Tijaabada MTHFR Mutation

Qanacsan

• Waa maxay tijaabada isbeddelka MTHFR?
• Maxaa loo adeegsadaa?
• Maxaan ugu baahanahay tijaabada isbeddelka MTHFR?
• Maxaa dhacaya inta lagu jiro baaritaanka isbeddelka MTHFR?
• Ma u baahanahay inaan sameeyo wax walba si aan ugu diyaargaroobo imtixaanka?
• Ma jiraan wax khatar ah oo imtaxaanku leeyahay?
• Maxay natiijooyinka ka dhigan yihiin?
• Ma jiraan wax kale oo aan u baahanahay inaan ka ogaado baaritaanka ku-beddelashada MTHFR?
• Tixraacyo

Waa maxay tijaabada isbeddelka MTHFR?

Tijaabadani waxay raadineysaa isbeddello (isbeddello) ku dhaca hidda-wadaha loo yaqaan MTHFR. Hidda-wadaha (genes) waa cutubyada aasaasiga ah ee dhaxalka ee laga soo gudbiyay hooyadaa iyo aabahaaga.

Qof kastaa wuxuu leeyahay laba hiddo-wadaha MTHFR, mid hooyadiis ka dhaxashay midna aabbahaa. Is-beddelku wuxuu ku dhici karaa hal ama labadaba hiddo-wadaha MTHFR. Waxaa jira noocyo kala duwan oo isbeddello MTHFR ah. Tijaabada 'MTHFR' waxay raadineysaa laba ka mid ah isbeddelladan, oo sidoo kale loo yaqaan noocyo. Noocyada MTHFR waxaa loo yaqaan C677T iyo A1298C.

Hidda-wadaha 'MTHFR' wuxuu jirkaaga ka caawiyaa inuu dumiyo walax loo yaqaan 'homocysteine'. Homocysteine ​​waa nooc ka mid ah amino acid, kiimiko jirkaagu u isticmaalo sameynta borotiinada. Caadi ahaan, folic acid iyo fiitamiinada kale ee B ayaa burburiya homocysteine ​​waxayna u beddelaan walxo kale oo jirkaagu u baahan yahay. Markaa waa inuu jiraa wax aad u yar oo ah homocysteine ​​oo ku harta socodka dhiigga.

Haddii aad leedahay isbeddel MTHFR, hiddo-wadahaaga MTHFR ayaa laga yaabaa inuusan si sax ah u shaqeyn. Tani waxay sababi kartaa in badan oo ah 'homocysteine' inay ku soo ururto dhiigga, taasoo keenta dhibaatooyin caafimaad oo kala duwan, oo ay ka mid yihiin:

• Homocystinuria, cilad ku dhacda indhaha, kala-goysyada, iyo awoodaha garashada. Badanaa wuxuu bilaabmaa caruurnimada hore.
• Khatarta sii kordheysa ee cudurka wadnaha, istaroogga, dhiig karka, iyo xinjirowga dhiigga

Intaas waxaa sii dheer, haweenka qaba isbeddelada MTHFR waxay leeyihiin halista ugu sareysa ee cunug leh mid ka mid ah cilladaha dhalashada ee soo socda:

• Spina bifida, oo loo yaqaan cillad ku jirta dhuunta neerfaha. Tani waa xaalad ah in lafaha lafdhabarta aysan si buuxda ugu dhowaan agagaarka lafdhabarta.
• Anencephaly, nooc kale oo cillad ah tuubada neerfaha. Ciladan, qaybo ka mid ah maskaxda iyo / ama qalfoofka ayaa laga yaabaa inay maqnaadaan ama qaabeeyaan.

Waad yareyn kartaa heerkaaga homocysteine ​​adiga oo qaata folic acid ama fiitamiinno kale oo B ah Kuwaani waxaa loo qaadan karaa in lagu daro ama lagu daro isbadalada cuntada. Haddii aad u baahan tahay inaad qaadatid folic acid ama fiitamiinno kale oo B ah, takhtarkaaga ayaa kugula talin doona xulashada adiga kuugu habboon.

Magacyada kale: plasma total homocysteine, methylenetetrahydrofolate reductase DNA mutation analysis

Maxaa loo adeegsadaa?

Tijaabadan waxaa loo adeegsadaa in lagu ogaado haddii aad leedahay mid ka mid ah labada isbadal ee MTHFR: C677T iyo A1298C. Waxaa badanaa la isticmaalaa ka dib marka baaritaannada kale ay muujiyaan inaad ka sarreyso heerarka caadiga ah ee homocysteine ​​ee dhiigga ku jira. Xaaladaha sida kolestaroolka sare, cudurka qanjirka 'thyroid', iyo cunno yaraanta ayaa sidoo kale sare u qaadi kara heerarka 'homocysteine'. Tijaabada 'MTHFR' ayaa xaqiijin doonta in heerarka sare ay keeneen isbeddel hidde ah.

In kasta oo isbeddelka MTHFR uu keenayo halista sare ee cilladaha dhalashada, baaritaanka badanaa laguma taliyo haweenka uurka leh. Qaadashada kaabista folic acid inta lagu guda jiro uurka waxay si weyn u yareyn kartaa halista cilladaha dhalashada ee neerfaha. Marka dumarka uurka leh badankood waxaa lagu dhiirrigeliyaa inay qaataan folic acid, ha ahaadaan ama ha yeeshaan isbadal MTHFR.

