Scopus
YÖKSİS DOI Eşleşti
SJR Q2
Clinical and Demographic Evaluation According to MEFV Genes in Patients with Familial Mediterranean Fever
Biochemical Genetics · Nisan 2019
YÖKSİS Kayıtları
Clinical and Demographic Evaluation According to MEFV Genes in Patients with Familial Mediterranean Fever
BIOCHEMICAL GENETICS · 2019 SCI-Expanded
Prof. Dr. RESUL YILMAZ →
YÖKSİS Kayıtları — ISSN Eşleşmesi
Isolation and sequence analysis of wheat NBS LRR type disease resistance gene analogs using degenerate PCR primers
2007 ISSN: 0006-2928 SCI-Expanded
Prof. Dr. ERDOĞAN EŞREF HAKKI →
Is the IL 6 174G C Gene Polymorphism Related to the Disease Severity Score in Turkish Children with Familial Mediterranean Fever
2016 ISSN: 0006-2928 SCI-Expanded
Prof. Dr. RESUL YILMAZ →
Leptin, NPY, Melatonin and Zinc Levels in Experimental Hypothyroidism and Hyperthyroidism: The Relation to Zinc
2017 ISSN: 0006-2928 SCI-Expanded
Prof. Dr. ABDULKERİM KASIM BALTACI →
Effect of Zinc and Melatonin on Oxidative Stress and Serum Inhibin-B Levels in a Rat Testicular Torsion-Detorsion Model.
2017 ISSN: 0006-2928 SCI-Expanded
Prof. Dr. ABDULKERİM KASIM BALTACI →
Clinical and Demographic Evaluation According to MEFV Genes in Patients with Familial Mediterranean Fever
2019 ISSN: 0006-2928 SCI-Expanded
Prof. Dr. RESUL YILMAZ →
Assessment of Pathogenic Variants in the PAH Gene and Genotype–Phenotype Correlation in Phenylketonuria Patients from Turkey
2025 ISSN: 0006-2928 SCI-Expanded Q4
Dr. Öğr. Üyesi BANU KADIOĞLU YILMAZ →
Makale Bilgileri
Dergi
Biochemical Genetics
ISSN00062928
Yayın TarihiNisan 2019
Cilt / Sayfa57 · 289-300
Scopus ID2-s2.0-85054506793
Özet
The present study examined the relationship between clinical findings and mutation analyses in children with Familial Mediterranean Fever (FMF) in the inner Black Sea region of Turkey. This retrospective, cross-sectional study included patients with FMF who were evaluated between 2007 and 2015. FMF was diagnosed according to the Tel Hashomer criteria. FMF mutations were analyzed using a Real-time PCR System (Roche Diagnostics, Mannheim, Germany), and patients were classified into three groups according to allele status. The most common symptom was abdominal pain (99%, n = 197). The most frequent mutations were M694V and R202Q. Chest pain was reported more often in patients homozygous for M694V (61.4%). Although fever, abdominal pain, and arthritis were more commonly observed with the M694V mutation, chest pain was the most common symptom in R202Q carriers (n = 10, 32.3%). Proteinuria was observed in 42 (21.2%) patients, frequently accompanied by the M694V mutation (28.6%). The most common mutations in children with FMF in Turkey were M694V and R202Q. Recurrent abdominal pain and arthritis/arthralgia were commonly observed in patients with M694V and R202Q mutations. Moreover, chest pain was commonly seen with the R202Q mutation. Thus, R202Q might be a disease-causing mutation in FMF patients.
Yazarlar (8)
1
Ergün Sönmezgöz
2
Samet Özer
ORCID: 0000-0003-0880-7215
3
Ali Gul
4
Resul Yilmaz
5
Tuba Kasap
6
Şahin Takcı
7
Ruveyda Gumuser
8
Osman Demir
ORCID: 0000-0002-1322-2716
Anahtar Kelimeler
Clinical features
Familial Mediterranean Fever
MEFV gene
R202Q
Kurumlar
Tokat Gaziosmanpaşa Üniversitesi
Tokat Turkey
Scimago Dergi (ISSN Eşleşmesi)
Biochemical Genetics
Q2
SJR Skoru0,544
H-Index50
YayıncıSpringer
ÜlkeUnited States
Ecology, Evolution, Behavior and Systematics (Q2)
Medicine (miscellaneous) (Q2)
Biochemistry (Q3)
Genetics (Q3)
Molecular Biology (Q3)
Metrikler
25
Atıf
8
Yazar
4
Anahtar Kelime