变异型甲状腺转蛋白淀粉样变性(A-ATTRv)的小肠细菌过度生长。

IF 3.4 2区 医学 Q2 GENETICS & HEREDITY
Ana Moreno García, Mireia Grimalt Oliver, Juan González-Moreno, María Antonia Ribot-Sansó, Eugenia Cisneros-Barroso, Inés Losada López
{"title":"变异型甲状腺转蛋白淀粉样变性(A-ATTRv)的小肠细菌过度生长。","authors":"Ana Moreno García, Mireia Grimalt Oliver, Juan González-Moreno, María Antonia Ribot-Sansó, Eugenia Cisneros-Barroso, Inés Losada López","doi":"10.1186/s13023-025-03727-y","DOIUrl":null,"url":null,"abstract":"<p><p>Variant transthyretin amyloidosis (A-ATTRv) can lead to sensory, motor, and autonomic neuropathy, as well as a variety of gastrointestinal (GI) disorders. While previous studies have explored gastrointestinal symptoms in A-ATTRv, no studies have definitively examined the role of bacterial overgrowth, such as SIBO, in exacerbating these symptoms. Identifying the presence of SIBO in A-ATTRv patients could lead to better-targeted treatments for gastrointestinal complications.We conducted a cross-sectional, unicentric observational pilot study, analysing the presence of SIBO using a lactitol breath test in 39 individuals carrying the V30M mutation: 21 asymptomatic carriers and 18 patients with A-ATTRv. We did not find a higher prevalence of SIBO, among patients with A-ATTRv compared to asymptomatic carriers. Though no significant relationship between SIBO and A-ATTRv was found, notable differences in gastrointestinal symptoms suggest these may be independent of SIBO. Furthermore, no relationship was found between the presence of SIBO and gender.Given the limitations of this pilot study, we did not find a relationship between A-ATTRv and intestinal microbiota disorders. Future research with larger sample sizes and more sensitive diagnostic tools is required to further explore this potential link.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"210"},"PeriodicalIF":3.4000,"publicationDate":"2025-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12048951/pdf/","citationCount":"0","resultStr":"{\"title\":\"Small intestinal bacterial overgrowth in variant transthyretin amyloidosis (A-ATTRv).\",\"authors\":\"Ana Moreno García, Mireia Grimalt Oliver, Juan González-Moreno, María Antonia Ribot-Sansó, Eugenia Cisneros-Barroso, Inés Losada López\",\"doi\":\"10.1186/s13023-025-03727-y\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Variant transthyretin amyloidosis (A-ATTRv) can lead to sensory, motor, and autonomic neuropathy, as well as a variety of gastrointestinal (GI) disorders. While previous studies have explored gastrointestinal symptoms in A-ATTRv, no studies have definitively examined the role of bacterial overgrowth, such as SIBO, in exacerbating these symptoms. Identifying the presence of SIBO in A-ATTRv patients could lead to better-targeted treatments for gastrointestinal complications.We conducted a cross-sectional, unicentric observational pilot study, analysing the presence of SIBO using a lactitol breath test in 39 individuals carrying the V30M mutation: 21 asymptomatic carriers and 18 patients with A-ATTRv. We did not find a higher prevalence of SIBO, among patients with A-ATTRv compared to asymptomatic carriers. Though no significant relationship between SIBO and A-ATTRv was found, notable differences in gastrointestinal symptoms suggest these may be independent of SIBO. Furthermore, no relationship was found between the presence of SIBO and gender.Given the limitations of this pilot study, we did not find a relationship between A-ATTRv and intestinal microbiota disorders. Future research with larger sample sizes and more sensitive diagnostic tools is required to further explore this potential link.</p>\",\"PeriodicalId\":19651,\"journal\":{\"name\":\"Orphanet Journal of Rare Diseases\",\"volume\":\"20 1\",\"pages\":\"210\"},\"PeriodicalIF\":3.4000,\"publicationDate\":\"2025-05-02\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12048951/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Orphanet Journal of Rare Diseases\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1186/s13023-025-03727-y\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Orphanet Journal of Rare Diseases","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1186/s13023-025-03727-y","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0

摘要

变异型甲状腺转视蛋白淀粉样变(a - attrv)可导致感觉、运动和自主神经病变,以及各种胃肠道(GI)疾病。虽然以前的研究已经探讨了A-ATTRv的胃肠道症状,但没有研究明确地检查细菌过度生长(如SIBO)在加剧这些症状中的作用。识别A-ATTRv患者中SIBO的存在可能会导致对胃肠道并发症的更有针对性的治疗。我们进行了一项横断面、单中心观察性初步研究,使用乳酸醇呼吸试验分析了39名携带V30M突变的个体SIBO的存在:21名无症状携带者和18名a - attrv患者。我们没有发现与无症状携带者相比,a - attrv患者中SIBO的患病率更高。虽然没有发现SIBO和A-ATTRv之间的显著关系,但胃肠道症状的显著差异提示这些症状可能独立于SIBO。此外,SIBO的存在与性别之间没有关系。鉴于这项初步研究的局限性,我们没有发现a - attrv与肠道微生物群紊乱之间的关系。未来的研究需要更大的样本量和更灵敏的诊断工具来进一步探索这种潜在的联系。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Small intestinal bacterial overgrowth in variant transthyretin amyloidosis (A-ATTRv).

Variant transthyretin amyloidosis (A-ATTRv) can lead to sensory, motor, and autonomic neuropathy, as well as a variety of gastrointestinal (GI) disorders. While previous studies have explored gastrointestinal symptoms in A-ATTRv, no studies have definitively examined the role of bacterial overgrowth, such as SIBO, in exacerbating these symptoms. Identifying the presence of SIBO in A-ATTRv patients could lead to better-targeted treatments for gastrointestinal complications.We conducted a cross-sectional, unicentric observational pilot study, analysing the presence of SIBO using a lactitol breath test in 39 individuals carrying the V30M mutation: 21 asymptomatic carriers and 18 patients with A-ATTRv. We did not find a higher prevalence of SIBO, among patients with A-ATTRv compared to asymptomatic carriers. Though no significant relationship between SIBO and A-ATTRv was found, notable differences in gastrointestinal symptoms suggest these may be independent of SIBO. Furthermore, no relationship was found between the presence of SIBO and gender.Given the limitations of this pilot study, we did not find a relationship between A-ATTRv and intestinal microbiota disorders. Future research with larger sample sizes and more sensitive diagnostic tools is required to further explore this potential link.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases 医学-医学:研究与实验
CiteScore
6.30
自引率
8.10%
发文量
418
审稿时长
4-8 weeks
期刊介绍: Orphanet Journal of Rare Diseases is an open access, peer-reviewed journal that encompasses all aspects of rare diseases and orphan drugs. The journal publishes high-quality reviews on specific rare diseases. In addition, the journal may consider articles on clinical trial outcome reports, either positive or negative, and articles on public health issues in the field of rare diseases and orphan drugs. The journal does not accept case reports.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信