Ailevi Akdeniz Ateşi (FMF) Mutasyon Analizi
Sanal Hastane||1 dk okuma

PCR-REA yöntemi ile analiz edilir.
Klinik kullanımı :
FMF, yinelenen ataklarla, ateşlenmeleri takip eden karın, göğüs ve
eklem ağrıları ile kendini belli eden kalıtsal bir hastalıktır. Bu test ile
FMF ‘e neden olabilecek bazı mutasyonlara bakılmaktadır
Kaynaklar ve Referanslar
- [1]Urgancı N, Ozgenc F, KuloÄŸlu Z, et al. “Familial Mediterranean Fever Mutation Analysis in Pediatric Patients With İnflammatory Bowel Disease: A Multicenter Study.”. The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology. 2021. PMID: 34160354. PubMed →
- [2]Urgancı N, Ozgenc F, KuloÄŸlu Z, et al. “Familial Mediterranean Fever Mutation Analysis in Pediatric Patients With İnflammatory Bowel Disease: A Multicenter Study.”. The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology. 2021. PMID: 34160354. PubMed →
- [3]Mahe I, Billard C, Anselmi F, Rossi-Semerano L, Galeotti C, Kone-Paut I, Dusser P. “Beyond genotype: clustering analysis highlights clinical heterogeneity in paediatric familial Mediterranean fever”. RMD Open. 2026. PMID: 42399078. PubMed →
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- [5]Ozen S. “Update in familial Mediterranean fever.”. Current opinion in rheumatology. 2021. PMID: 34397603. PubMed →
- [6]Menentoglu B, Arik SD, Prencuva Akyurek P, Akgun O, Aktay Ayaz N. “Comparative analysis of exon 10 and non-exon 10 variants in children with familial mediterranean fever: a retrospective cohort study”. European Journal of Pediatrics. 2026. PMID: 41801261. PubMed →
- [7]Onen F. “Familial Mediterranean fever.”. Rheumatology international. 2006. PMID: 16283319. PubMed →
- [8]Onen F. “Familial Mediterranean fever.”. Rheumatology international. 2006. PMID: 16283319. PubMed →
- [9]Ilgaz Tuzen H, Yardimci Y, Gunes Yilmaz S, Kanik A, Kasap Demir B. “Validity of the Eurofever/PRINTO genetic FMF classification criteria in FMF and PFAPA patients carrying non-confirmatory MEFV gene mutations”. Clinical Rheumatology. 2025. PMID: 41313543. PubMed →


