Research Article
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Year 2024, Volume: 14 Issue: 3, 284 - 289, 31.12.2024

Abstract

References

  • 1. Tunca, M., Ozdogan, H., Kasapcopur, O., Yalcinkaya, F., Tutar, E., Topaloglu, R, et al. Familial Mediterrane an fever FMF) in Turkey: results of a nationwide multicenterstudy. Medicine (Baltimore) 2005;84(1):1–11.
  • 2. Consortium FF. A candidate gene for familial Mediterranean fever. Nature genetics. 1997;17(1):25.
  • 3. Örün E, Yalçınkaya F. ‘Türk Tıbbında Ailevi Akdeniz Ateşi Hastalığıve Amiloidoz’. Türk Nefroloji Diyaliz ve Transplantasyon Dergisi I Official Journal of the Turkish Society of Nephrology 2003:12(1)1–7.
  • 4. Touitou I. The spectrum of Familial Mediterranean Fever (FMF) mutations. Eur J Hum Genet. 2001;9:473–83.
  • 5. Çağlar A, Özçelik G, Akıncı N. Genotype, phenotype correlation in pediatric patients with Familial Mediterrenean Fever. İzmir Dr. Behçet Uz Çocuk Hast. Dergisi. 2018;8(2):144–150.
  • 6. Yalcinkaya F, Özen S, Özçakar ZB, Aktay N, Çakar N, Düzova A, et al. A new set of criteria for the diagnosis of familial Mediterranean fever in childhood. Rheumatology. 2009;48(4):395–8.
  • 7. Dewalle M, Domingo C, Rozenbaum M, Ben-Chetrit E, Cattan D, Bernot A, et al. Phenotype-genotype correlation in Jewish patients suffering from familial Mediterranean fever (FMF). European Journal of human genetics. 1998;6(1):95.
  • 8. Majeed H, Rawashdeh M, El-Shanti H, Qubain H, Khuri-Bulos N, Shahin H. Familial Mediterranean fever in children: the expanded clinical profile. Qjm. 1987;92(6):309–18.
  • 9. Sönmezgöz E, Özer S, Gül A, Yılmaz R, Kasap T, Takcı Ş et. al. Clinical and Demographic Evaluation According to MEFV Genes in Patients with Familial Mediterranean Fever. Biochemical Genetics (2017)57:289–300.
  • 10. Soylemezoglu O, Kandur Y, Duzova A, Ozkaya O, Kasapcopur O, Baskin E, et al. Familial Mediterranean fever with a single MEFV mutation: comparison of rare and common mutations in a Turkish paediatric cohort. ClinExpRheumatol. 2015 Nov-Dec;33(6 Suppl 94):S152–5. Epub 2015 May 25.
  • 11. Erguven M, Üçel R, Cebeci AN, Pelit M. Ailevî Akdeniz ateşinin demografik, klinik ve genetic özellikleri ile tedaviye yanıtı:120 vakalık tek merkez deneyimi. Çocuk Sağlığı ve Hastalıkları Dergisi. 2006;49:283–290.
  • 12. Battal F, Silan F, Topaloğlu N, Aylanç H, Yıldırım Ş, Binnetoğlu FK, Tekin M, et al. The MEFV gene pathogenic variants and phenotype-genotype correlation in children with familial Mediterranean fever in the Çanakkale population. Balkan J Med Genet. 2017;19:23–8.
  • 13. Berdeli A, Cura A, Mir S, Serdaroglu E, Ozkayin N. MEFV gene mutations in children with familial mediterranean fever: Ege University experience. Abstracts from the 6-th BANTAO Congress, Varna, October 6–9, 2003. BANTAO Journal. 2003;1(1):13.

Do Pediatric Patients with Familial Mediterranean Fever who have Phenotypically Predominant Arthritis, Arthralgia, and Myalgia Reflect a More Serious Underlying Disease than Those with Phenotypically Predominant Abdominal Pain?

