ArticlePediatric rheumatology online journal2015
Relationship between clinical findings and genetic mutations in patients with familial Mediterranean fever.
Article in Pediatric rheumatology online journal, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Immunomodulating Therapies in Acute Myocarditis and Recurrent/Acute Pericarditis.Frontiers in medicine · 2022Pooled it
- Late-onset-case of Familial Mediterranean fever (FMF)-exotic but rising differential diagnosis of "unclear abdominal illness" in Germany due to increasing migration over the past decade.Wiener medizinische Wochenschrift (1946) · 2026Article
- The Impact of Different MEFV Genotypes on Clinical Phenotype of Patients with Familial Mediterranean Fever: Special Emphasis on Joint Involvement.European journal of pediatrics · 2024Article
- Very-early-onset Inflammatory Bowel Disease in an Infant with a Partial RIPK1 Deletion.Journal of clinical immunology · 2024Article
- Acute Myopericarditis as the First Manifestation of Familial Mediterranean Fever: A Case Report.Cureus · 2024Article
- Cardiovascular manifestations of monogenic periodic fever syndromes.Clinical rheumatology · 2023Review
- Neurological Face of Familial Mediterranean Fever.Turkish archives of pediatrics · 2022Article
- Article
- The expanded spectrum of arthritis in children with familial Mediterranean fever.Clinical rheumatology · 2022Article
- Genotype-phenotype associations in familial Mediterranean fever: a study of 500 Egyptian pediatric patients.Clinical rheumatology · 2022Article
- A recurrent side-changing febrile pleural effusion revealing familial Mediterranean fever: a case report.The Pan African medical journal · 2022Article
- Phenotypic characterization of Familial Mediterranean Fever patients harboring variants of uncertain significanceTurkish journal of medical sciences · 2021Article
- Autoimmune and Autoinflammatory Pericarditis: Definitions and New Treatments.Current cardiology reports · 2021Review
- Cardiovascular Sequelae and Genetics of Familial Mediterranean Fever: A Literature Review.Pulse (Basel, Switzerland) · 2021Review
- [Pericarditis is inflammation of the pericardium, which rheumatologists should know].Zeitschrift fur Rheumatologie · 2021Review
- Clinical features and disease severity of Turkish FMF children carrying E148Q mutation.Journal of clinical laboratory analysis · 2019Article
- Familial Mediterranean Fever in Chinese Children: A Case Series.Frontiers in pediatrics · 2019Article
- Familial Mediterranean fever in Jordanian Children: single centre experience.Mediterranean journal of rheumatology · 2018Article
- Intima media thickness as an early predictor of atherosclerosis in Egyptian children with familial Mediterranean fever.Archives of medical sciences. Atherosclerotic diseases · 2018Article
- Familial Mediterranean fever in childhood: a single-center experience.Rheumatology international · 2018Article
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16 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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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