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

Abstract

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...

Association Between Acute Phase Reactants (High Sensitivity C-Reactive Protein and Erythrocyte Sedimentation Rate) and the Genotype of Familial Mediterranean Fever (FMF) in Patients and Healthy Controls

“…Another study showed that FMF children with M694V homozygote genotype were associated with a higher acute phase response during FMF attacks and severe clinical symptoms [19]. It should be noted that both studies reported the acute phase reactant levels either during the attack free period or the attack-periods and not at the time of diagnosis like what we did in this paper.…”