Gwajin Mutuwa na MTHFR

Wadatacce

• Menene gwajin maye gurbin MTHFR?
• Me ake amfani da shi?
• Me yasa nake buƙatar gwajin maye gurbin MTHFR?
• Menene ya faru yayin gwajin maye gurbin MTHFR?
• Shin zan bukaci yin komai don shirya wa gwajin?
• Shin akwai haɗari ga gwajin?
• Menene sakamakon yake nufi?
• Shin akwai wani abin da nake buƙatar sani game da gwajin maye gurbin MTHFR?
• Bayani

Menene gwajin maye gurbin MTHFR?

Wannan gwajin yana neman maye gurbi (canje-canje) a cikin kwayar halittar da ake kira MTHFR. Kwayar halitta sune asalin asalin gadon da mahaifinka da mahaifinka suka mallaka.

Kowa yana da kwayar halittar MTHFR guda biyu, daya gaji daga uwarka daya kuma daga mahaifinka. Maye gurbi na iya faruwa a ɗayan ko duka kwayoyin MTHFR. Akwai nau'ikan maye gurbi na MTHFR. Gwajin MTHFR yana neman biyu daga cikin waɗannan maye gurbi, wanda aka sani da bambancin. Ana kiran nau'ikan MTHFR C677T da A1298C.

Kwayar halittar MTHFR tana taimakawa jikinka ya farfasa wani abu da ake kira homocysteine. Homocysteine ​​wani nau'in amino acid ne, wani sinadari da jikinka ke amfani dashi don yin sunadarai. A yadda aka saba, folic acid da sauran bitamin na B suna farfasa homocysteine ​​kuma suna canza shi zuwa wasu abubuwan da jikinku yake buƙata. A lokacin ya kamata a zama ɗan ƙaramin homocysteine ​​a cikin jini.

Idan kana da maye gurbi na MTHFR, kwayar MTHFR dinka bazai yi aiki daidai ba. Wannan na iya haifar da yawan homocysteine ​​a cikin jini, wanda ke haifar da matsalolin lafiya daban-daban, gami da:

• Homocystinuria, cuta ce da ke shafar idanu, haɗin gwiwa, da ƙwarewar fahimta. Yawanci yakan fara ne tun yarinta.
• Riskarin haɗarin cututtukan zuciya, bugun jini, hawan jini, da toshewar jini

Bugu da kari, mata masu rikida MTHFR suna da haɗarin samun ɗa mai ɗauke da ɗayan lahani na haihuwa masu zuwa:

• Spina bifida, wanda aka sani da nakasar bututu. Wannan yanayin ne wanda kasusuwa na kashin baya baya rufewa kusa da layin baya.
• Anencephaly, wani nau'in nakasa bututu. A wannan rikicewar, ɓangarorin kwakwalwa da / ko kwanyar na iya ɓacewa ko tawaya.

Kuna iya rage matakan homocysteine ​​ta hanyar shan folic acid ko wasu bitamin B Waɗannan ana iya ɗauka azaman kari ko ƙara su ta sauyin abincin. Idan kuna buƙatar shan folic acid ko wasu bitamin na B, mai ba ku kiwon lafiya zai ba da shawarar wane zaɓi ne ya fi muku.

Sauran sunaye: plasma duka homocysteine, methylenetetrahydrofolate reductase DNA maye gurbi bincike

Me ake amfani da shi?

Ana amfani da wannan gwajin don gano ko kuna da ɗayan maye gurbi biyu na MTHFR: C677T da A1298C. Ana amfani dashi sau da yawa bayan wasu gwaje-gwaje sun nuna cewa kuna da sama da matakan homocysteine ​​na al'ada a cikin jini. Yanayi kamar su babban cholesterol, cututtukan thyroid, da rashi abinci na iya ɗaga matakan homocysteine. Gwajin MTHFR zai tabbatar da cewa matakan da aka ɗauka sanadiyar maye gurbi ne ya haifar da su.

