Homozygous M694V as a risk factor for amyloidosis in Turkish FMF patients

Tekin, Mustafa; Özkaya, Ozan; Özen, Seza

doi:10.1016/j.gene.2011.10.012

Cited by 55 publications

(36 citation statements)

References 37 publications

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“…This strong association has been confirmed also in Armenia and Israel. [20] These results should raise the necessity to carefully consider the early treatment of asymptomatic or mildly symptomatic patients with homozygous M694V, especially in countries where amyloidosis is rare like Egypt, moreover treatment in such cases should not be given on an on demand basis.…”

Section: Discussionmentioning

confidence: 99%

Phenotype-genotype updates from familial Mediterranean fever database registry of Mansoura University Children′ Hospital, Mansoura, Egypt

et al. 2014

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BACKGROUND:Familial Mediterranean fever (FMF) is autosomal recessive disease that affects people from Mediterranean region, Europe and Japan. Its gene (Mediterranean fever [MEFV]) has more than 100 mostly non-sense mutations.OBJECTIVES:The objective of the following study is to provide some phenotype-genotype correlates in FMF by categorizing the Egyptian FMF cases from Delta governorates after analysis of the four most common mutations of MEFV gene (M680I, M694I, M694V, V726A).SUBJECTS AND METHODS:Clinically, suspected FMF cases using Tel-Hashomer criteria were enrolled in the study. Cases were referred to Mansoura University Children's Hospital that serves most of the most middle Delta governorates, in the period from 2006 to 2011. Subjects included 282 males and 144 females, mean age of onset 9.3 ± 2.2 years. All cases were analyzed for these mutations using amplification refractory mutation system based on the polymerase chain reaction technique. Five FMF patients agreed to undergo renal biopsy to check for development of amyloidosis. Analysis of data was carried out using SPSS (SPSS, Inc., Chicago, IL, USA).RESULTS:Mutation was found in 521 out of 852 studies alleles, the most frequent is M694V (35.4%) followed by M694I, V726A and M680I. 11 cases were homozygous; 7 M694V, 3 M680I and only one M694I case. Severe abdominal pain occurred in 31 (7.28%) but severe arthritis in 103 cases (24.2%). Strong association was found between arthritis and homozygous mutant compared with single and double heterozygous (72.7% vs. 33.3% and 20.24%, P < 0.001). Four amyloid cases were M694V positive.CONCLUSION:M694V allele is the most common among Egyptian FMF especially those with amyloidosis. We recommend routine check for amyloidosis in FMF cases to statistically validate this link.

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Section: Discussionmentioning

confidence: 99%

Phenotype-genotype updates from familial Mediterranean fever database registry of Mansoura University Children′ Hospital, Mansoura, Egypt

et al. 2014

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“…Familial Mediterranean fever is one of the leading causes of secondary amyloidosis, which is still the more common type of systemic amyloidosis in developing countries 19 . Synovitis and inflammation due to amyloid deposition may result first in enthesophyte formation and then in erosion 8 .…”

Section: Discussionmentioning

confidence: 99%

Increased Enthesopathy in Patients With Familial Mediterranean Fever

Özkan¹,

Çetin²,

İnci³

et al. 2013

Journal of Ultrasound in Medicine

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“…In 2012, Akpolat et al did a comprehensive literature review and concluded that M694V was associated with amyloidosis in the Turkish population as well [32]. A final statement has come from the Single Hub and Access point for pediatric Rheumatology in Europe (SHARE) initiative.…”

Section: Debate: Disease Causing Mutations Are Loss-of-function Mutatmentioning

confidence: 99%

The myths we believed in familial Mediterranean fever: what have we learned in the past years?

Özen

Batu

2015

Semin Immunopathol

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Familial Mediterranean fever is the most common monogenic periodic fever syndrome over the world especially in the eastern Mediterranean. It presents with recurrent and self-limited inflammatory attacks of fever and polyserositis along with high acute-phase reactants. The disease is associated with mutations in the MEFV gene that encodes pyrin, a component of inflammasome, which leads to exaggerated inflammatory response through uncontrolled production of interleukin 1. With the identification of the gene associated with the disease, we believed that everything was solved and that this was an ordinary monogenic disease with autosomal recessive inheritance. However, through the breathtaking progress in the basic research field as well as the clinical care of these patients, we have understood that the picture for this monogenic disorder was more complicated than we had anticipated. In this review, we have discussed the myths we believed in familial Mediterranean fever and how they have evolved during the past years.

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Homozygous M694V as a risk factor for amyloidosis in Turkish FMF patients

Cited by 55 publications

References 37 publications

Phenotype-genotype updates from familial Mediterranean fever database registry of Mansoura University Children′ Hospital, Mansoura, Egypt

Phenotype-genotype updates from familial Mediterranean fever database registry of Mansoura University Children′ Hospital, Mansoura, Egypt

Increased Enthesopathy in Patients With Familial Mediterranean Fever

The myths we believed in familial Mediterranean fever: what have we learned in the past years?

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