Disease severity in children and adolescents with familial Mediterranean fever: a comparative study to explore environmental effects on a monogenic disease

2008 ◽  
Vol 68 (2) ◽  
pp. 246-248 ◽  
Author(s):  
S Ozen ◽  
N Aktay ◽  
E Lainka ◽  
A Duzova ◽  
A Bakkaloglu ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Disease Severity ◽  
Group Living ◽  
Scoring Systems ◽  
Monogenic Disease ◽  
Secondary Amyloidosis ◽  
Turkish Children ◽  
Severity Scores ◽  
Significant Difference ◽  
Mediterranean Fever

Background:Worldwide, familial Mediterranean fever (FMF) is the most common autoinflammatory disease. It has been suggested that environmental factors affect the phenotype as some patients do not develop the complication of secondary amyloidosis.Objective:To analyse whether disease severity in Turkish children with FMF, living in Turkey and Germany is different.Patients and methods:A total of 55 Turkish children living in Turkey were compared with 45 Turkish children born and raised in Germany. Mean age among the group from Turkey and Germany was 42.2 and 44.29 months, respectively. M694V was the leading mutation in both groups. The severity scores were compared with two scoring systems, modified according to published paediatric data for dosage.Results:There was no significant difference between the mean C-reactive protein and erythrocyte sedimentation rate levels of the two groups. According to the modified Sheba Center score, 78.2% of patients from the group living in Turkey had a severe course compared with 34.1% from the group living in Germany. The modified score of Pras et al also showed more severe disease in the patients from Turkey. The difference between the two groups for both scoring systems were significant (both p<0.05).Conclusions:We believe the modified scores that we introduce can be widely used for children. Our results suggest that the environment affects the phenotype of a monogenic disease of the innate inflammatory pathway.

scholarly journals Toll-like receptor-4 gene variations in Egyptian children with familial Mediterranean fever

2021 ◽  
Vol 48 (1) ◽  
Author(s):  
Yomna Farag ◽  
Samia Salah ◽  
Hanan Tawfik ◽  
Mai Hamed ◽  
Huda Marzouk
Keyword(s):  
Familial Mediterranean Fever ◽  
Disease Severity ◽  
Gene Mutation ◽  
Rflp Analysis ◽  
Gene Variants ◽  
Gene Variant ◽  
Toll Like Receptor ◽  
Toll Like Receptor 4 ◽  
Egyptian Children ◽  
Mediterranean Fever

Abstract Background Familial Mediterranean fever (FMF) is an autosomal recessive disorder affecting people in the region of the Mediterranean Sea. It is usually associated with mutation in Mediterranean fever (MEFV) gene that encodes the pyrin protein, which affects the innate inflammatory response. Toll-like receptors (TLR) are a family of pattern recognition receptors that recognize pathogenic microbes and activate antimicrobial defense mechanisms. Toll-like receptor 4 (TLR-4) is concerned with recognition of gram-negative organisms. There is growing clinical evidence suggesting a role for expression of TLRs in the immune pathogenesis of FMF. Thus, the aim of the current study was to evaluate the presence of TLR-4 (p.Asp299Gly) and TLR-4 (p.Thr399Ile) gene variants in association with Egyptian children having FMF, furthermore, its effect on disease course and severity. Results Seventy Egyptian children diagnosed as having FMF, together with 50 age and gender-matched controls were enrolled in the study. The TLR-4 (p.Asp299Gly) and (Thr399Ile) gene variants were determined by PCR-RFLP analysis for all studied patients and controls. TLR-4 p.Asp299Gly gene variant was detected in 1 (1.4%) of the patients and p.Thr399Ile gene variant was detected in 2 (2%). None of the controls had any of the two tested gene variants. All found variations were heterozygous. We could not find a statistically significant association with disease severity in cases with or without TLR-4 gene variants (P = 0.568). Patients with M694V gene mutation showed a higher disease severity (P = 0.035). Conclusion TLR-4 (p.Asp299Gly) and (p.Thr399Ile) gene variants were not found to have a link with the occurrence, the clinical picture of FMF, its severity, and response to colchicine treatment in Egyptian children. M694V gene mutation seems to be associated with higher disease severity. Further larger studies are needed to verify these results.

Familial Mediterranean fever in two Bedouin families: Mutation analysis and disease severity

2000 ◽  
Vol 92 (4) ◽  
pp. 247-249 ◽  
Author(s):  
Joseph Press ◽  
Yael Shinar ◽  
Pnina Langevitz ◽  
Avi Livneh ◽  
Mordehai Pras ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Disease Severity ◽  
Mutation Analysis ◽  
Mediterranean Fever

scholarly journals The Frequency of Familial Mediterranean Fever Gene Mutations and the Correlations between Phenotype and Genotype in Turkish Children

2020 ◽  
pp. 20-26
Author(s):  
Hakan Erdogan ◽  
Ayse Cavidan Sonkur ◽  
Orhan Görükmez ◽  
Ayse Erdogan ◽  
Dilek Damla Saymazlar ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Mutation Screening ◽  
Mefv Gene ◽  
Gene Mutations ◽  
Retrospective Case ◽  
Turkish Children ◽  
Pathogenic Variants ◽  
Frequent Mutations ◽  
Training And Research ◽  
Mediterranean Fever

Aim: Familial Mediterranian Fever is an autosomal recessive disease characterized by recurrent inflammatory attacks of serosal membranes. The aim of the current study was to determine the frequency of the Mediterranean fever (MEFV) gene pathogenic variants in 158 children (78 male, 80 female) diagnosed with Familial Mediterranean Fever (FMF) and to compare the phenotype-genotype correlation. Methods: In our retrospective case-control study, 158 FMF patients (78 males, 80 females) who were diagnosed with MEFV gene mutation in Bursa Yuksek Ihtisas Training and Research Hospital, Department of Pediatrics between January 2018 and June 2019 were included in the study.  Mutation screening of the MEFV gene was performed for 12 mutations and the 8 most common mutations were taken into the study. Results: Abdominal pain (77.8%), fever (74%) and arthralgia (46.2%) were the most prevalent clinical features in our patients. The most frequent mutations were M694V, E148Q, V726A, M680I and P369S. In cases with M694 mutation, it was noted that the incidence of arthritis was 2.5 times, appendectomy frequency 3.1 times higher, and early diagnosis probability 3.2 times higher. The frequency of chest pain was 2.9 times higher in the M680I mutation, and the frequency of arthralgia was 2.2 times higher in the P369S mutation. Conclusion: Patient’s mutations in FMF patients are important for clinical expectations, and some mutations such as P369S are not as innocent as expected. However, reevaluation of phenotypes of mutations that are rare with more patients will be significant. 

Age of onset as an influencing factor for disease severity in children with familial Mediterranean fever

2020 ◽  
Vol 31 (1) ◽  
pp. 219-222
Author(s):  
Ayşe Tanatar ◽  
Şerife Gül Karadağ ◽  
Mustafa Çakan ◽  
Hafize Emine Sönmez ◽  
Nuray Aktay Ayaz
Keyword(s):  
Familial Mediterranean Fever ◽  
Disease Severity ◽  
Age Of Onset ◽  
Influencing Factor ◽  
Mediterranean Fever
Sign in / Sign up

Export Citation Format

Share Document