{"title":"Diarreia crônica","authors":"Sheila Ferreiraa, Miriam Magalhãesa, Isabel Cotrimb, Renato Saraivaa","doi":"10.5935/978-65-5848-384-7.c0001","DOIUrl":null,"url":null,"abstract":"We report a case of a 46-year old woman with chronic diarrhoea for the previous eight years associated with significant weight loss. Subsequently the patient developed neurological symptoms with recurrent syncope events as well as urinary and anal incontinence. The diagnostic approach included a detailed clinical history and physical examination plus laboratory, endoscopic, radiology and neurological exams. A definitive diagnosis was made of familial amyloidotic polyneuropathy after confirmation of the specific protein mutation -TTRMet30linked to this condition. The patient underwent successful liver transplantation. © 2010 Sociedade Portuguesa de Gastrenterologia Published by Elsevier España, S.L. All rights","PeriodicalId":158825,"journal":{"name":"PROEMPED: Programa de Atualização em Emergência Pediátrica: Ciclo 5: Volume 1","volume":"30 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"PROEMPED: Programa de Atualização em Emergência Pediátrica: Ciclo 5: Volume 1","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.5935/978-65-5848-384-7.c0001","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Diarreia crô)
我们报告一例46岁的妇女慢性腹泻在过去的八年与显著体重减轻。随后患者出现神经系统症状，伴有反复的晕厥事件以及尿失禁和肛门失禁。诊断方法包括详细的临床病史和体格检查，再加上实验室、内窥镜、放射学和神经学检查。确诊为家族性淀粉样变性多神经病变后，特异性蛋白突变- ttrmet30与此病相关。病人接受了成功的肝移植。©2010 Sociedade portuesa de Gastrenterologia出版社Elsevier España, S.L.版权所有
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