Munyori: Virginia Floyd
Zuva Rekusika: 9 Nyamavhuvhu 2021
Gadziridza Zuva: 18 Mbudzi 2024
Anonim
MTHFR Kuchinja Bvunzo - Mushonga
MTHFR Kuchinja Bvunzo - Mushonga

Zvemukati

Chii chinonzi MTHFR mutation test?

Iyi bvunzo inotarisa shanduko (shanduko) mune geni inonzi MTHFR. Magene ndiwo akakosha mayuniti enhaka akapfuudzwa kubva kuna mai nababa vako.

Wese munhu ane maviri maMTHFR majini, rimwe rakagara nhaka kubva kuna amai vako uye rimwe kubva kuna baba vako. Kuchinja kunogona kuitika mune rimwe kana maviri maMTHFR majini. Kune mhando dzakasiyana dzeMTHFR shanduko. Iyo MTHFR bvunzo inotarisa maviri eaya shanduko, inozivikanwawo semisiyano. MTHFR misiyano inonzi C677T uye A1298C.

Iyo MTHFR geni inobatsira muviri wako kuputsa chinhu chinonzi homocysteine. Homocysteine ​​rudzi rweamino acid, kemikari muviri wako unoshandisa kugadzira mapuroteni. Kazhinji, folic acid uye mamwe mavitamini B anoputsa homocysteine ​​uye anoichinja kuita zvimwe zvinhu zvinoda muviri wako. Panofanirwa kuve neakasara mashoma emosocysteine ​​akasara muropa.

Kana iwe uine MTHFR mutation, yako MTHFR geni haigone kushanda nemazvo. Izvi zvinogona kukonzera yakawandisa homocysteine ​​kuvaka muropa, zvichitungamira kumatambudziko akasiyana ehutano, kusanganisira:


  • Homocystinuria, chirwere chinokanganisa maziso, mapfundo, uye kugona kugona. Inowanzotanga muhudiki hwepakutanga.
  • Kuwedzera njodzi yehosha yemwoyo, sitiroko, kuwedzerwa kweropa, uye kugwamba kweropa

Mukuwedzera, vakadzi vane kuchinja kweMTHFR vane ngozi yakawanda yekuva nemwana nechimwe chezvikanganiso zvekuberekwa zvinotevera:

  • Spina bifida, inozivikanwa seiyo neural chubhu hurema. Aya ndiwo mamiriro ezvinhu ayo mapfupa emuzongoza asingavharike zvakaringana netambo yemusana.
  • Anencephaly, imwe mhando yeiyo neural chubhu hurema. Mune kusagadzikana uku, zvikamu zvehuropi uye / kana dehenya zvinogona kunge zvisipo kana kuremara.

Unogona kudzikisa huwandu hwako hwehomocysteine ​​nekutora folic acid kana mamwe mavitamini B Aya anogona kutorwa seanowedzera kana kuwedzerwa kuburikidza neshanduko yekudya. Kana iwe uchida kutora folic acid kana mamwe mavitamini B, wako wekuchengeta hutano anokurudzira kuti ndeipi sarudzo yakakunakira iwe.

Mamwe mazita: plasma yakazara homocysteine, methylenetetrahydrofolate reductase DNA mutation ongororo


Chii chinoshandiswa?

Bvunzo iyi inoshandiswa kutsvaga kana iwe uine imwe yemaviri MTHFR shanduko: C677T uye A1298C. Inowanzo shandiswa mushure meimwe bvunzo inoratidza kuti une yakakwira kupfuura yakajairwa homocysteine ​​mazinga muropa. Mamiriro ezvinhu senge yakakwira cholesterol, chirwere chetachiona, uye kushomeka kwekudya zvinogona zvakare kukwidziridza mwero wehomocysteine. Chiyero cheMTHFR chinosimbisa kana akakwidziridzwa mazinga ari kukonzerwa nekuchinja kwemajini.

Kunyangwe hazvo shanduko yeMTHFR inounza njodzi yakanyanya yekuremara kwekuberekwa, bvunzo hadziwanzo kukurudzirwa kune vakadzi vane nhumbu. Kutora folic acid inowedzera panguva yekuzvitakura kunogona kudzora zvakanyanya njodzi yeiyo neural chubhu yekuberekwa kuremara. Saka vakadzi vazhinji vane nhumbu vanokurudzirwa kutora folic acid, vangave kana vasina MTHFR mutation.

Nei ini ndichida MTHFR shanduko bvunzo?