Kodayake maye gurbi na MTHFR yana haifar da haɗarin lahani na haihuwa, yawanci ba a ba da shawarar gwajin ga mata masu ciki. Shan abubuwan folic acid a yayin daukar ciki na iya rage barazanar nakasar haihuwa ta hanji. Don haka yawancin mata masu juna biyu ana kwadaitar da su shan folic acid, ko suna da maye gurbi na MTHFR.

Me yasa nake buƙatar gwajin maye gurbin MTHFR?

Kuna iya buƙatar wannan gwajin idan:

• Kuna da gwajin jini wanda ya nuna sama da matakan al'ada na homocysteine
• An gano wani dangi na kusa da maye gurbin MTHFR
• Ku da / ko danginku na kusa kuna da tarihin rashin cututtukan zuciya da wuri ko rikicewar jijiyoyin jini

Hakanan sabon jaririn ku na iya samun gwajin MTHFR a matsayin ɓangare na aikin duba jariri na yau da kullun. Binciken sabon haihuwa shine gwajin jini mai sauƙi wanda ke bincika nau'ikan cututtuka masu tsanani.

Menene ya faru yayin gwajin maye gurbin MTHFR?

Kwararren masanin kiwon lafiya zai dauki samfurin jini daga jijiyar hannunka, ta amfani da karamin allura. Bayan an saka allurar, za a tara karamin jini a cikin bututun gwaji ko kwalba. Kuna iya jin ɗan kaɗan lokacin da allurar ta shiga ko fita. Wannan yawanci yakan dauki kasa da minti biyar.

Don gwajin haihuwa, ƙwararren masanin kiwon lafiya zai tsabtace diddige jaririnku tare da barasa da kuma nuna diddige tare da ƙaramin allura. Shi ko ita za su tattara ɗan digo na jini su sa bandeji a kan wurin.

Ana yin gwaji mafi yawa yayin da jariri ya cika kwana 1 zuwa 2, galibi a asibitin da aka haife shi. Idan ba a haifi jaririn a asibiti ba ko kuma idan ka bar asibiti kafin a gwada jaririn, yi magana da mai ba ka kiwon lafiya game da tsara jarabawa da wuri-wuri.

Shin zan bukaci yin komai don shirya wa gwajin?

Ba kwa buƙatar kowane shiri na musamman don gwajin maye gurbin MTHFR.

Shin akwai haɗari ga gwajin?

Akwai ƙananan haɗari a gare ku ko jaririn ku tare da gwajin MTHFR. Kuna iya samun ɗan ciwo ko rauni a wurin da aka sanya allurar, amma yawancin alamun suna tafi da sauri.

Yarinyarki na iya jin ɗan tsunki idan an dusar da diddige, kuma karamin rauni na iya tashi a wurin. Wannan ya kamata ya tafi da sauri.

Menene sakamakon yake nufi?

Sakamakonku zai nuna ko kuna da tabbaci ko marasa kyau don maye gurbin MTHFR. Idan tabbatacce ne, sakamakon zai nuna wanne ne daga maye gurbi biyu da kake dashi, kuma ko kana da kwafi daya ko biyu na kwayar halittar da ta sauya. Idan sakamakonka ya kasance mara kyau, amma kana da matakan homocysteine ​​masu yawa, mai ba da kula da lafiyar ka na iya yin odar ƙarin gwaje-gwaje don gano dalilin.

Ba tare da dalili na yawan matakan homocysteine ​​ba, mai ba da sabis na kiwon lafiya na iya bayar da shawarar shan folic acid da / ko wasu abubuwan karin bitamin B, da / ko canza abincinku. B bitamin na iya taimakawa wajen dawo da matakan homocysteine ​​ɗinku zuwa al'ada.

Idan kuna da tambayoyi game da sakamakonku, yi magana da mai ba ku kiwon lafiya.

Learnara koyo game da gwaje-gwajen gwaje-gwaje, jeri na tunani, da fahimtar sakamako.

Shin akwai wani abin da nake buƙatar sani game da gwajin maye gurbin MTHFR?

