Serum Amyloid A Type 1 Gene Polymorphism in Egyptian Children with Familial Mediterranean Fever

Wilson, Manal; Abou-Elalla, Amany A.; Zakaria, Muhammad Razlan; Marzouk, Huda; Fayed, Hala Lotfy; Hanna, Mark P.

doi:10.1159/000444933

Cited by 10 publications

(8 citation statements)

References 34 publications

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“…M694I mutation has been associated with severe and uncommon clinical picture, including renal involvment and erysipelas‐like erythema, respectively . Particularly, the M694I/M694I genotype, identified in 52% patients, was significantly associated with the development of amyloidosis in Algerians and Arabs .…”

Section: Resultsmentioning

confidence: 99%

“…[71][72][73][74] M694I mutation has been associated with severe and uncommon clinical picture, including renal involvment and erysipelas-like erythema, respectively. 75 Particularly, the M694I/M694I genotype, identified in 52% patients, was significantly associated with the development of amyloidosis in Algerians and Arabs. 68 Authors also described a relationship between the M694I mutation and a higher prevalence of serositis and familial aggregation in Japanese patients with FMF.…”

Section: Clinical Phenotype and Gene Variants In Exon 10mentioning

confidence: 92%

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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: 99%

Section: Clinical Phenotype and Gene Variants In Exon 10mentioning

confidence: 92%

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

et al. 2018

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“…Disease severity scores are now used in many diseases to evaluate disease severity more objectively. In previous studies, it was found that the disease severity scores showed more severe disease in the group carrying the homozygous M694V mutation (13)(14)(15). However, in a study from Turkey, it was observed that carrying the M694V mutation in one allele or two alleles did not change the severity of the disease (16).…”

Section: Discussionmentioning

confidence: 92%

Ailevi Akdeniz Ateşi Hastalarında Gen Mutasyonlarının Hastalık Ciddiyet Skorları Üzerine Etkisi

Güngörer¹,

Yorulmaz²,

Arslan³

2022

Genel Tıp Dergisi

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Objectives: Familial Mediterranean Fever (FMF) is a self-limiting autoinflammatory disease. In order to better understand the prognosis of diseases, disease severity scores are used. The aim of this study is to determine the effect of genetic mutations on disease severity scores in children with FMF. Methods: Patients aged 0-18 years who were diagnosed with FMF according to Yalçınkaya-Özen diagnostic criteria and whose gene analysis was performed were evaluated retrospectively. Pras et al's scoring system, Mor et al's scoring system and International severity score of FMF (ISSF) scoring system were applied to all patients. Genotypes were compared according to disease severity scores. Results: When the patients were divided into 4 groups as M694V homozygous, heterozygous, M694V/ other allele combined heterozygous and other mutations, according to the score of Pras et al., the frequency of mild disease tended to be less in the M694V homozygous group. When the patients divided as homozygous M694V, heterozygous M694V, heterozygous E148Q, heterozygous M694V/ M680I combined mutations, according to the score of Pras et al., mild disease was found to be less common in the homozygous M694V group. When patients were divided into homozygous and heterozygous M694V (combined with other allele or single) groups, the disease was more severe in the homozygous M694V group according to the three scoring systems. In the concordance analysis between scoring systems, while a good agreement was found between Mor et al.'s scoring system and ISSF, the agreement with Pras et al.'s scoring system was weak Conclusions: Based on the scoring system described by Pras et al., the rate of severe disease was higher in patients with homozygous M694V allele, whereas the rate of mild disease was statistically significantly higher in the heterozygous group (combined with other allele or single) compared with homozygous group. From this, we can conclude that the M694V homozygous mutation causes more severe disease than the M694V heterozygous mutation, and even more severe disease than its combination with another pathogenic mutation, one of which is M694V.