Ungangoda bvunzo iyi kana:

  • Iwe waive nekuongororwa kweropa kwakaratidza kwakakwira kupfuura zvakajairika mazinga e homocysteine
  • Hama yepedyo yakaonekwa iine MTHFR mutation
  • Iwe uye / kana vepedyo nhengo dzemhuri mune nhoroondo yechirwere chemwoyo chisati chakurumidza kana kusagadzikana kweropa

Mwana wako mutsva anogonawo kuwana bvunzo yeMTHFR sechikamu chenguva dzose yekuongororwa kwevana vachangoberekwa. Kuzvarwa patsva kuongororwa kweropa kuri nyore kunoongorora zvirwere zvakasiyana siyana.


Chii chinoitika panguva yeMTHFR mutation test?

Nyanzvi yezvehutano inotora muyero weropa kubva mutsinga iri muruoko rwako, uchishandisa tsono diki. Mushure mekunge tsono yaiswa, kashoma reropa kanounganidzwa muthubhu yekuyedza kana muhombodo. Unogona kunzwa kakuruma kana tsono ichipinda kana kubuda. Izvi zvinowanzotora maminetsi asingasviki mashanu.

Zvekuzvarwa kwekuzvarwa, nyanzvi yehutano inochenesa chitsitsinho chemwana wako nedoro uye inobaya chitsitsinho nekatsono kadiki. Iye kana iye achatora madonhwe mashoma eropa uye oisa bhandeji pane saiti.

Kuedzwa kunowanzoitwa kana mwana aine 1 kusvika mazuva maviri ekuberekwa, kazhinji muchipatara kwaakaberekerwa. Kana mwana wako asina kuzvarwa muchipatara kana kana iwe wakabuda muchipatara mwana asati aongororwa, taura nemupi wako wezvehutano nezve kuronga kuronga kuongororwa nekukurumidza sezvazvinogona.

Ndichafanira here kuita chero chinhu kugadzirira bvunzo?

Iwe haudi chero akakosha ekugadzirira kweMTHFR mutation bvunzo.

Pane here njodzi kune bvunzo?

Pane njodzi shoma kwauri kana kumwana wako nekuongororwa kweMTHFR. Unogona kunge uine marwadzo mashoma kana kupwanya panzvimbo yakaiswa tsono, asi zviratidzo zvizhinji zvinokurumidza kupera.

Mwana wako anogona kunzwa chidiki pacheche kana chitsitsinho chaiswa, uye kupwanya kudiki kunogona kuumba panzvimbo iyi. Izvi zvinofanirwa kuenda nekukurumidza.

Zvinorevei mhedzisiro yacho?

Mhedzisiro yako icharatidza kuti iwe une chokwadi here kana kuti chisina chekuchinja kweMTHFR. Kana chiri chokwadi, mhedzisiro yacho inoratidza kuti ndedzipi pane mbiri idzi dzauinadzo, uye kana uine imwe kana maviri makopi ejeni rakachinja. Kana mhedzisiro yako yanga isina kunaka, asi iwe uine yakakwira homocysteine ​​mazinga, wako wekuchengeta hutano mupi anogona kuraira mimwe bvunzo kuti uwane chikonzero.

Pasinei nechikonzero cheyakakwira homocysteine ​​mazinga, wako wekuchengeta hutano anogona kukurudzira kuti utore folic acid uye / kana imwe vhitamini B inowedzera, uye / kana kuchinja chikafu chako. B mavitamini anogona kubatsira kuunza yako homocysteine ​​mazinga kumashure kune akajairwa.

Kana iwe uine mibvunzo nezve mhedzisiro yako, taura nemupi wako wezvehutano.

Dzidza zvakawanda nezve bvunzo dzemarabhoritari, mareferenzi masosi, uye mhinduro dzekunzwisisa

Pane chimwe chinhu here chandinofanira kuziva nezve MTHFR shanduko bvunzo?

Vamwe vatapi vezvehutano vanosarudza kungoedza zviyero zvehomocysteine, pane kuita MTHFR gene bvunzo. Izvi zvinodaro nekuti kurapwa kunowanzo fanika, kungave kana kwete kwakakwira homocysteine ​​mazinga ari kukonzerwa neshanduko.

