Biochemical and hematological analysis in acute intermittent porphyria (AIP): a case report
Autor(a) principal: | |
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Data de Publicação: | 2013 |
Outros Autores: | , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Anais da Academia Brasileira de Ciências (Online) |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0001-37652013000301207 |
Resumo: | Acute intermittent porphyria is the most common acute porphyria caused by a decrease in hepatic porphobilinogen deaminase activity, resulting in an accumulation of delta-aminolevulinic acid and porphobilinogen. This disease shows nonspecific signs and symptoms that can be confused with other diseases, thereby making the diagnosis difficult. We report a case of acute intermittent porphyria, reviewing clinical and laboratory aspects, highlighting the hematological and biochemical parameters during and after the crisis. A female patient, aged 28 years, suffered two crises, both presenting gastrointestinal disorders. The second presented neuropsychiatric symptoms. The analysis of hematological and biochemical parameters during the second crisis showed anemia, leukocytosis, hyponatremia, mild hypokalemia, uremia and elevated C-reactive protein. The initial treatment included glucose infusion, a diet rich in carbohydrates and interruption of porphyrinogenic drugs. Subsequently, treatment was maintained with oral contraceptive use. According to the observed data, signs and symptoms of gastrointestinal, neurological and psychiatric disorders, associated with laboratory results presented in this paper can be applied to screen acute porphyria, contributing to early diagnosis. |
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Biochemical and hematological analysis in acute intermittent porphyria (AIP): a case reportacute intermittent porphyriaanemiaC-reactive proteinhyponatremiaAcute intermittent porphyria is the most common acute porphyria caused by a decrease in hepatic porphobilinogen deaminase activity, resulting in an accumulation of delta-aminolevulinic acid and porphobilinogen. This disease shows nonspecific signs and symptoms that can be confused with other diseases, thereby making the diagnosis difficult. We report a case of acute intermittent porphyria, reviewing clinical and laboratory aspects, highlighting the hematological and biochemical parameters during and after the crisis. A female patient, aged 28 years, suffered two crises, both presenting gastrointestinal disorders. The second presented neuropsychiatric symptoms. The analysis of hematological and biochemical parameters during the second crisis showed anemia, leukocytosis, hyponatremia, mild hypokalemia, uremia and elevated C-reactive protein. The initial treatment included glucose infusion, a diet rich in carbohydrates and interruption of porphyrinogenic drugs. Subsequently, treatment was maintained with oral contraceptive use. According to the observed data, signs and symptoms of gastrointestinal, neurological and psychiatric disorders, associated with laboratory results presented in this paper can be applied to screen acute porphyria, contributing to early diagnosis.Academia Brasileira de Ciências2013-09-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0001-37652013000301207Anais da Academia Brasileira de Ciências v.85 n.3 2013reponame:Anais da Academia Brasileira de Ciências (Online)instname:Academia Brasileira de Ciências (ABC)instacron:ABC10.1590/S0001-37652013000300019info:eu-repo/semantics/openAccessSANTOS,ANNA R.R. DOSALBUQUERQUE,RAFAELA R. DEDORIQUI,MARIA J.R.COSTA,GRACIOMAR C.SANTOS,ANA PAULA S.A. DOSeng2015-10-26T00:00:00Zoai:scielo:S0001-37652013000301207Revistahttp://www.scielo.br/aabchttps://old.scielo.br/oai/scielo-oai.php||aabc@abc.org.br1678-26900001-3765opendoar:2015-10-26T00:00Anais da Academia Brasileira de Ciências (Online) - Academia Brasileira de Ciências (ABC)false |
dc.title.none.fl_str_mv |
Biochemical and hematological analysis in acute intermittent porphyria (AIP): a case report |
title |
Biochemical and hematological analysis in acute intermittent porphyria (AIP): a case report |
spellingShingle |
Biochemical and hematological analysis in acute intermittent porphyria (AIP): a case report SANTOS,ANNA R.R. DOS acute intermittent porphyria anemia C-reactive protein hyponatremia |
title_short |
Biochemical and hematological analysis in acute intermittent porphyria (AIP): a case report |
title_full |
Biochemical and hematological analysis in acute intermittent porphyria (AIP): a case report |
title_fullStr |
Biochemical and hematological analysis in acute intermittent porphyria (AIP): a case report |
title_full_unstemmed |
Biochemical and hematological analysis in acute intermittent porphyria (AIP): a case report |
title_sort |
Biochemical and hematological analysis in acute intermittent porphyria (AIP): a case report |
author |
SANTOS,ANNA R.R. DOS |
author_facet |
SANTOS,ANNA R.R. DOS ALBUQUERQUE,RAFAELA R. DE DORIQUI,MARIA J.R. COSTA,GRACIOMAR C. SANTOS,ANA PAULA S.A. DOS |
author_role |
author |
author2 |
ALBUQUERQUE,RAFAELA R. DE DORIQUI,MARIA J.R. COSTA,GRACIOMAR C. SANTOS,ANA PAULA S.A. DOS |
author2_role |
author author author author |
dc.contributor.author.fl_str_mv |
SANTOS,ANNA R.R. DOS ALBUQUERQUE,RAFAELA R. DE DORIQUI,MARIA J.R. COSTA,GRACIOMAR C. SANTOS,ANA PAULA S.A. DOS |
dc.subject.por.fl_str_mv |
acute intermittent porphyria anemia C-reactive protein hyponatremia |
topic |
acute intermittent porphyria anemia C-reactive protein hyponatremia |
description |
Acute intermittent porphyria is the most common acute porphyria caused by a decrease in hepatic porphobilinogen deaminase activity, resulting in an accumulation of delta-aminolevulinic acid and porphobilinogen. This disease shows nonspecific signs and symptoms that can be confused with other diseases, thereby making the diagnosis difficult. We report a case of acute intermittent porphyria, reviewing clinical and laboratory aspects, highlighting the hematological and biochemical parameters during and after the crisis. A female patient, aged 28 years, suffered two crises, both presenting gastrointestinal disorders. The second presented neuropsychiatric symptoms. The analysis of hematological and biochemical parameters during the second crisis showed anemia, leukocytosis, hyponatremia, mild hypokalemia, uremia and elevated C-reactive protein. The initial treatment included glucose infusion, a diet rich in carbohydrates and interruption of porphyrinogenic drugs. Subsequently, treatment was maintained with oral contraceptive use. According to the observed data, signs and symptoms of gastrointestinal, neurological and psychiatric disorders, associated with laboratory results presented in this paper can be applied to screen acute porphyria, contributing to early diagnosis. |
publishDate |
2013 |
dc.date.none.fl_str_mv |
2013-09-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0001-37652013000301207 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0001-37652013000301207 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/S0001-37652013000300019 |
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 |
Academia Brasileira de Ciências |
publisher.none.fl_str_mv |
Academia Brasileira de Ciências |
dc.source.none.fl_str_mv |
Anais da Academia Brasileira de Ciências v.85 n.3 2013 reponame:Anais da Academia Brasileira de Ciências (Online) instname:Academia Brasileira de Ciências (ABC) instacron:ABC |
instname_str |
Academia Brasileira de Ciências (ABC) |
instacron_str |
ABC |
institution |
ABC |
reponame_str |
Anais da Academia Brasileira de Ciências (Online) |
collection |
Anais da Academia Brasileira de Ciências (Online) |
repository.name.fl_str_mv |
Anais da Academia Brasileira de Ciências (Online) - Academia Brasileira de Ciências (ABC) |
repository.mail.fl_str_mv |
||aabc@abc.org.br |
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1754302859539644416 |