CommonMEFVmutations in Iranian Azeri Turkish patients with Behçet's disease

Esmaeili, Mohsen; Bonyadi, Mortaza; Khabbazi, Alireza; Aa, Ebrahimi; Sharif, Sakineh-Khatoun; Hajialilo, Mehrzad; Kolahi, Sousan; Dastgiri, Saeed

doi:10.3109/03009742.2011.562532

Cited by 31 publications

(23 citation statements)

References 14 publications

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“…Discussion HSP is an inflammatory multisystemic disorder with unknown etiology. It seems that genetic and environmental factors such as infections trigger the disease (9). Based on some studies, genetic variants in human leukocyte antigen (HLA), angiotensin converting enzyme (ACE), and the MEFV gene may confer susceptibility on HSP (4).…”

Section: Resultsmentioning

confidence: 99%

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MEFV mutations in Iranian Azari Turkish patients with Henoch–Schönlein purpura

Bonyadi¹,

Younesi²,

Rafeey³

et al. 2016

Turk J Med Sci

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Background/aim: The aim of the current study was to screen the rate of MEFV mutations in Henoch-Schönlein purpura (HSP) and to investigate the association of these mutations plus clinical symptoms with HSP disease in the Iranian Azari Turkish ethnic group. Materials and methods:The study groups included 40 unrelated HSP patients and 200 apparently healthy people without any kind of inflammatory diseases as a control group. Molecular screening was performed for eight main mutations, namely M694V, M694I, M680I, V726A, E148Q, R761H, P396S, and R408Q, using polymerase chain reaction (PCR), restriction fragment length polymorphism (RFLP), and sequencing.Results: Out of the 40 studied patients, 27 subjects (67.5%) did not show any mutation, whereas 10 patients (25%) were heterozygotes for one of the following mutations: M694V, M680I, V726A, E148Q. Moreover, three patients (7.5%) were compound heterozygotes for P369S and R408Q. The significant differences between the patient and control groups for M680I, V726A, E148Q, P396S, and R408Q were P = 0.0043, P = 0.0324, P = 0.0145, P = 0.0043, and P = 0.0043, respectively. Furthermore, no significant difference in clinical manifestations was observed between the two groups of patients with and without mutations. Conclusion:Based on the results, MEFV mutations could be considered effective genetic factors for development of HSP in the Iranian Azari Turkish ethnic group.

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Section: Resultsmentioning

confidence: 99%

“…To compare the frequency of gene carriers, chi-square test and Fisher's exact test were applied (9). The odds ratios (OR) and confidence intervals (CI) at the significance level of 95% were calculated and reported for all the data (10).…”

Section: Discussionmentioning

confidence: 99%

MEFV mutations in Iranian Azari Turkish patients with Henoch–Schönlein purpura

Bonyadi¹,

Younesi²,

Rafeey³

et al. 2016

Turk J Med Sci

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“…Behcet's disease (BD) has a vasculitic component in the physiopathologic mechanism and is also seen more often in FMF patients. Both syndromes have a higher prevalence in the ancient silk road, and some MEFV mutations may increase susceptibility in BD [11] . Cochlear involvement has been shown to be present by audiological assessment in the course of BD [12,13] .…”

Section: Discussionmentioning

confidence: 99%

Inner Ear Involvement in Children with Familial Mediterranean Fever

Bucak¹,

Ulu²,

Bükülmez³

et al. 2014

Int Adv Otol

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OBJECTIVE:Familial Mediterranean fever (FMF) is the most common and best understood disease of hereditary periodic fever syndromes. Various degrees of sensorineural hearing loss can be seen in the progression of some hereditary periodic fever syndromes. There are very limited and controversial studies in the literature with regard to hearing loss in patients diagnosed with FMF. We aimed to evaluate cochlear function in children with FMF. MATERIALS and METHODS:Forty-nine patients diagnosed with FMF and 49 age-and sex-matched controls were included in the study. All of the children had undergone a routine ear-nose-throat examination. Patients with pathological findings in the otologic examination or a history of recurrent otitis media; using proven ototoxic drugs; or having an abnormal tympanometry finding were excluded from the study. Following audiologic evaluation, tympanometry and distortion product otoacoustic emissions testing were conducted on all subjects. Pure-tone and high-frequency audiometry were carried out on 40 subjects from both groups who could cooperate in the testing. RESULTS:Hearing thresholds of FMF patients were found to be increased at all frequencies (250 to 16,000) (p<0.001). The difference between the hearing thresholds of the two groups could be seen more prominently at higher frequencies, and despite a statistically significant difference, the hearing thresholds of the two groups were within the normal range of tonal audiometry frequencies. In the otoacoustic emission evaluation, the distortion products and signal/noise ratio of children with FMF were lower in the tested frequencies from 1000 to 4000 Hz (p<0.001). CONCLUSION:Our results demonstrated that FMF disease may cause hearing loss in children with FMF. Hearing loss in children with familial Mediterranean fever has been observed, showing increased hearing thresholds at all frequencies in audiometry, together with decreased distortion products and signal: noise ratios, demonstrated by distortion product otoacoustic emissions testing. We think this might be due to cochlear involvement. Regular follow-up of auditory function in FMF children may be helpful for determining early possible hearing loss.

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“…Occasionally, BD also involves visceral organs, such as those of the gastrointestinal, vascular and neurological systems (1). Several research groups have suggested that the familial Mediterranean fever (MEFV) gene is linked to susceptibility to BD and may be the modifier gene in patients with BD (2)(3)(4)(5)(6). We herein present the case of a patient with entero-Behçet's disease who had a rare MEFV variant and for whom colchicine had beneficial effects.…”

Section: Introductionmentioning

confidence: 97%

Mediterranean fever (MEFV) Variant P369S/R408Q in a Patient with Entero-Behçet's Disease who Successfully Responded to Treatment with Colchicine

et al. 2014

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A 57-year-old Japanese woman who had been diagnosed as having entero-Behçet's disease nine years earlier was admitted with a persistent high-grade fever. An Mediterranean fever (MEFV) gene analysis revealed the compound heterozygous P369S-R408Q variant. She was treated with colchicine, and her symptoms immediately improved. Prednisolone (PSL) was added to treat the punched-out ulcers in the terminal ileum, leading to remission. There has been no relapse since the PSL was discontinued. In Behçet's disease patients with MEFV variants, the use of colchicine should therefore be considered in such patients as well as immunosuppressive therapy.

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CommonMEFVmutations in Iranian Azeri Turkish patients with Behçet's disease

Abstract: Definite MEFV mutations seem to be a susceptibility factor for BD in our cohort of Iranian Azeri Turkish patients.

Cited by 31 publications

References 14 publications

MEFV mutations in Iranian Azari Turkish patients with Henoch–Schönlein purpura

MEFV mutations in Iranian Azari Turkish patients with Henoch–Schönlein purpura

Inner Ear Involvement in Children with Familial Mediterranean Fever

Mediterranean fever (<i>MEFV</i>) Variant <i>P369S/R408Q</i> in a Patient with Entero-Behçet's Disease who Successfully Responded to Treatment with Colchicine

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