Zvinyorwa

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  2. Huemer M, Kožich V, Rinaldo P, Baumgartner MR, Merinero B, Pasquini E, Ribes A, Blom HJ. Kuzvarwa patsva kuongororwa kwehomocystinurias uye kusagadzikana kwemethylation: kuongorora kwakarongeka uye nhungamiro dzakarongedzwa. J Inherit Metab Dis [Internet]. 2015 Nov [yataurwa 2018 Aug 18]; 38 (6): 1007–1019. Inowanikwa kubva: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4626539
  3. Vana Hutano kubva kuNemours [Internet]. Nemours Foundation; c1995–2018. Achangozvarwa Kuongorora Kuedza; [yakataurwa 2018 Aug 18]; [angangoita matatu skrini. Inowanikwa kubva ku: https://kidshealth.org/en/parents/newborn-screening-tests.html?ref=search&WT.ac=msh-p-dtop-en-search-clk
  4. Lab Kuedza Pamhepo [Internet]. Washington DC: American Association yeKiriniki Chemistry; c2001–2018. Homocysteine; [yakagadziridzwa 2018 Mar 15; yakataurwa 2018 Aug 18]; [angangoita maviri skrini. Inowanikwa kubva: https://labtestsonline.org/tests/homocysteine
  5. Lab Kuedza Pamhepo [Internet]. Washington D.C .; American Association yeKiriniki Chemistry; c2001–2018. MTHFR Kuchinja; [yakagadziridzwa 2017 Nov 5; yakataurwa 2018 Aug 18]; [angangoita maviri skrini. Inowanikwa kubva: https://labtestsonline.org/tests/mthfr-mutation
  6. Kurume weDimes [Internet]. Mapani akachena (NY): Kurume weDimes; c2018. Achangozvarwa Kuongorora Kuedza Kwemwana Wako; [yakataurwa 2018 Aug 18]; [angangoita matatu skrini. Inowanikwa kubva: https://www.marchofdimes.org/baby/newborn-screening-tests-for-your-baby.aspx
  7. Mayo Clinic: Mayo Medical Laboratories [Internet]. Mayo Foundation Yekurapa Dzidzo uye Tsvagiridzo; c1995–2018. Bvunzo ID: MTHFR: 5,10-Methylenetetrahydrofolate Reductase C677T, Kuchinja, Ropa: Kliniki uye Dudziro; [yakataurwa 2018 Aug 18]; [angangoita mana skrini. Inowanikwa kubva: https://www.mayomedicallaboratories.com/test-catalog/Clinical+and+Interpretive/81648
  8. Merck Chinyorwa Chevatengi Vhezheni [Internet]. Kenilworth (NJ): Merck & Co Inc. .; c2018. Homocystinuria; [yakataurwa 2018 Aug 18]; [angangoita maviri skrini. Inowanikwa kubva: https://www.merckmanuals.com/home/children-s-health-issues/hereditary-metabolic-disorders/homocystinuria
  9. National Cancer Institute [Internet]. Bethesda (MD): Dhipatimendi reUtano reU.S. NCI Duramazwi reMitemo yeCancer: geni; [yakataurwa 2018 Aug 18]; [angangoita matatu skrini. Inowanikwa kubva ku: https://www.cancer.gov/publications/dictionaries/cancer-terms/search?contains=false&q=gene
  10. National Center Yekufambira Mberi Shandurudzo Sayenzi: Genetic uye Rare Zvirwere Ruzivo Ruzivo [Internet]. Gaithersburg (MD): Dhipatimendi reUtano reU.S. Homocystinuria nekuda kwekushomeka kweMTHFR; [yakataurwa 2018 Aug 18]; [angangoita maviri skrini. Inowanikwa kubva ku: https://rarediseases.info.nih.gov/diseases/2734/homocystinuria-due-to-mthfr-deficiency
  11. National Center Yekufambira Mberi Shandurudzo Sayenzi: Genetic uye Rare Zvirwere Ruzivo Ruzivo [Internet]. Gaithersburg (MD): Dhipatimendi reUtano reU.S. MTHFR geni rakasiyana; [yakataurwa 2018 Aug 18]; [angangoita maviri skrini. Inowanikwa kubva: https://rarediseases.info.nih.gov/diseases/10953/mthfr-gene-mutation
  12. NIH U.S. National Raibhurari yeMishonga: Genetics Kumba Referensi [Internet]. Bethesda (MD): Dhipatimendi reUtano reU.S. MTHFR geni; 2018 Aug 14 [yataurwa 2018 Aug 18]; [angangoita matatu skrini. Inowanikwa kubva: https://ghr.nlm.nih.gov/gene/MTHFR
  13. NIH U.S. National Raibhurari yeMishonga: Genetics Kumba Referensi [Internet]. Bethesda (MD): Dhipatimendi reUtano reU.S. Chii chinonzi gene mutation uye shanduko dzinoitika sei ?; 2018 Aug 14 [yataurwa 2018 Aug 18]; [angangoita matatu skrini. Inowanikwa kubva: https://ghr.nlm.nih.gov/primer/mutationsanddisorders/genemutation
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Ruzivo ruri pane ino saiti harufanire kushandiswa sekutsiva kwehunyanzvi kurapwa kana kurairwa. Bata mupi wehutano kana iwe uine mibvunzo nezve hutano hwako.

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