45082015000400604 |
network_acronym_str |
IIEPAE-1 |
network_name_str |
Einstein (São Paulo) |
repository_id_str |
|
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 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/report |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
report |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1679-45082015000400604 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1679-45082015000400604 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/S1679-45082015RC3013 |
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 |
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 reponame:Einstein (São Paulo) instname:Instituto Israelita de Ensino e Pesquisa Albert Einstein (IIEPAE) instacron:IIEPAE |
instname_str |
Instituto Israelita de Ensino e Pesquisa Albert Einstein (IIEPAE) |
instacron_str |
IIEPAE |
institution |
IIEPAE |
reponame_str |
Einstein (São Paulo) |
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 |
_version_ |
1752129908011696128 |