Tahlil

Ailevi Akdeniz Ateşi (FMF) Mutasyon Analizi

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

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. [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. [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. [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 →
  4. [4]Ozen S. Update in familial Mediterranean fever.”. Current opinion in rheumatology. 2021. PMID: 34397603. PubMed →
  5. [5]Ozen S. Update in familial Mediterranean fever.”. Current opinion in rheumatology. 2021. PMID: 34397603. PubMed →
  6. [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. [7]Onen F. Familial Mediterranean fever.”. Rheumatology international. 2006. PMID: 16283319. PubMed →
  8. [8]Onen F. Familial Mediterranean fever.”. Rheumatology international. 2006. PMID: 16283319. PubMed →
  9. [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 →
Paylaş: