Familial Mediterranean Fever in Armenians. Analysis of 100 Cases

Schwabe, Arthur D.; Peters, Robert S.

doi:10.1097/00005792-197411000-00005

Cited by 230 publications

(130 citation statements)

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“…2,11 The ra te of ery si pe las-li ke ery the ma in our study was hig her than Arabs and Ar me ni ans. 13,14 The fi ve most com mon mu ta ti ons are M694V, M680I, M694I, E148Q, and V726A. 1,3 The Met694Val mu ta ti on was the most com mon one (60.9%) of the tes ted al le les in our study gro up, as re por ted in ot her stu di es from Tur key.…”

Section: Discussionsupporting

confidence: 50%

The Effect of M694V Mutation on Clinical Presentation and Acute Phase Response in Children with Familial Mediterranean Fever: Single Center Experience in Western Turkey

Anıl¹,

Anıl²,

Ertaner³

et al. 2011

Turkiye Klinikleri J Med Sci

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A AB BS S T TR RA AC CT T O Ob b j je ec c t ti i v ve e: : The aim of this study was to in ves ti ga te the phe noty pe-ge noty pe cor re la tion and the re la ti ons hip bet we en cli ni cal se ve rity sco re and acu te pha se res pon se in chil dren with fa mi li al Me di ter ra ne an fe ver (FMF) in Wes tern Tur key. M Ma a t te e r ri i a al l a an nd d M Me et t h ho od ds s: : The me di cal records of 87 FMF chil dren (me an age: 11.1 ± 3.6 ye ars; ran ge: 3-20 ye ars; me an age at di ag no sis: 8.3 ± 3.5 ye ars; me an fol low up: 31.2 ± 27.7 months; fe ma le: 55.2%) mu ta ti ons on MEFV ge ne we re retros pec ti vely re vi e wed. We used Tel Has ho mer di ag nos tic cri te ri a and se ve rity sco re. Cor re la ti ons bet we en whi te blo od cell (WBC), C-re ac ti ve pro te in (CRP) and eryt hrocy te se di men ta ti on ra te (ESR) du ring at tack-pe ri od as well as cli ni cal se ve rity sco res we re in ves ti ga ted. The pa ti ents we re gro u ped ac cor ding to one or two al le led mu ta ti ons and the pre sen ce of the M694V mu ta ti on. Clini cal pa ra me ters and WBC, CRP and ESR le vels we re com pa red among the gro ups. R Re e s su ul lt ts s: : M694V ho mozy go sity was fo und in 22 pa ti ents (25.3%). Amy lo i do sis was se en in six pa ti ents (6.9%). All of them had M694V ho mozy go te mu ta ti on. The me a su red WBC (r= 0.294; p: 0.006), CRP (r= 0.720; p< 0.001) and ESR (r= 0.716; p< 0.001) va lu es we re cor re la ted with cli ni cal se ve rity sco re. The pre sen ce of two mu ta ted al le les or M694V ho mozy go sity was as so ci a ted with a hig her cli ni cal se ve rity sco re, hig her le vels of WBC, CRP and ESR as well as hig her risk of amy lo i do sis com pa red to the others (p< 0.05). C Co on nc c l lu u s si i o on n: : M694V ho mozy go te ge noty pe shows hig her acu te pha se res pon se du ring at tack-pe ri od and se ve re cli ni cal co ur se in chil dren with FMF in Wes tern re gi on of Tur key. K Ke ey y W Wo or rd ds s: : Fa mi li al Me di ter ra ne an Fe ver; acu te-pha se re ac ti on; ge noty pe; child; Tur key Ö ÖZ ZE ET T A Am ma aç ç: : Bu ça lış ma nın ama cı Tür ki ye' nin ba tı sın da ki ai le sel Ak de niz ate şi (AA A) ta nı lı ço cuklar da fe no tip-ge no tip ko re las yo nu nu ve kli nik şid det sko ru ile akut faz ya nı tı ara sın da ki iliş ki yi araş tır mak tı. G Ge e r re eç ç v ve e Y Yö ön n t te em m l le er r: : MEFV ge nin de mu tas yon sap ta nan AA A ta nı lı 87 ço cu ğun (orta la ma yaş: 11.1 ± 3.6 yıl; ara lık: 3-20 yıl; ta nı anın da ki or ta la ma yaş: 8.3 ± 3.5 yıl; or ta la ma iz lem sü re si: 31.2 ± 27.7 ay; kız: %55.2) tıb bi ka yıt la rı ge ri ye dö nük ola rak göz den ge çi ril di. Tel Has homer ta nı kri ter le ri ve şid det sko ru kul la nıl dı. Atak sı ra sın da ki be yaz kü re sa yı sı (BKS), C-re ak tif pro te in (CRP) ve erit ro sit se di men tas yon hı zı (ESH) ile kli nik şid det sko ru ara sın da ki ko re las yonlar araş tı rıl dı. Has ta lar bir ve ya iki alel de mu tas yon ol ma du ru mu ve M694V mu tas yo nu nun var lı -ğı na gö...

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Section: Discussionsupporting

confidence: 50%

The Effect of M694V Mutation on Clinical Presentation and Acute Phase Response in Children with Familial Mediterranean Fever: Single Center Experience in Western Turkey

Anıl¹,

Anıl²,

Ertaner³

et al. 2011

Turkiye Klinikleri J Med Sci

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“…A typical example is the case of amyloidosis. Many years ago, it was shown that in Armenian FMF patients living in Armenia, the prevalence of amyloidosis was higher than in Armenian FMF patients living in the US (34). Recently, similar results were reported in Turkish patients.…”

Section: Clinical Manifestations Of Fmf In Various Populationsmentioning

confidence: 63%

Familial Mediterranean Fever in the World

Ben-Chétrit¹,

Touitou²

2009

Arthritis & Rheumatism

374

262

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“…The most frequent symptoms in those of Jewish origin were fever (100%), abdominal pain (95%), and arthritis (77%) (21). The most frequent symptoms in Armenians were fever (100%), abdominal pain (96%), chest pain (87%), and arthritis (37%) (22). In our study, the most frequent reasons were abdominal pain (44.7%), arthralgia (20%), fever (16.7%), chest pain (1.3%), and other reasons (20%).…”

Section: M680i(g/mentioning

confidence: 99%

MEFV Mutation Frequency in Pediatric Patients with Familial Mediterranean Fever and its Relationship with Clinical Phenotypes in Marmara Region of Turkey

et al. 2017

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Background: Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterised by recurrent fever, peritonitis, pleuritis, and arthritis. Three hundred and seventeen mutations and polymorphisms related to FMF have been identified to date. Objectives: The evaluation of the distribution of genetic mutations in children whose FMF study was conducted in Marmara region in Turkey and the relationship between clinical findings and the mutation was aimed in the study. Methods:The files of all patients whose pre-diagnosis of FMF and MEFV gene mutation analysis were made, were evaluated retrospectively. The results of the MEFV gene mutation analysis of the patients were screened retrospectively. Common MEFV gene mutation analyses were studied. The age, gender, presenting complaints, and histories of the patients were obtained from the files and records.

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Familial Mediterranean Fever in Armenians. Analysis of 100 Cases

Cited by 230 publications

References 0 publications

The Effect of M694V Mutation on Clinical Presentation and Acute Phase Response in Children with Familial Mediterranean Fever: Single Center Experience in Western Turkey

The Effect of M694V Mutation on Clinical Presentation and Acute Phase Response in Children with Familial Mediterranean Fever: Single Center Experience in Western Turkey

Familial Mediterranean Fever in the World

MEFV Mutation Frequency in Pediatric Patients with Familial Mediterranean Fever and its Relationship with Clinical Phenotypes in Marmara Region of Turkey

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