急性纤溶酶血症是一种罕见的遗传性疾病:单中心报告4例。

Q3 Medicine
Baylor University Medical Center Proceedings Pub Date : 2024-11-12 eCollection Date: 2025-01-01 DOI:10.1080/08998280.2024.2423506
Zülal İstemihan, Ziya İmanov, Bilger Çavuş, Aslı Çifcibaşı Örmeci, Filiz Akyüz, Fatih Beşışık, Sabahattin Kaymakoğlu, Kadir Demir
{"title":"急性纤溶酶血症是一种罕见的遗传性疾病:单中心报告4例。","authors":"Zülal İstemihan, Ziya İmanov, Bilger Çavuş, Aslı Çifcibaşı Örmeci, Filiz Akyüz, Fatih Beşışık, Sabahattin Kaymakoğlu, Kadir Demir","doi":"10.1080/08998280.2024.2423506","DOIUrl":null,"url":null,"abstract":"<p><p>Aceruloplasminemia, which is a very rare iron metabolism disorder, may present with extremely nonspecific complaints, and disease screening should be considered, especially in patients with consanguineous marriages. We share four cases diagnosed with aceruloplasminemia and their characteristics. The first three cases were related to each other and have consanguineous marriages in their family history. Our first and fourth cases were diagnosed with aceruloplasminemia upon detecting hypochromic microcytic anemia, low transferrin saturation, and a high ferritin level in the examinations performed after a nonspecific complaint such as fatigue. Even though the second and third cases had no complaints, they were diagnosed during screening tests because they were relatives of the first case.</p>","PeriodicalId":8828,"journal":{"name":"Baylor University Medical Center Proceedings","volume":"38 2","pages":"195-198"},"PeriodicalIF":0.0000,"publicationDate":"2024-11-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11844920/pdf/","citationCount":"0","resultStr":"{\"title\":\"Aceruloplasminemia as a rare hereditary disease: four case reports in a single center.\",\"authors\":\"Zülal İstemihan, Ziya İmanov, Bilger Çavuş, Aslı Çifcibaşı Örmeci, Filiz Akyüz, Fatih Beşışık, Sabahattin Kaymakoğlu, Kadir Demir\",\"doi\":\"10.1080/08998280.2024.2423506\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Aceruloplasminemia, which is a very rare iron metabolism disorder, may present with extremely nonspecific complaints, and disease screening should be considered, especially in patients with consanguineous marriages. We share four cases diagnosed with aceruloplasminemia and their characteristics. The first three cases were related to each other and have consanguineous marriages in their family history. Our first and fourth cases were diagnosed with aceruloplasminemia upon detecting hypochromic microcytic anemia, low transferrin saturation, and a high ferritin level in the examinations performed after a nonspecific complaint such as fatigue. Even though the second and third cases had no complaints, they were diagnosed during screening tests because they were relatives of the first case.</p>\",\"PeriodicalId\":8828,\"journal\":{\"name\":\"Baylor University Medical Center Proceedings\",\"volume\":\"38 2\",\"pages\":\"195-198\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-11-12\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11844920/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Baylor University Medical Center Proceedings\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1080/08998280.2024.2423506\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q3\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Baylor University Medical Center Proceedings","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1080/08998280.2024.2423506","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/1/1 0:00:00","PubModel":"eCollection","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0

摘要

紫纤溶酶血症是一种非常罕见的铁代谢障碍,可能会出现非常非特异性的主诉,应该考虑进行疾病筛查,特别是在近亲结婚的患者中。我们分享4例诊断为急性纤溶酶血症的病例及其特点。前3例患者家族史上均有近亲婚姻关系。我们的第一个和第四个病例在检测到低色素小细胞贫血,低转铁蛋白饱和度和高铁蛋白水平后,在非特异性主诉(如疲劳)后进行的检查中被诊断为急性纤溶酶血症。尽管第二和第三例患者没有任何症状,但由于他们是第一例患者的亲属,因此在筛查检查中被诊断出来。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Aceruloplasminemia as a rare hereditary disease: four case reports in a single center.

Aceruloplasminemia, which is a very rare iron metabolism disorder, may present with extremely nonspecific complaints, and disease screening should be considered, especially in patients with consanguineous marriages. We share four cases diagnosed with aceruloplasminemia and their characteristics. The first three cases were related to each other and have consanguineous marriages in their family history. Our first and fourth cases were diagnosed with aceruloplasminemia upon detecting hypochromic microcytic anemia, low transferrin saturation, and a high ferritin level in the examinations performed after a nonspecific complaint such as fatigue. Even though the second and third cases had no complaints, they were diagnosed during screening tests because they were relatives of the first case.

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
CiteScore
1.30
自引率
0.00%
发文量
245
×
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