Relationship between genetic and clinical findings in pediatric patients with Familial Mediterranean Fever

Handan Kekeç; Abdullah Arpacı; Çiğdem El

Makale detayları

Relationship between genetic and clinical findings in pediatric patients with Familial Mediterranean Fever

Yazarlar:

Handan Kekeç | Abdullah Arpacı | Çiğdem El

Yayıncı:

Cukurova University

Ana Başlıklar:

Çocuk Genetik Hastalıkları | Çocuk Romatolojisi

Dergi:

Cukurova Medical Journal Vol.50 Issue 2, pp.530-539

Belge Tipi:

Makale

Yayın Tarihi:

6/2025

Belge Dili:

İngilizce

Document ID (Org No.):

2001351470

pISSN:

2602-3032

Anahtar kelimeler:

Özet:

 Purpose: Familial Mediterranean Fever FMF OMIM 249100 exhibits varying clinical severity, influenced by genetic mutations. This study aimed to assess the relationship between FMF genotypes and disease severity in pediatric patients. Materials and Methods: This retrospective cross-sectional study included FMF patients aged 0-18 years who were followed up between January 1, 2016, and June 1, 2017. Demographic data, clinical findings, Pras disease severity scores Pras score, and MEFV gene mutations were analyzed. Patients were classified into four genetic groups: homozygous, heterozygous, compound heterozygous, and those without detected mutations. Clinical characteristics and disease severity were compared. Results: Among 126 FMF patients 49.2 female, the median age at symptom onset was 60 12168 months, and the median age at diagnosis was 76 23180 months, resulting in a median diagnostic delay of 12 0120 months. Common symptoms included abdominal pain 98, fever 87.3, arthralgia 60.3, and myalgia 60.3. The median Pras score was 6 range: 411, with 40.5 classified as mild, 43.7 as moderate, and 15.8 as severe. Genetic analysis revealed that 50 of the individuals had compound heterozygous mutations, 30.2 had homozygous mutations, 13.5 had heterozygous mutations, and 6.3 had no mutations. No significant differences were found among mutation groups regarding clinical characteristics or disease severity. Conclusion: Pediatric FMF exhibits clinical heterogeneity, and genotype alone may not be an effective predictor of severity. A comprehensive clinical approach remains essential for diagnosis and management.

 Purpose: Familial Mediterranean Fever FMF OMIM 249100 exhibits varying clinical severity, influenced by genetic mutations. This study aimed to assess the relationship between FMF genotypes and disease severity in pediatric patients. Materials and Methods: This retrospective cross-sectional study included FMF patients aged 0-18 years who were followed up between January 1, 2016, and June 1, 2017. Demographic data, clinical findings, Pras disease severity scores Pras score, and MEFV gene mutations were analyzed. Patients were classified into four genetic groups: homozygous, heterozygous, compound heterozygous, and those without detected mutations. Clinical characteristics and disease severity were compared. Results: Among 126 FMF patients 49.2 female, the median age at symptom onset was 60 12168 months, and the median age at diagnosis was 76 23180 months, resulting in a median diagnostic delay of 12 0120 months. Common symptoms included abdominal pain 98, fever 87.3, arthralgia 60.3, and myalgia 60.3. The median Pras score was 6 range: 411, with 40.5 classified as mild, 43.7 as moderate, and 15.8 as severe. Genetic analysis revealed that 50 of the individuals had compound heterozygous mutations, 30.2 had homozygous mutations, 13.5 had heterozygous mutations, and 6.3 had no mutations. No significant differences were found among mutation groups regarding clinical characteristics or disease severity. Conclusion: Pediatric FMF exhibits clinical heterogeneity, and genotype alone may not be an effective predictor of severity. A comprehensive clinical approach remains essential for diagnosis and management.

 Purpose: Familial Mediterranean Fever FMF OMIM 249100 exhibits varying clinical severity, influenced by genetic mutations. This study aimed to assess the relationship between FMF genotypes and disease severity in pediatric patients. Materials and Methods: This retrospective cross-sectional study included FMF patients aged 0-18 years who were followed up between January 1, 2016, and June 1, 2017. Demographic data, clinical findings, Pras disease severity scores Pras score, and MEFV gene mutations were analyzed. Patients were classified into four genetic groups: homozygous, heterozygous, compound heterozygous, and those without detected mutations. Clinical characteristics and disease severity were compared. Results: Among 126 FMF patients 49.2 female, the median age at symptom onset was 60 12168 months, and the median age at diagnosis was 76 23180 months, resulting in a median diagnostic delay of 12 0120 months. Common symptoms included abdominal pain 98, fever 87.3, arthralgia 60.3, and myalgia 60.3. The median Pras score was 6 range: 411, with 40.5 classified as mild, 43.7 as moderate, and 15.8 as severe. Genetic analysis revealed that 50 of the individuals had compound heterozygous mutations, 30.2 had homozygous mutations, 13.5 had heterozygous mutations, and 6.3 had no mutations. No significant differences were found among mutation groups regarding clinical characteristics or disease severity. Conclusion: Pediatric FMF exhibits clinical heterogeneity, and genotype alone may not be an effective predictor of severity. A comprehensive clinical approach remains essential for diagnosis and management.

