{"title":"Familial Mediterranean fever in Romania: a case report and literature review.","authors":"Alin Iuhas, Cristian Marinău, Larisa Niulaș, Zsolt Futaki, Andreea Balmoș, Kinga Kozma, Mirela Indrieș, Cristian Sava","doi":"10.3389/fped.2024.1546387","DOIUrl":null,"url":null,"abstract":"<p><p>Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory disease characterized by recurrent fever and systemic inflammation, most prevalent in Eastern Mediterranean populations. Rare in regions like Romania, FMF presents diagnostic challenges and risks severe complications if untreated. We report a 7-year-old Romanian girl, from a non-classical ethnic background, with recurrent febrile episodes and elevated inflammatory markers. Genetic testing confirmed a homozygous <i>MEFV</i> c.2082G>A (p.Met694Ile) variant. Colchicine therapy reduced flare frequency and normalized inflammatory markers. FMF should be considered in atypical populations with recurrent inflammation. Genetic testing aids diagnosis in non-endemic regions, enabling early colchicine treatment to prevent complications.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"12 ","pages":"1546387"},"PeriodicalIF":2.1000,"publicationDate":"2025-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11774843/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Frontiers in Pediatrics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.3389/fped.2024.1546387","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/1/1 0:00:00","PubModel":"eCollection","JCR":"Q2","JCRName":"PEDIATRICS","Score":null,"Total":0}
引用次数: 0
Abstract
Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory disease characterized by recurrent fever and systemic inflammation, most prevalent in Eastern Mediterranean populations. Rare in regions like Romania, FMF presents diagnostic challenges and risks severe complications if untreated. We report a 7-year-old Romanian girl, from a non-classical ethnic background, with recurrent febrile episodes and elevated inflammatory markers. Genetic testing confirmed a homozygous MEFV c.2082G>A (p.Met694Ile) variant. Colchicine therapy reduced flare frequency and normalized inflammatory markers. FMF should be considered in atypical populations with recurrent inflammation. Genetic testing aids diagnosis in non-endemic regions, enabling early colchicine treatment to prevent complications.
期刊介绍：
Frontiers in Pediatrics (Impact Factor 2.33) publishes rigorously peer-reviewed research broadly across the field, from basic to clinical research that meets ongoing challenges in pediatric patient care and child health. Field Chief Editors Arjan Te Pas at Leiden University and Michael L. Moritz at the Children''s Hospital of Pittsburgh are supported by an outstanding Editorial Board of international experts. This multidisciplinary open-access journal is at the forefront of disseminating and communicating scientific knowledge and impactful discoveries to researchers, academics, clinicians and the public worldwide.
Frontiers in Pediatrics also features Research Topics, Frontiers special theme-focused issues managed by Guest Associate Editors, addressing important areas in pediatrics. In this fashion, Frontiers serves as an outlet to publish the broadest aspects of pediatrics in both basic and clinical research, including high-quality reviews, case reports, editorials and commentaries related to all aspects of pediatrics.
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