Biochemical and hematological analysis in acute intermittent porphyria (AIP): a case report

Detalhes bibliográficos
Autor(a) principal: SANTOS,ANNA R.R. DOS
Data de Publicação: 2013
Outros Autores: ALBUQUERQUE,RAFAELA R. DE, DORIQUI,MARIA J.R., COSTA,GRACIOMAR C., SANTOS,ANA PAULA S.A. DOS
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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spelling 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
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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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