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Dis Esophagus ; 18(5): 335-7, 2005.
Artigo em Inglês | MEDLINE | ID: mdl-16197535

RESUMO

Achalasia, a poorly relaxing lower esophageal sphincter, produces a functional obstruction and the expected symptoms of dysphagia, regurgitation and eventually weight loss. The cause of achalasia remains largely unknown in Western countries, Chagas' disease being the most frequent etiology in Brazil. We report on two sets of monozygotic male twins with typical manifestations of achalasia. The majority of authors attribute a limited contribution unless achalasia is related to a multisystem disorder, like the triple-A or Allgrove's syndrome, an autosomal recessive disease characterized by the triad of adrenocorticotropic hormone (ACTH) resistant adrenal insufficiency, achalasia and alacrima. The four cases reported demonstrated the genetic influence of achalasia in patients without multisystem disorders. We believe that idiopathic achalasia is a syndrome with similar clinical, pathological, radiological and manometric evolution, but with a great variety of etiological agents, one of them being the congenital form.


Assuntos
Doenças em Gêmeos/genética , Acalasia Esofágica/genética , Adolescente , Doenças em Gêmeos/congênito , Acalasia Esofágica/congênito , Acalasia Esofágica/diagnóstico , Acalasia Esofágica/patologia , Humanos , Masculino , Pessoa de Meia-Idade
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