Suppr超能文献

长期腹膜发作:家族性地中海热一种罕见但关键的临床表现

Prolonged Peritoneal Attack: A Rare but Crucial Clinical Presentation of Familial Mediterranean Fever.

作者信息

Fujikawa Hirohisa, Ando Takayuki, Hirahashi Junichi

机构信息

Center for General Medicine Education, School of Medicine, Keio University, Tokyo, JPN.

出版信息

Cureus. 2024 Sep 10;16(9):e69117. doi: 10.7759/cureus.69117. eCollection 2024 Sep.

Abstract

Familial Mediterranean fever (FMF) presents with various symptoms. Episodic abdominal pain is one of the most prevalent clinical characteristics of FMF and usually improves within 24-48 hours. We encountered a 50-year-old male patient from Japan who experienced recurrent episodes (several episodes occurring per year) of abdominal pain with fever since his late 20s. The abdominal pain and fever began almost simultaneously in each episode. The abdominal pain typically lasted for 1-2 weeks, while the fever subsided within two days. He remained as immobile as possible because walking worsened the pain. MEditerranean FeVer () gene analysis revealed exon 10 mutations (p.Met694Ile), resulting in an FMF diagnosis. Colchicine therapy effectively controlled the patient's FMF attacks. Although prolonged abdominal pain lasting over a week is an uncommon clinical characteristic of FMF, a proper diagnosis can improve the quality of life and prevent secondary amyloidosis. Therefore, clinicians should be aware of this rare clinical characteristic.

摘要

家族性地中海热(FMF)有多种症状。发作性腹痛是FMF最常见的临床特征之一,通常在24 - 48小时内缓解。我们遇到一名来自日本的50岁男性患者,自20多岁起就反复出现腹痛伴发热(每年发作数次)。每次发作时腹痛和发热几乎同时开始。腹痛通常持续1 - 2周,而发热在两天内消退。由于行走会加重疼痛,他尽可能保持不动。地中海热(MEFV)基因分析显示第10外显子突变(p.Met694Ile),从而确诊为FMF。秋水仙碱治疗有效控制了患者的FMF发作。虽然持续一周以上的长时间腹痛是FMF不常见的临床特征,但正确诊断可改善生活质量并预防继发性淀粉样变性。因此,临床医生应了解这一罕见的临床特征。

相似文献

1
Prolonged Peritoneal Attack: A Rare but Crucial Clinical Presentation of Familial Mediterranean Fever.
Cureus. 2024 Sep 10;16(9):e69117. doi: 10.7759/cureus.69117. eCollection 2024 Sep.
4
Atypical Familial Mediterranean Fever Presenting with Recurrent Upper Back Pain: A Case Report.
Tohoku J Exp Med. 2023 Jun 9;260(2):165-169. doi: 10.1620/tjem.2023.J030. Epub 2023 Apr 13.
5
Case Report: A Pediatric Case of Familial Mediterranean Fever Concurrent With Autoimmune Hepatitis.
Front Immunol. 2022 Jun 24;13:917398. doi: 10.3389/fimmu.2022.917398. eCollection 2022.
7
A rare cause of fever in an adult: a case of familial Mediterranean fever.
Int Med Case Rep J. 2018 Mar 13;11:37-40. doi: 10.2147/IMCRJ.S148205. eCollection 2018.
8
The grandfather's fever.
Clin Rheumatol. 2020 Feb;39(2):585-594. doi: 10.1007/s10067-019-04741-9. Epub 2019 Aug 10.
9
Mesothelioma in Familial Mediterranean Fever With Colchicine Intolerance: A Case Report and Literature Review.
Front Immunol. 2020 May 13;11:889. doi: 10.3389/fimmu.2020.00889. eCollection 2020.
10
Colchicine-resistant sacroiliitis in a Japanese patient with familial Mediterranean fever.
Mod Rheumatol Case Rep. 2023 Dec 29;8(1):215-218. doi: 10.1093/mrcr/rxad050.

引用本文的文献

本文引用的文献

2
Familial Mediterranean fever, from pathogenesis to treatment: a contemporary review.
Turk J Med Sci. 2020 Nov 3;50(SI-2):1591-1610. doi: 10.3906/sag-2008-11.
4
Global epidemiology of Familial Mediterranean fever mutations using population exome sequences.
Mol Genet Genomic Med. 2015 Jul;3(4):272-82. doi: 10.1002/mgg3.140. Epub 2015 Apr 5.
6
A rare cause of massive ascites: familial Mediterranean fever.
Turk J Gastroenterol. 2012 Jun;23(3):290-3. doi: 10.4318/tjg.2012.0374.
7
Familial Mediterranean fever--a review.
Genet Med. 2011 Jun;13(6):487-98. doi: 10.1097/GIM.0b013e3182060456.
9
Familial Mediterranean fever--a not so unusual cause of abdominal pain.
Best Pract Res Clin Gastroenterol. 2005 Apr;19(2):199-213. doi: 10.1016/j.bpg.2004.11.009.
10
Familial Mediterranean fever. A survey of 470 cases and review of the literature.
Am J Med. 1967 Aug;43(2):227-53. doi: 10.1016/0002-9343(67)90167-2.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验