Year 2024, Volume: 14 Issue: 3, 284 - 289, 31.12.2024

Abstract

Aim: The study aimed to determine the presence of different demographic, familial, clinical, laboratory, and genotypic characteristics between children with Familial Mediterranean Fever (FMF) with recurrent arthritis, arthralgia, and myalgia phenotype and children with FMF with recurrent abdominal attacks phenotype.
Material and Method: The study included patients who were admitted to the Pediatric Rheumatology Outpatient Clinic of the Kafkas University Research Hospital before 2020, who were diagnosed with FMF and followed up for at least 1 year, and who were diagnosed with clinically recurrent arthritis, arthralgia, myalgia, and recurrent abdominal pain. Patients were divided into two groups: 151 patients with recurrent arthritis, arthralgia, and myalgia with FMF phenotypic features (Group 1) and 102 patients with recurrent diffuse, incomplete peritoneal involvement with predominant FMF phenotypic features (Group 2). The demographic and familial characteristics, age at diagnosis, and other clinical, laboratory, and genetic features of these 2 groups were compared, and the differences were statistically evaluated.
Results: While 60.6% of the patients in Group 1 and 39.4% in Group 2 were female, 58.7% of the patients in Group 1 and 41.3% in Group 2 were male. No significant statistical difference was found between the two groups. When the groups were compared regarding genetic mutations, M694V homozygotes were observed in 17.2% of Group 1 and 8.8% of Group 2. There was a statistically significant difference between Group 1 and Group 2 in M694V homozygotes (p<0.05)
Conclusion: Patients with FMF with predominant recurrent arthritis, arthralgia, and myalgia tended to be diagnosed at an older age and exhibited more frequent symptoms such as pallor and nausea compared to patients with FMF who predominantly had peritoneal involvement. Furthermore, pleural involvement was frequently observed, and the co-occurrence with the homozygous M694V mutation was genotypically high.

References

  • 1. Tunca, M., Ozdogan, H., Kasapcopur, O., Yalcinkaya, F., Tutar, E., Topaloglu, R, et al. Familial Mediterrane an fever FMF) in Turkey: results of a nationwide multicenterstudy. Medicine (Baltimore) 2005;84(1):1–11.
  • 2. Consortium FF. A candidate gene for familial Mediterranean fever. Nature genetics. 1997;17(1):25.
  • 3. Örün E, Yalçınkaya F. ‘Türk Tıbbında Ailevi Akdeniz Ateşi Hastalığıve Amiloidoz’. Türk Nefroloji Diyaliz ve Transplantasyon Dergisi I Official Journal of the Turkish Society of Nephrology 2003:12(1)1–7.
  • 4. Touitou I. The spectrum of Familial Mediterranean Fever (FMF) mutations. Eur J Hum Genet. 2001;9:473–83.
  • 5. Çağlar A, Özçelik G, Akıncı N. Genotype, phenotype correlation in pediatric patients with Familial Mediterrenean Fever. İzmir Dr. Behçet Uz Çocuk Hast. Dergisi. 2018;8(2):144–150.
  • 6. Yalcinkaya F, Özen S, Özçakar ZB, Aktay N, Çakar N, Düzova A, et al. A new set of criteria for the diagnosis of familial Mediterranean fever in childhood. Rheumatology. 2009;48(4):395–8.
  • 7. Dewalle M, Domingo C, Rozenbaum M, Ben-Chetrit E, Cattan D, Bernot A, et al. Phenotype-genotype correlation in Jewish patients suffering from familial Mediterranean fever (FMF). European Journal of human genetics. 1998;6(1):95.
  • 8. Majeed H, Rawashdeh M, El-Shanti H, Qubain H, Khuri-Bulos N, Shahin H. Familial Mediterranean fever in children: the expanded clinical profile. Qjm. 1987;92(6):309–18.
  • 9. Sönmezgöz E, Özer S, Gül A, Yılmaz R, Kasap T, Takcı Ş et. al. Clinical and Demographic Evaluation According to MEFV Genes in Patients with Familial Mediterranean Fever. Biochemical Genetics (2017)57:289–300.
  • 10. Soylemezoglu O, Kandur Y, Duzova A, Ozkaya O, Kasapcopur O, Baskin E, et al. Familial Mediterranean fever with a single MEFV mutation: comparison of rare and common mutations in a Turkish paediatric cohort. ClinExpRheumatol. 2015 Nov-Dec;33(6 Suppl 94):S152–5. Epub 2015 May 25.
  • 11. Erguven M, Üçel R, Cebeci AN, Pelit M. Ailevî Akdeniz ateşinin demografik, klinik ve genetic özellikleri ile tedaviye yanıtı:120 vakalık tek merkez deneyimi. Çocuk Sağlığı ve Hastalıkları Dergisi. 2006;49:283–290.
  • 12. Battal F, Silan F, Topaloğlu N, Aylanç H, Yıldırım Ş, Binnetoğlu FK, Tekin M, et al. The MEFV gene pathogenic variants and phenotype-genotype correlation in children with familial Mediterranean fever in the Çanakkale population. Balkan J Med Genet. 2017;19:23–8.
  • 13. Berdeli A, Cura A, Mir S, Serdaroglu E, Ozkayin N. MEFV gene mutations in children with familial mediterranean fever: Ege University experience. Abstracts from the 6-th BANTAO Congress, Varna, October 6–9, 2003. BANTAO Journal. 2003;1(1):13.
There are 13 citations in total.

