ArticleClinical rheumatology2012
Association of clinical and genetical features in FMF with focus on MEFV strip assay sensitivity in 452 children from western Anatolia, Turkey.
Article in Clinical rheumatology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 67 citations in OpenAlex.
- Transient elastography measurements of the liver and transplanted kidney in patients with AA amyloidosis: a cross-sectional comparative study.Rheumatology international · 2025Article
- Acute Parotitis due to Familial Mediterranean Fever: A Case Report.Clinical pediatrics · 2025Article
- Increasing Importance of Genotype-Phenotype Correlations Associated with Common and Rare MEFV Gene Mutations in FMF Patients in the Last Thirty Years.Journal of clinical medicine · 2025Article
- A Comprehensive Bibliometric Analysis of Orchitis Research from 1980 to 2023.Advances in experimental medicine and biology · 2025Review
- Characterizing Protracted Febrile Myalgia: Fasciitis and Vasculitis of the Fascia and Muscle as Novel Histopathological Features.Journal of clinical medicine · 2024Article
- Comparison of Clinical and Genetic Characteristics of Familial Mediterranean Fever Patients Among Adult Age Groups.The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology · 2024Article
- Characteristics and course of patients with AA amyloidosis: single centre experience with 174 patients from Turkey.Rheumatology (Oxford, England) · 2024Article
- Effectiveness of Colchicine or Canakinumab in Japanese Patients with Familial Mediterranean Fever: A Single-Center Study.Journal of clinical medicine · 2023Article
- Renal involvement, presence of amyloidosis, and genotype-phenotype relationship in pediatric patients with Familial Mediterranean fever: a single center study.European journal of pediatrics · 2023Article
- Neurological Face of Familial Mediterranean Fever.Turkish archives of pediatrics · 2022Article
- Prediction of More Severe MEFV Gene Mutations in Childhood.Turkish archives of pediatrics · 2021Article
- Comorbidities and phenotype-genotype correlation in children with familial Mediterranean fever.Rheumatology international · 2021Observational
- Real-Life Data From the Largest Pediatric Familial Mediterranean Fever Cohort.Frontiers in pediatrics · 2021Article
- Blood-based test for diagnosis and functional subtyping of familial Mediterranean fever.Annals of the rheumatic diseases · 2020Article
- The grandfather's fever.Clinical rheumatology · 2020Review
- Familial Mediterranean fever in childhood: a single-center experience.Rheumatology international · 2018Article
- Does thiol-disulphide balance show oxidative stress in different MEFV mutations?Rheumatology international · 2018Article
- Frequency of familial Mediterranean fever (MEFV) gene mutations in patients with biopsy-proven primary glomerulonephritis.Clinical rheumatology · 2017Article
- Role of genetics in pediatric rheumatology.Turk pediatri arsivi · 2017Review
- Familial Mediterranean fever, review of the literature.Clinical rheumatology · 2017Review
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The aim of this study was to determine the relationship between clinical findings and the most common mutated alleles of MEFV gene in a childhood population and to determine the sensitivity of the 12-mutation-strip assay test in familial Mediterranean fever (FMF). Records of 452 FMF children living in western Anatolia, Turkey, (12.3 ± 4.7 years mean) were retrospectively reviewed. Of the 408 patients who met the Tel-Hashomer criteria, 364 were classified into two main groups (two-mutant/one-mutant allele) either of which had three subgroups. The two-mutant allele frequency was 51% and one-mutant allele 38%; 1% had complex-mutant alleles and 10% no mutant-alleles. The mean severity score was 8.3 ± 2.5. Most common clinical features were fever (81.9%), abdominal pain (86.3%) and myalgia (58.8%), and the least common ones: diarrhea (1.7%), protracted febrile myalgia (1.2%) and acute orchitis (1.5%). We detected 33 different genotypes of the MEFV gene: the most common mutant allele was M694V followed by symptomatic allele mutation of E148Q. Although not significantly associated with clinical findings, P369S mutation was not rare (7.5%). Phenotype-genotype correlation revealed that patients with two-allele mutations had more severe clinical presentation and high constipation rate (22.5%); 32.6% of patients with M694V/M694V had splenomegaly. Acute orchitis and protracted febrile myalgia as rare clinical findings were more common in M694V homozygotes. Comparisons of clinical findings among patients with one-mutation allele were made for the first time, but no significant association was found. Positive predictive value of strip assay screening for 12 mutations was recorded as 89%. We suggest that whole sequence analysis for supportive diagnosis of FMF should be performed for selected patients only.
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