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“…Birçok araştırmada homozigot M694V mutasyonunun hastalığın daha erken başlamasına ve ciddi tablolar ile sonuçlanmasına neden olacağı öne sürülmüş olup bu mutasyonu taşıyan hasta grubunda diğer gruplardan daha yüksek hastalık ağırlık skoru gösterilmiştir (2,13,21,22). Çalışmamızda da benzer olarak en yüksek hastalık ağırlık skorları M694V mutasyonunu homozigot taşıyan grupta bulundu.…”

Section: Discussionunclassified

Relationship Among Clinical, Laboratory Findings, Disease Severity Scores and Genetic Mutations in Patient with Familial Mediterranean Fever

Yavuz¹,

Duru²,

Elevli³

2018

Haseki

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Amaç: Ailevi Akdeniz Ateşi (AAA), kendi kendini sınırlayan ateşin eşlik ettiği seröz membranların iltihabına bağlı ataklarla seyreden bir otoenflamatuvar hastalıktır. Çalışmamızda AAA tanılı hastalarda klinik ve laboratuvar bulgular ile gen mutasyonları ve hastalık ağırlık skorları arasındaki ilişkiyi araştırmayı amaçladık. Yöntemler: Çalışmamızda 27'si kız, 27'si erkek toplam 54 hastanın bölgesel dağılımları, klinik, laboratuvar bulguları ve taşıdıkları MEFV gen mutasyonları incelendi. Ağırlık skorlamasına ve gen mutasyonlarına göre oluşturulan gruplarda klinik/laboratuvar parametrelerin karşılaştırılması yapıldı. Bulgular: Hastaların yaş ortalaması 10,50±3,66 yıl olarak belirlendi. En sık görülen yakınmalar karın ağrısı, ateş ve eklem ağrısı idi. M694V mutasyonu (%54,6) en sık görülen mutasyon olup bunu E148Q (%11,1) izlemekteydi. Hastalık ağırlık skoru M694V homozigot hastalarda diğer hastalara göre daha yüksekti. Ağırlık skoruna göre orta-ağır hastalık grubunda hafif hastalık grubundan anlamlı daha yüksek artrit, eritem ve miyalji görüldü. Atak sırasındaki sedimantasyon hızı orta-ağır hastalık grubunda daha yüksek bulundu. Hastalarımızın en sık Doğu Anadolu Bölgesi kökenli olduğu belirlendi. Sonuç:AAA'lı hastalarda M694V homozigotluğu daha ciddi hastalık seyri ile birliktedir. Atak sırası sedimantasyon hızı yüksek olan hastalarda hastalık ağır seyredebilir. Anahtar Sözcükler: Ailevi Akdeniz Ateşi, MEFV gen mutasyonu, hastalık ağırlık skoru Aim: Familial Mediterranean Fever (FMF) is an auto inflammatory disease characterized by recurrent attacks of fever and inflammation of serosal tissues. In this study, we aimed to investigate the relationship of clinical and laboratory findings with genetic mutations and disease severity scores in children diagnosed with FMF. Methods: Fifty-four patients (27 girls and 27 boys) were enrolled in this study. The subjects were divided into groups according to disease severity score and gene mutations. Regional distributions, clinical and laboratory findings and MEFV mutations were evaluated. Clinical and laboratory findings were compared between the groups. Results: The mean age of the patients was 10.50±3.66 years. The most frequent complaints were fever, abdominal pain and arthralgia. The most frequent mutation was M694V (54.6%), followed by E148Q mutation (11.1%). The disease severity score in patients with M694V homozygous was higher than in other patients. Arthritis, erythema and myalgia were found to be higher in moderate-severe disease group than in mild disease group. Erythrocyte sedimentation rate during attacks were found to be higher in moderate-severe disease group.The patients were mostly from Eastern Anatolia region. Conclusion: Homozygous M694V mutation is associated with a more severe clinical course. The disease may be severe in patients with high sedimentation rate during attacks.

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Serum Amyloid A Type 1 Gene Polymorphism in Egyptian Children with Familial Mediterranean Fever

Cited by 10 publications

References 34 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

Ailevi Akdeniz Ateşi Hastalarında Gen Mutasyonlarının Hastalık Ciddiyet Skorları Üzerine Etkisi

Relationship Among Clinical, Laboratory Findings, Disease Severity Scores and Genetic Mutations in Patient with Familial Mediterranean Fever

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