非特异性胃肠道症状是家族性淀粉样变性多发性神经病 PAF-TTR 的一种表现形式。病例报告

Q4 Medicine

Neurologia Argentina Pub Date : 2023-10-01 DOI:10.1016/j.neuarg.2023.10.001

Esteban Leonardo Calabrese, German Victor Ramon Calabrese

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引用次数: 0

摘要

导言家族性转甲状腺素淀粉样变性多发性神经病（FAP-TTR）是一种常染色体显性遗传病。它通常表现为心肌病和多发性神经病，但胃肠道（GI）症状也很常见。我们报告了一名患有 AF-TTR 并伴有初期消化道症状的患者。病史：腹泻与便秘交替出现，体重减轻，诊断为肠易激综合征。体格检查冷热敏感试验有变化。感觉运动性轴索多发性神经病神经传导检查。转甲状腺素基因分析p.Val50Met杂合子变异，诊断为PAF-TTR。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

Síntomas gastrointestinales inespecíficos como forma de presentación de polineuropatía amiloidótica familiar PAF-TTR. Reporte de un caso

Introduction

Familial transthyretin amyloidotic polyneuropathy (FAP-TTR), an autosomal dominant disease. It generally manifests with cardiomyopathy and polyneuropathy, however, gastrointestinal (GI) symptoms are common. We report a patient with AF-TTR and initial GI symptoms.

Clinical case

A 67-year-old man presented with burning neuropathic pain. History, diarrhea alternating with constipation and weight loss, diagnosis of irritable bowel. Physical examination alteration of hot-cold sensitivity tests. Sensorimotor axonal polyneuropathy nerve conduction study. Transthyretin gene analysis heterozygous variant p.Val50Met, PAF-TTR diagnosis.

Conclusions

The non-specificity of GI symptoms at the onset of the condition is a challenge in the diagnostic suspicion of this entity.

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来源期刊

Neurologia Argentina Medicine-Neurology (clinical)

CiteScore

0.50

自引率

0.00%

发文量

期刊介绍： Neurología Argentina es la publicación oficial de la Sociedad Neurológica Argentina. Todos los artículos, publicados en español, son sometidos a un proceso de revisión sobre ciego por pares con la finalidad de ofrecer información original, relevante y de alta calidad que abarca todos los aspectos de la Neurología y la Neurociencia.