 Amaç: Ailevi Akdeniz Ateşi AAA OMIM 249100, genetik mutasyonlardan etkilenebilen ve farklı klinik şiddetle seyreden bir hastalıktır. Bu çalışmada pediatrik AAA hastalarında genotip ile klinik ve hastalık şiddeti arasındaki ilişkiyi değerlendirmektir. Gereç ve Yöntem: Bu çalışma, 1 Ocak 2016-1 Haziran 2017 tarihleri arasında AAA tanısı ile izlenen 0-18 yaş arası hastaları kapsamaktadır. Retrospektif kesitsel olarak planlanmıştır. Demografik veriler, klinik bulgular, Pras hastalık şiddet puanları ve MEFV gen mutasyonları incelenmiştir. Hastalar genetik analiz sonuçlarına göre dört gruba ayrılmıştır: homozigot, heterozigot, bileşik heterozigot mutasyon saptananlar ve mutasyon tespit edilemeyenler. Klinik özellikler ve hastalık şiddeti gruplar arasında karşılaştırılmıştır. Bulgular: Toplam 126 AAA hastası çalışmaya dahil edilmiş olup,  49,2si kızdı. Medyan semptom başlangıç yaşı 60 12-168 ay, medyan tanı yaşı 76 23-180 ay ve tanıda gecikme süresi 12 0-120 ay olarak bulunmuştur. En sık saptanan semptomlar arasında karın ağrısı  98, ateş  87,3, artralji  60,3 ve miyalji  60,3 yer almaktadır. Hastaların medyan Pras şiddet skoru 6 4-11 olup,  40,5i hafif,  43,7si orta,  15,8i ise şiddetli olarak sınıflandırılmıştır. Genetik analizde hastaların 50sinde bileşik heterozigot,  30,2sinde homozigot, 13,5inde heterozigot mutasyon saptanmıştır ve  6,3ünde ise mutasyon tespit edilmemiştir. Mutasyon grupları arasında klinik özellikler veya hastalık şiddeti açısından anlamlı bir fark bulunmamıştır. Sonuç: Pediatrik AAA, klinik olarak heterojen bir seyir göstermektedir ve genotip hastalık şiddetini tek başına öngöremez. Tanı ve tedavi için kapsamlı bir klinik yaklaşımın önemi vurgulanmaktadır.

Makale detayları

Relationship between genetic and clinical findings in pediatric patients with Familial Mediterranean Fever

Yazarlar:

Handan Kekeç | Abdullah Arpacı | Çiğdem El

Yayıncı:

Cukurova University

Ana Başlıklar:

Çocuk Genetik Hastalıkları | Çocuk Romatolojisi

Dergi:

Cukurova Medical Journal Vol.50 Issue 2, pp.530-539

Belge Tipi:

Makale

Yayın Tarihi:

6/2025

Belge Dili:

İngilizce

Document ID (Org No.):

2001351470

pISSN:

2602-3032

Familial Mediterranean Fever

Genotype–Phenotype Correlation

Pediatric

MEFV MutationAilevi Akdeniz Ateşi

MEFV mutasyonu

Genotip-Fenotip

Pediatrik

Sayı

Makale detayları

Yazarlar: Handan Kekeç | Abdullah Arpacı | Çiğdem El

Yayıncı: Cukurova University

Ana Başlıklar: Çocuk Genetik Hastalıkları | Çocuk Romatolojisi

Dergi: Cukurova Medical Journal Vol.50 Issue 2, pp.530-539

Belge Tipi: Makale

Yayın Tarihi: 6/2025

Belge Dili: İngilizce

Document ID (Org No.): 2001351470

pISSN: 2602-3032

Sayı

Yazarlar:

Handan Kekeç | Abdullah Arpacı | Çiğdem El

Yayıncı:

Cukurova University

Ana Başlıklar:

Çocuk Genetik Hastalıkları | Çocuk Romatolojisi

Dergi:

Cukurova Medical Journal Vol.50 Issue 2, pp.530-539

Belge Tipi:

Makale

Yayın Tarihi:

6/2025

Belge Dili:

İngilizce

Document ID (Org No.):

2001351470

pISSN:

2602-3032