Maxaan ugu baahanahay tijaabada isbeddelka MTHFR?

Waxaad u baahan kartaa baaritaankaan haddii:

• Waxaad qaadatay tijaabo dhiig oo muujisay heerar ka sarreeya heerarka caadiga ah ee 'homocysteine'
• Qof qaraabo dhow ah ayaa laga helay isbadal MTHFR
• Adiga iyo / ama xubnaha qoyskaaga dhow waxaad taariikh u leedahay xanuun dhicis ah oo ku dhaca wadnaha ama xanuunnada xididdada dhiigga

Ilmahaaga cusub ayaa sidoo kale laga yaabaa inuu helo baaritaanka MTHFR oo qayb ka ah baaritaanka joogtada ah ee dhallaanka cusub. Baadhitaanka ilmaha dhasha ahi waa baadhitaan dhiig oo fudud oo lagu hubiyo cuduro kala duwan oo halis ah.

Maxaa dhacaya inta lagu jiro baaritaanka isbeddelka MTHFR?

Xirfadlaha daryeelka caafimaadka ayaa tijaabo dhiig ka qaadi doona xididka gacantaada, isagoo isticmaalaya cirbad yar. Kaddib cirbada la geliyo, qadar yar oo dhiig ah ayaa lagu ururin doonaa tuubada baaritaanka ama fijaan. Waxaa laga yaabaa inaad dareento xoog wax yar ah markii irbadda ay soo galayso ama ay ka baxeyso. Tani badanaa waxay qaadataa in ka yar shan daqiiqo.

Baadhitaanka dhallaanka cusub, xirfadlaha daryeelka caafimaad wuxuu cidhibta canuggaaga ku nadiifin doonaa aalkolo wuxuuna ciribta ciribta ku durayaa irbad yar. Isaga ama iyadu waxay soo ururin doonaan dhawr dhibcood oo dhiig ah waxayna ku dhejin doonaan faashad goobta.

Baaritaanka badanaa waxaa la sameeyaa marka ilmuhu jiro 1 ilaa 2 maalmood, badiyaa cisbitaalka uu ku dhashay ama iyadu. Haddii ilmahaagu aanu ku dhalan cisbitaalka ama haddii aad ka baxday cusbitaalka ka hor intaan ilmaha la baadhin, kala hadal bixiyahaaga daryeelka caafimaadka jadwalka baaritaanka sida ugu dhakhsaha badan.

Ma u baahanahay inaan sameeyo wax walba si aan ugu diyaargaroobo imtixaanka?

Uma baahnid wax diyaargarow ah oo gaar ah oo loogu talagalay baaritaanka isku-dhafka MTHFR.

Ma jiraan wax khatar ah oo imtaxaanku leeyahay?

Khatar aad u yar ayaa adiga ama cunuggaaga ugu jirta baaritaanka MTHFR. Waxaa laga yaabaa inaad xanuun yar ama nabar ku yeelato barta irbadda lagu muday, laakiin astaamaha badankood si dhakhso leh ayey u baxaan.

Ilmahaagu wuxuu dareemi karaa xoogaa yar oo qanjaruufo marka cidhibku xidhmayaan, oo nabar yar ayaa ka soo bixi kara goobta. Tani waa inay dhaqso u tagtaa.

Maxay natiijooyinka ka dhigan yihiin?

Natiijooyinkaaga ayaa tusi doona inaad ku wanaagsan tahay ama ku xun tahay isbeddellada MTHFR. Hadday fiicantahay, natiijadu waxay muujineysaa labada isbadal ee aad leedahay midkood, iyo inaad leedahay hal ama laba nuqul oo hiddo-wadaha isbeddelay. Haddii natiijooyinkaagu ahaayeen kuwo taban, laakiin aad leedahay heerar sare oo ah nooca 'homocysteine', bixiyaha daryeelka caafimaadkaaga ayaa laga yaabaa inuu dalbado baaritaanno dheeri ah si loo ogaado sababta.

Iyadoo aan loo eegin sababta loogu talagalay heerarka sare ee 'homocysteine', bixiyahaaga daryeelka caafimaad ayaa kugula talin kara inaad qaadato folic acid iyo / ama fiitamiin B kale, iyo / ama bedelida cuntadaada. Fiitamiinada B waxay kaa caawin karaan inaad heerarkaaga homocysteine-ku ay caadi ku soo celiyaan.

Haddii aad su'aalo ka qabtid natiijooyinkaaga, la hadal daryeel caafimaad bixiyahaaga.

Wax badan ka baro baaritaanka shaybaarka, kala duwanaanshaha tixraaca, iyo fahamka natiijooyinka.

Ma jiraan wax kale oo aan u baahanahay inaan ka ogaado baaritaanka ku-beddelashada MTHFR?

Qaar ka mid ah bixiyeyaasha daryeelka caafimaadka ayaa doorta inay kaliya tijaabiyaan heerarka 'homocysteine', halkii ay ka sameyn lahaayeen baaritaanka hidda-wadaha 'MTHFR'. Taasi waa sababta oo ah daaweyntu badanaa waa isku mid, haddii ama heerarka sare ee homocysteine ​​ay sababaan isbeddel.

Tixraacyo

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Macluumaadka ku yaal boggan waa in aan loo isticmaalin beddel daryeel caafimaad oo xirfad leh ama talo. La xiriir bixiye daryeel caafimaad haddii aad su'aalo ka qabtid caafimaadkaaga.