Familial hyperamylasemia
Autor(a) principal: | |
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Data de Publicação: | 2002 |
Outros Autores: | |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Revista do Hospital das Clínicas |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0041-87812002000200006 |
Resumo: | A 7-year-old white boy was referred to us with a history of 3 attacks of hypogastric pain over the previous 2 years and persistently elevated serum amylase concentrations. At physical examination, he was well with no evidence of clinical abnormalities. His weight and height were normal. Laboratory diagnostic investigations were all normal except for the presence of Ascaris lumbricoides in the feces and persistently elevated serum amylase levels. Serum amylase determinations in the family members were normal in his father and maternal grandmother but elevated in his mother, sister, maternal aunt, and uncle, all of whom asymptomatic. Macroamylasemia was excluded in the child and in the mother. The finding of persistently elevated amylasemia in the child and in the other family members spanning 3 generations, and the exclusion of diseases that lead to hyperamilasemia are consistent with the diagnosis of familial hyperamylasemia. Until now, only 1 similar case has been reported. Familial hyperamylasemia must be considered in the differential diagnosis of hyperamylasemias in childhood. |
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Familial hyperamylasemiaHyperamylasemiaAmylaseIsoamylasesMacroamylasePancreatitisA 7-year-old white boy was referred to us with a history of 3 attacks of hypogastric pain over the previous 2 years and persistently elevated serum amylase concentrations. At physical examination, he was well with no evidence of clinical abnormalities. His weight and height were normal. Laboratory diagnostic investigations were all normal except for the presence of Ascaris lumbricoides in the feces and persistently elevated serum amylase levels. Serum amylase determinations in the family members were normal in his father and maternal grandmother but elevated in his mother, sister, maternal aunt, and uncle, all of whom asymptomatic. Macroamylasemia was excluded in the child and in the mother. The finding of persistently elevated amylasemia in the child and in the other family members spanning 3 generations, and the exclusion of diseases that lead to hyperamilasemia are consistent with the diagnosis of familial hyperamylasemia. Until now, only 1 similar case has been reported. Familial hyperamylasemia must be considered in the differential diagnosis of hyperamylasemias in childhood.Faculdade de Medicina / Universidade de São Paulo - FM/USP2002-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0041-87812002000200006Revista do Hospital das Clínicas v.57 n.2 2002reponame:Revista do Hospital das Clínicasinstname:Universidade de São Paulo (USP)instacron:USP10.1590/S0041-87812002000200006info:eu-repo/semantics/openAccessKoda,Yu Kar LingVidolin,Elianaeng2002-10-18T00:00:00Zoai:scielo:S0041-87812002000200006Revistahttp://www.scielo.br/rhcPUBhttps://old.scielo.br/oai/scielo-oai.php||revista.hc@hcnet.usp.br1678-99030041-8781opendoar:2002-10-18T00:00Revista do Hospital das Clínicas - Universidade de São Paulo (USP)false |
dc.title.none.fl_str_mv |
Familial hyperamylasemia |
title |
Familial hyperamylasemia |
spellingShingle |
Familial hyperamylasemia Koda,Yu Kar Ling Hyperamylasemia Amylase Isoamylases Macroamylase Pancreatitis |
title_short |
Familial hyperamylasemia |
title_full |
Familial hyperamylasemia |
title_fullStr |
Familial hyperamylasemia |
title_full_unstemmed |
Familial hyperamylasemia |
title_sort |
Familial hyperamylasemia |
author |
Koda,Yu Kar Ling |
author_facet |
Koda,Yu Kar Ling Vidolin,Eliana |
author_role |
author |
author2 |
Vidolin,Eliana |
author2_role |
author |
dc.contributor.author.fl_str_mv |
Koda,Yu Kar Ling Vidolin,Eliana |
dc.subject.por.fl_str_mv |
Hyperamylasemia Amylase Isoamylases Macroamylase Pancreatitis |
topic |
Hyperamylasemia Amylase Isoamylases Macroamylase Pancreatitis |
description |
A 7-year-old white boy was referred to us with a history of 3 attacks of hypogastric pain over the previous 2 years and persistently elevated serum amylase concentrations. At physical examination, he was well with no evidence of clinical abnormalities. His weight and height were normal. Laboratory diagnostic investigations were all normal except for the presence of Ascaris lumbricoides in the feces and persistently elevated serum amylase levels. Serum amylase determinations in the family members were normal in his father and maternal grandmother but elevated in his mother, sister, maternal aunt, and uncle, all of whom asymptomatic. Macroamylasemia was excluded in the child and in the mother. The finding of persistently elevated amylasemia in the child and in the other family members spanning 3 generations, and the exclusion of diseases that lead to hyperamilasemia are consistent with the diagnosis of familial hyperamylasemia. Until now, only 1 similar case has been reported. Familial hyperamylasemia must be considered in the differential diagnosis of hyperamylasemias in childhood. |
publishDate |
2002 |
dc.date.none.fl_str_mv |
2002-01-01 |
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=S0041-87812002000200006 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0041-87812002000200006 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/S0041-87812002000200006 |
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 |
Faculdade de Medicina / Universidade de São Paulo - FM/USP |
publisher.none.fl_str_mv |
Faculdade de Medicina / Universidade de São Paulo - FM/USP |
dc.source.none.fl_str_mv |
Revista do Hospital das Clínicas v.57 n.2 2002 reponame:Revista do Hospital das Clínicas instname:Universidade de São Paulo (USP) instacron:USP |
instname_str |
Universidade de São Paulo (USP) |
instacron_str |
USP |
institution |
USP |
reponame_str |
Revista do Hospital das Clínicas |
collection |
Revista do Hospital das Clínicas |
repository.name.fl_str_mv |
Revista do Hospital das Clínicas - Universidade de São Paulo (USP) |
repository.mail.fl_str_mv |
||revista.hc@hcnet.usp.br |
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1754820894452088832 |