Wasu masu ba da sabis na kiwon lafiya sun zaɓi yin gwaji kawai don matakan homocysteine, maimakon yin gwajin MTHFR. Wancan ne saboda magani sau da yawa iri ɗaya ne, ko yawan matakan homocysteine ​​yana faruwa ne ta hanyar maye gurbi.

Bayani

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2. Huemer M, Kožich V, Rinaldo P, Baumgartner MR, Merinero B, Pasquini E, Ribes A, Blom HJ. Binciken jariri don homocystinurias da rikicewar methylation: nazari na yau da kullun da jagororin da aka tsara. J Maganar Metab Dis [Intanit]. 2015 Nuwamba [wanda aka ambata 2018 Aug 18]; 38 (6): 1007–1019. Akwai daga: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4626539
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4. Gwaje-gwajen Lab a kan layi [Intanet]. Washington DC: Associationungiyar (asar Amirka don Nazarin Kimiyyar Clinical; c2001–2018. Homocysteine; [sabunta 2018 Mar 15; da aka ambata 2018 Aug 18]; [game da allo 2]. Akwai daga: https://labtestsonline.org/tests/homocysteine
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6. Maris na Dimes [Intanet]. Filayen Filaye (NY): Maris na Dimes; c2018. Gwajin Gwanin Jariri Ga Jariri; [wanda aka ambata 2018 Aug 18]; [game da fuska 3]. Akwai daga: https://www.marchofdimes.org/baby/newborn-screening-tests-for-your-baby.aspx
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8. Shafin Kasuwancin Merck Manual [Internet]. Kenilworth (NJ): Kamfanin Merck & Co. Inc.; c2018. Homocystinuria; [wanda aka ambata 2018 Aug 18]; [game da allo 2]. Akwai daga: https://www.merckmanuals.com/home/children-s-health-issues/hereditary-metabolic-disorders/homocystinuria
9. Cibiyar Cancer ta Kasa [Intanet]. Bethesda (MD): Ma'aikatar Kiwon Lafiya ta Amurka da Ayyukan Dan Adam; NCI Dictionary of Cancer Sharuddan: gene; [wanda aka ambata 2018 Aug 18]; [game da fuska 3]. Akwai daga: https://www.cancer.gov/publications/dictionaries/cancer-terms/search?contains=false&q=gene
10. Cibiyar Kasa don Inganta Kimiyyar Fassara: Cibiyar Bayar da Cututtuka Game da Halitta da Rare [Intanet]. Gaithersburg (MD): Ma'aikatar Kiwon Lafiya ta Amurka da Ayyukan Dan Adam; Homocystinuria saboda rashi MTHFR; [wanda aka ambata 2018 Aug 18]; [game da allo 2]. Akwai daga: https://rarediseases.info.nih.gov/diseases/2734/homocystinuria-due-to-mthfr-deficiency
11. Cibiyar Kasa don Inganta Kimiyyar Fassara: Cibiyar Bayar da Cututtuka Game da Halitta da Rare [Intanet]. Gaithersburg (MD): Ma'aikatar Kiwon Lafiya ta Amurka da Ayyukan Dan Adam; Bambancin jinsin MTHFR; [wanda aka ambata 2018 Aug 18]; [game da allo 2]. Akwai daga: https://rarediseases.info.nih.gov/diseases/10953/mthfr-gene-mutation
12. NIH US National Library of Medicine: Nasihu na Gidajen Gida [Intanet]. Bethesda (MD): Ma'aikatar Kiwon Lafiya ta Amurka da Ayyukan Dan Adam; Kwayar MTHFR; 2018 Aug 14 [wanda aka ambata 2018 Aug 18]; [game da fuska 3]. Akwai daga: https://ghr.nlm.nih.gov/gene/MTHFR
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Ba za a yi amfani da bayanan da ke wannan rukunin yanar gizon a madadin madadin ƙwararrun likitocin ko shawara ba. Tuntuɓi mai ba da kiwon lafiya idan kuna da tambayoyi game da lafiyarku.