[鱼腥味综合征：一种社交障碍性疾病]
[Fish odor syndrome: A socially disabling disorder].
作者信息
Nicolas S, Blasco H, Bigot A, Tressel N, Hennart B, Maillot F
机构信息
Service de médecine interne, CHRU de Tours, Tours, France; Université de Tours, Tours, France.
Université de Tours, Tours, France; Inserm U1253, Tours, France; Laboratoires de biochimie et biologie moléculaire, CHRU de Tours, Tours, France.
出版信息
Rev Med Interne. 2022 Mar;43(3):178-180. doi: 10.1016/j.revmed.2021.12.010. Epub 2022 Jan 7.
INTRODUCTION
Fish odor syndrome (FOS) is a rare metabolic disorder that manifests as "rotten fish" body odor and is caused by the excretion of trimethylamine (TMA) in body fluids. This disease can have a negative impact on the social life of affected patients.
CASE REPORTS
We report the case of two female patients complaining about unpleasant body odor. The diagnosis of FOS was confirmed by the demonstration of trimethylaminuria by NMR spectroscopy and by molecular analysis of the FMO3 gene. A restrictive choline diet combined with digestive decontamination reduced odor symptoms and improved the social life of these 2 patients.
CONCLUSIONS
Fish odor syndrome is a rare and unrecognized disease that can affect the quality of life of affected persons. Following laboratory diagnosis, treatment is often effective.
引言
鱼腥味综合征（FOS）是一种罕见的代谢紊乱疾病，表现为“腐鱼”体味，由体液中三甲胺（TMA）的排泄引起。这种疾病会对受影响患者的社交生活产生负面影响。
病例报告
我们报告了两名女性患者抱怨身体有难闻气味的病例。通过核磁共振波谱法证实三甲胺尿症以及对FMO3基因进行分子分析，确诊为鱼腥味综合征。限制胆碱饮食并结合消化去污减轻了气味症状，改善了这两名患者的社交生活。
结论
鱼腥味综合征是一种罕见且未被认识的疾病，会影响患者的生活质量。经过实验室诊断后，治疗通常是有效的。
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