Details

Primary Language English
Subjects Clinical Sciences (Other)
Journal Section Research Article
Authors

Tuğba Nur Kutlu Beşeren

Müferet Ergüven

Sefer Üstebay

Publication Date December 31, 2024
Submission Date July 11, 2024
Acceptance Date November 8, 2024
Published in Issue Year 2024 Volume: 14 Issue: 3

Cite

APA Kutlu Beşeren, T. N., Ergüven, M., & Üstebay, S. (2024). Do Pediatric Patients with Familial Mediterranean Fever who have Phenotypically Predominant Arthritis, Arthralgia, and Myalgia Reflect a More Serious Underlying Disease than Those with Phenotypically Predominant Abdominal Pain?. Kafkas Journal of Medical Sciences, 14(3), 284-289.
AMA Kutlu Beşeren TN, Ergüven M, Üstebay S. Do Pediatric Patients with Familial Mediterranean Fever who have Phenotypically Predominant Arthritis, Arthralgia, and Myalgia Reflect a More Serious Underlying Disease than Those with Phenotypically Predominant Abdominal Pain?. KAFKAS TIP BİL DERG. December 2024;14(3):284-289.
Chicago Kutlu Beşeren, Tuğba Nur, Müferet Ergüven, and Sefer Üstebay. “Do Pediatric Patients With Familial Mediterranean Fever Who Have Phenotypically Predominant Arthritis, Arthralgia, and Myalgia Reflect a More Serious Underlying Disease Than Those With Phenotypically Predominant Abdominal Pain?”. Kafkas Journal of Medical Sciences 14, no. 3 (December 2024): 284-89.
EndNote Kutlu Beşeren TN, Ergüven M, Üstebay S (December 1, 2024) Do Pediatric Patients with Familial Mediterranean Fever who have Phenotypically Predominant Arthritis, Arthralgia, and Myalgia Reflect a More Serious Underlying Disease than Those with Phenotypically Predominant Abdominal Pain?. Kafkas Journal of Medical Sciences 14 3 284–289.
IEEE T. N. Kutlu Beşeren, M. Ergüven, and S. Üstebay, “Do Pediatric Patients with Familial Mediterranean Fever who have Phenotypically Predominant Arthritis, Arthralgia, and Myalgia Reflect a More Serious Underlying Disease than Those with Phenotypically Predominant Abdominal Pain?”, KAFKAS TIP BİL DERG, vol. 14, no. 3, pp. 284–289, 2024.
ISNAD Kutlu Beşeren, Tuğba Nur et al. “Do Pediatric Patients With Familial Mediterranean Fever Who Have Phenotypically Predominant Arthritis, Arthralgia, and Myalgia Reflect a More Serious Underlying Disease Than Those With Phenotypically Predominant Abdominal Pain?”. Kafkas Journal of Medical Sciences 14/3 (December 2024), 284-289.
JAMA Kutlu Beşeren TN, Ergüven M, Üstebay S. Do Pediatric Patients with Familial Mediterranean Fever who have Phenotypically Predominant Arthritis, Arthralgia, and Myalgia Reflect a More Serious Underlying Disease than Those with Phenotypically Predominant Abdominal Pain?. KAFKAS TIP BİL DERG. 2024;14:284–289.
MLA Kutlu Beşeren, Tuğba Nur et al. “Do Pediatric Patients With Familial Mediterranean Fever Who Have Phenotypically Predominant Arthritis, Arthralgia, and Myalgia Reflect a More Serious Underlying Disease Than Those With Phenotypically Predominant Abdominal Pain?”. Kafkas Journal of Medical Sciences, vol. 14, no. 3, 2024, pp. 284-9.
Vancouver Kutlu Beşeren TN, Ergüven M, Üstebay S. Do Pediatric Patients with Familial Mediterranean Fever who have Phenotypically Predominant Arthritis, Arthralgia, and Myalgia Reflect a More Serious Underlying Disease than Those with Phenotypically Predominant Abdominal Pain?. KAFKAS TIP BİL DERG. 2024;14(3):284-9.