ArticleClinical rheumatology2022
Genotype-phenotype associations in familial Mediterranean fever: a study of 500 Egyptian pediatric patients.
Article in Clinical rheumatology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 22 citations in OpenAlex.
- Familial Mediterranean fever in Azerbaijani children: a nationwide cohort study of genotype-phenotype association.Rheumatology (Oxford, England) · 2026Article
- Clinical and genetic characteristics of adult patients with familial Mediterranean fever at a German tertiary referral centre.BMC rheumatology · 2026Article
- Pharmacologic management of renal involvement in monogenic autoinflammatory diseases.European journal of medical research · 2026Review
- Diagnostic yield of real-time PCR vs. NGS in pediatric FMF: insights from a Turkish cohort.Open medicine (Warsaw, Poland) · 2026Article
- Characteristics of Siblings with Familial Mediterranean Fever: A Single-Center Experience.Turkish archives of pediatrics · 2025Article
- A Unique Complex Variation Profile in a Patient with Familial Mediterranean Fever (FMF): Triple Homozygous E148Q-P369S-R408Q - "Case Report".The application of clinical genetics · 2025Article
- Familial Mediterranean Fever in Childhood.Turkish archives of pediatrics · 2024Review
- Relationship between sacroiliitis and inflammatory markers in familial Mediterranean fever.Revista da Associacao Medica Brasileira (1992) · 2024Article
- Heterozygous MEFV Mutation Leading to Renal Failure: A Case Study.Global pediatric health · 2024Article
- Autoinflammatory diseases and the kidney.Immunologic research · 2023Review
- Genetic and Epigenetic Regulation of MEFV Gene and Their Impact on Clinical Outcome in Auto-Inflammatory Familial Mediterranean Fever Patients.Current issues in molecular biology · 2023Article
- Systematic genetic analysis of pediatric patients with autoinflammatory diseases.Frontiers in genetics · 2023Article
- Recurrent Fever with Oral Lesions in Egyptian Children: A Familial Mediterranean Fever Diagnosis Not to Be Missed.Children (Basel, Switzerland) · 2022Article
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Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionFamilial Mediterranean fever (FMF) is the most prevalent monogenic autoinflammatory disease, caused by recessively inherited MEFV gene mutations. The most frequent MEFV mutations differ in penetrance and disease severity. We investigated the genotype-phenotype associations of the three most frequent MEFV gene mutations (M680I, M694V, and V726A) in Egyptian FMF children, regarding clinical features, severity, and colchicine response.
methodsWe conducted a retrospective analysis of the medical registries of 500 FMF pediatric patients from Metropolitan Cairo between 2010 and 2015. The diagnosis was based on the Tel-Hashomer clinical diagnostic criteria. Clinical data and baseline investigations were collected. Mutation analysis was performed by the amplification-refractory mutation system (ARMS)-PCR method.
resultsMales represented 54% and ages ranged from 2 to 18 years. The most frequent symptoms were abdominal pain, fever, and arthralgia. Clinical features mostly associated with M694V mutation either homozygous or heterozygous whether simple, double, or triple. Of the patients, 94.6% completely responded to colchicine. Among patients benefiting from colchicine, 42.5% had M694V/V726A, 21.6% had M694V/V726A/M680I, and 21.1% had M694V genotype. Simple heterozygous M694V or V726A mutations conveyed a moderate phenotype in 57.1% and 50% of cases, respectively. Homozygous M694V mutation showed moderate and severe phenotypes in 21.7% and 65.2% of cases, respectively. Compound M694V/V726A mutation associated with moderate or severe disease in 48.3% and 33.8% of cases, respectively.
conclusionThis study encompasses the largest group of Egyptian pediatric FMF up to date to explore their genotype-phenotype associations. Our results support the notion that the genotype influences the phenotype as regards clinical manifestations, disease severity, and colchicine response. KEY POINTS: • This study encompasses the largest group of Egyptian pediatric patients affected by FMF up to date to explore their genotype-phenotype associations. • Our results support the notion that the genotype influences the phenotype as regards the clinical manifestations, the disease severity, and the response to colchicine treatment.
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