Pancreatitis as the first manifestation of multiple endocrine neoplasia type 2A

Detalhes bibliográficos
Autor(a) principal: Dora,José Miguel
Data de Publicação: 2008
Outros Autores: Siqueira,Débora Rodrigues, Meyer,Erika L. Souza, Puñales,Márcia Khaled, Maia,Ana Luiza
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Arquivos Brasileiros de Endocrinologia & Metabologia (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27302008000800021
Resumo: Multiple endocrine neoplasia type 2A (MEN2A) is an autosomal dominant inherited condition that predisposes to the triad of medullary thyroid cancer (MTC), pheochromocytoma (Pheo), and primary hyperparathyroidism (PHT). Nearly 100% of MEN2A are associated with germ line mutation of the RET proto-oncogene (RET), and DNA-based RET genotype analysis is now considered essential for earlier diagnosis. The first manifestation of MEN2A is most often due to MTC, and less frequently to Pheo. Rarely, MEN2A is recognized during the search for PHT associated conditions. Most patients with primary hyperparathyroidism are asymptomatic, and the focus of the presentation may be the side effects of chronic hypercalcemia, osteoporosis, renal lithiasis, peptic ulcer disease, and hypertension. Hypercalcemic pancreatitis is rare, being an uncommon first manifestation of PHT. Here, we report on a patient who presented recurrent pancreatitis as the first manifestation of MEN2A. In the present case, prompt sequential dosage of calcium, diagnosis of PHT, and genetic analysis would have resulted in pancreatitis prevention and early MEN2A management.
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spelling Pancreatitis as the first manifestation of multiple endocrine neoplasia type 2APancreatitisMultiple endocrine neoplasia type 2Primary hyperparathyroidismMedullary thyroid carcinomaMolecular diagnosisMultiple endocrine neoplasia type 2A (MEN2A) is an autosomal dominant inherited condition that predisposes to the triad of medullary thyroid cancer (MTC), pheochromocytoma (Pheo), and primary hyperparathyroidism (PHT). Nearly 100% of MEN2A are associated with germ line mutation of the RET proto-oncogene (RET), and DNA-based RET genotype analysis is now considered essential for earlier diagnosis. The first manifestation of MEN2A is most often due to MTC, and less frequently to Pheo. Rarely, MEN2A is recognized during the search for PHT associated conditions. Most patients with primary hyperparathyroidism are asymptomatic, and the focus of the presentation may be the side effects of chronic hypercalcemia, osteoporosis, renal lithiasis, peptic ulcer disease, and hypertension. Hypercalcemic pancreatitis is rare, being an uncommon first manifestation of PHT. Here, we report on a patient who presented recurrent pancreatitis as the first manifestation of MEN2A. In the present case, prompt sequential dosage of calcium, diagnosis of PHT, and genetic analysis would have resulted in pancreatitis prevention and early MEN2A management.Sociedade Brasileira de Endocrinologia e Metabologia2008-11-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27302008000800021Arquivos Brasileiros de Endocrinologia & Metabologia v.52 n.8 2008reponame:Arquivos Brasileiros de Endocrinologia & Metabologia (Online)instname:Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)instacron:SBEM10.1590/S0004-27302008000800021info:eu-repo/semantics/openAccessDora,José MiguelSiqueira,Débora RodriguesMeyer,Erika L. SouzaPuñales,Márcia KhaledMaia,Ana Luizaeng2009-03-24T00:00:00Zoai:scielo:S0004-27302008000800021Revistahttps://www.aem-sbem.com/ONGhttps://old.scielo.br/oai/scielo-oai.php||abem-editoria@endocrino.org.br1677-94870004-2730opendoar:2009-03-24T00:00Arquivos Brasileiros de Endocrinologia & Metabologia (Online) - Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)false
dc.title.none.fl_str_mv Pancreatitis as the first manifestation of multiple endocrine neoplasia type 2A
title Pancreatitis as the first manifestation of multiple endocrine neoplasia type 2A
spellingShingle Pancreatitis as the first manifestation of multiple endocrine neoplasia type 2A
Dora,José Miguel
Pancreatitis
Multiple endocrine neoplasia type 2
Primary hyperparathyroidism
Medullary thyroid carcinoma
Molecular diagnosis
title_short Pancreatitis as the first manifestation of multiple endocrine neoplasia type 2A
title_full Pancreatitis as the first manifestation of multiple endocrine neoplasia type 2A
title_fullStr Pancreatitis as the first manifestation of multiple endocrine neoplasia type 2A
title_full_unstemmed Pancreatitis as the first manifestation of multiple endocrine neoplasia type 2A
title_sort Pancreatitis as the first manifestation of multiple endocrine neoplasia type 2A
author Dora,José Miguel
author_facet Dora,José Miguel
Siqueira,Débora Rodrigues
Meyer,Erika L. Souza
Puñales,Márcia Khaled
Maia,Ana Luiza
author_role author
author2 Siqueira,Débora Rodrigues
Meyer,Erika L. Souza
Puñales,Márcia Khaled
Maia,Ana Luiza
author2_role author
author
author
author
dc.contributor.author.fl_str_mv Dora,José Miguel
Siqueira,Débora Rodrigues
Meyer,Erika L. Souza
Puñales,Márcia Khaled
Maia,Ana Luiza
dc.subject.por.fl_str_mv Pancreatitis
Multiple endocrine neoplasia type 2
Primary hyperparathyroidism
Medullary thyroid carcinoma
Molecular diagnosis
topic Pancreatitis
Multiple endocrine neoplasia type 2
Primary hyperparathyroidism
Medullary thyroid carcinoma
Molecular diagnosis
description Multiple endocrine neoplasia type 2A (MEN2A) is an autosomal dominant inherited condition that predisposes to the triad of medullary thyroid cancer (MTC), pheochromocytoma (Pheo), and primary hyperparathyroidism (PHT). Nearly 100% of MEN2A are associated with germ line mutation of the RET proto-oncogene (RET), and DNA-based RET genotype analysis is now considered essential for earlier diagnosis. The first manifestation of MEN2A is most often due to MTC, and less frequently to Pheo. Rarely, MEN2A is recognized during the search for PHT associated conditions. Most patients with primary hyperparathyroidism are asymptomatic, and the focus of the presentation may be the side effects of chronic hypercalcemia, osteoporosis, renal lithiasis, peptic ulcer disease, and hypertension. Hypercalcemic pancreatitis is rare, being an uncommon first manifestation of PHT. Here, we report on a patient who presented recurrent pancreatitis as the first manifestation of MEN2A. In the present case, prompt sequential dosage of calcium, diagnosis of PHT, and genetic analysis would have resulted in pancreatitis prevention and early MEN2A management.
publishDate 2008
dc.date.none.fl_str_mv 2008-11-01
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=S0004-27302008000800021
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27302008000800021
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S0004-27302008000800021
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
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dc.publisher.none.fl_str_mv Sociedade Brasileira de Endocrinologia e Metabologia
publisher.none.fl_str_mv Sociedade Brasileira de Endocrinologia e Metabologia
dc.source.none.fl_str_mv Arquivos Brasileiros de Endocrinologia & Metabologia v.52 n.8 2008
reponame:Arquivos Brasileiros de Endocrinologia & Metabologia (Online)
instname:Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)
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