Relationship between genetic mutation variations and acute-phase reactants in the attack-free period of children diagnosed with familial Mediterranean fever

Koşan, Celalettin; Çayır, Atilla; Turan, Mehmet İbrahim

doi:10.1590/1414-431x20133178

Cited by 9 publications

(7 citation statements)

References 13 publications

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“…However, although these findings were confirmed in further studies, other authors were not in agreement with these results . Particularly, unexpectedly though, despite the fact that it has been observed only in the patients with amyloidosis, studies did not link the M694V/M694V genotype to the renal complication .…”

Section: Resultsmentioning

confidence: 66%

“…63,64 However, although these findings were confirmed in further studies, [22][23][24] other authors were not in agreement with these results. 65 Particularly, unexpectedly though, despite the fact that it has been observed only in the patients with amyloidosis, studies did not link the M694V/M694V genotype to the renal complication. [66][67][68] Moreover, other authors noted that, in southeast Turkey population, the M694V mutation frequency was lower, and disease severity was relatively mild in FMF patients.…”

Section: Clinical Phenotype and Gene Variants In Exon 10mentioning

confidence: 97%

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Lack of clear and univocal genotype‐phenotype correlation in familial Mediterranean fever patients: A systematic review

et al. 2018

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Familial Mediterranean fever (FMF) is the most common autosomal recessive autoinflammatory disease. To date, following the isolation of more than 280 MEFV sequence variants, the genotype-phenotype correlation in FMF patients has been intensively investigated; however, an univocal and clear consensus has not been yet reached. Thus, the aim of this systematic review was to analyze the available literature findings in order to provide to scientific community an indirect estimation of the impact of genetic factors on the phenotypic variability of FMF. This systematic review has been conducted according to the Preferred Reporting Items for Systematic reviews and Meta-Analysis (PRISMA) guidelines. The p.M694V mutation was reported to have a relatively severe clinical course, similarly, patients homozygous for M694I and M680I, or carrying a combination of both at codons 694 and 680, have a severe disease. Also, patients homozygous for M694V and V726A variants experienced more severe clinical picture. Conversely, heterozygous p.V726A and p.E148Q genotypes have been correlated with a milder disease course. At present, doubts remain on the potential pathogenic role of E148Q variant. The heterogenity in clinical FMF manifestations reflects the changes occuring in repertoire of mutations. We believe that clinical criteria and gene tests, enhancing each other, could better support the diagnosis of FMF.

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Section: Resultsmentioning

confidence: 66%

Section: Clinical Phenotype and Gene Variants In Exon 10mentioning

confidence: 97%

Lack of clear and univocal genotype‐phenotype correlation in familial Mediterranean fever patients: A systematic review

et al. 2018

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“…Headache or diffuse myalgia and malaise can also occur. The acute phase reactants like serum amyloid A (SAA) are significantly elevated [ 4 , 5 ]. Recurrent orchitis and meningitis are uncommon presentations.…”

Section: Introductionmentioning

confidence: 99%

Relationship between clinical findings and genetic mutations in patients with familial Mediterranean fever

et al. 2015

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BackgroundFamilial Mediterranean fever (FMF) is one of the most frequent genetic diseases encountered in the Mediterranean region. We aimed to investigate the correlation between genetic mutations and the clinical findings in 562 patients with FMF.MethodsIn this retrospective cross-sectional study conducted with patients’ files between 2006, and 2013, reverse hybridization assay for MEFV gene mutations was used and the 12 most frequent mutations were screened. Mutation types and clinical findings were compared with variance analysis.ResultsThe mean age was 6.9 ± 3.4 years (range, 1.8-11.6 years). The most common symptom was fever (97.3 %). Thirty-four of the patients (6.04 %) were admitted with periodic fever only. Of these patients, M694V was the most common mutation type (73.5 %). The percentage of the patients predominantly presenting with recurrent abdominal pain was 77.78 % and the most frequent mutations were M694V and E148Q. The rate of arthritis and arthralgia was significantly higher in patients with M694V and E148Q mutations. Chest pain was reported more often in patients homozygous for M694V (61.4 %). Pericardial effusion was documented in the echocardiography of 10.9 % of the 229 children with chest pain. Some patients had both FMF and Henoch Schönlein purpura (HSP), and were more likely to harbor either homozygote M694V or E148Q mutations. The frequency of episodes was higher in patients with homozygous M694V mutations (number of attacks = 4.4 ± 1.6/month). Proteinuria was detected in 106 patients of cases (29.2 %), at an average of 854 ± 145 mg/L. Most of the patients with proteinuria and elevated serum amyloid-A had homozygous M694V mutation.ConclusionThe most common mutation in children in Turkey with FMF is the M694V mutation. Recurrent abdominal pain, arthritis or arthralgia, chest pain, and pericarditis were commonly seen in patients with M694V and E148Q mutations.

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“…Moreover, basal and peak concentrations of SAA and hs-CRP were highly increased in MEFV heterozygotes than in wild-type controls, regardless of mutation [7]. Kosan and colleagues have investigated the relationship between acute-phase reactants (ESR, CRP, brinogen, and white blood cell count) and gene mutations in attack-free periods of FMF children aged 2-18 years [11]. FMF patients' samples were collected every 6 months for two years.…”

Section: Discussionmentioning

confidence: 99%

Association Between Acute Phase Reactants (High Sensitivity C-Reactive Protein and Erythrocyte Sedimentation Rate) and the Genotype of Familial Mediterranean Fever (FMF) in Patients and Healthy Controls

Jarjour

Zarzour

2021

Preprint

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Background: Familial Mediterranean fever (FMF) is an autosomal recessive disorder mainly common in Arabs, Non-Ashkenazi Jews, Armenians and Turks. The classical clinical features include painful attacks and recurrent acute fever with periods of remission. Results: This study was carried out on 101 clinically diagnosed Syrian FMF patients, in addition to 107 apparently healthy controls. Twelve mutations in the gene locus of MEFV were detected using reverse hybridization and the M694V mutation was found to be the most common in Syrian patients. This study showed that there was a statistically significant difference between the two groups when comparing the levels of the high-sensitivity C-reactive protein (hs-CRP) and the erythrocyte sedimentation rate (ESR) for the two groups of patients and healthy controls. However, this study did not show a relationship between genotype of MEFV mutations and hs-CRP titers and ESR in these patients, as well as the absence of a strong relationship between the M694V mutation and hs-CRP titers and ESR. Conclusion: These data indicate the importance of hs-CRP titers and ESR in patients with familial Mediterranean fever when diagnosing the disease, before starting treatment and in attack-free periods, which may give us an idea about the severity of the disease.

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Relationship between genetic mutation variations and acute-phase reactants in the attack-free period of children diagnosed with familial Mediterranean fever

Cited by 9 publications

References 13 publications

Lack of clear and univocal genotype‐phenotype correlation in familial Mediterranean fever patients: A systematic review

Lack of clear and univocal genotype‐phenotype correlation in familial Mediterranean fever patients: A systematic review

Relationship between clinical findings and genetic mutations in patients with familial Mediterranean fever

Association Between Acute Phase Reactants (High Sensitivity C-Reactive Protein and Erythrocyte Sedimentation Rate) and the Genotype of Familial Mediterranean Fever (FMF) in Patients and Healthy Controls

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