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He aha te whakamatautau mutation MTHFR?

Ko tenei whakamatautau e rapu ana i nga whakarereketanga (whakarereke) i roto i te ira e kiia nei ko MTHFR. Ko te ira te waahanga taketake o te whakapapa i heke iho mai i to whaea me to papa.

E rua nga ira MTHFR o te katoa, kotahi te mea tuku iho mai i to whaea me tetahi mai i to papa. Ka puta he rereketanga i roto i nga momo MTHFR e rua ranei. He rereke nga momo rereke o te MTHFR. Ko te whakamatautau MTHFR e rapu ana mo enei whakarereketanga e rua, e mohiotia ana ko nga momo rereke. Ko nga momo MTHFR ka kiia ko C677T me A1298C.

Ko te ira MTHFR e awhina i to tinana ki te wawahi i tetahi taonga e kiia ana ko te homocysteine. Ko te Homocysteine ​​he momo waikawa amino, he matū e whakamahia ana e to tinana hei hanga pūmua. Te tikanga, ko te waikawa folic me etahi atu huaora B ka pakaru i te homocysteine ​​ka huri ki etahi atu matū e hiahiatia ana e to tinana. Na kia iti rawa te homocysteine ​​e toe ana ki nga toto.

Mena he rereketanga o to MTHFR, kaore pea e pai te haere o to ira MTHFR. Ma tenei ka nui rawa te homocysteine ​​ki te whakaheke i te toto, ka pa ki nga momo mate hauora, tae atu ki:


  • Homocystinuria, he mate e pa ana ki nga karu, hononga, me nga pukenga hinengaro. Te tikanga ka tiimata i te wa o te kohungahunga.
  • He nui ake te morearea o te mate ngakau, te whiu, te toto toto tiketike, me te whakaheke toto

Hei taapiri, ko nga waahine me nga whakarereke MTHFR he nui ake te tuponotanga ka whanau mai tetahi peepi e whai ake nei:

  • Spina bifida, e mohiotia ana ko te ngoikoretanga o te ngongo neural. He ahuatanga tenei kaore nga wheua o te tuaiwi i te kati rawa huri noa i te tuaiwi.
  • Ko Anencephaly, tetahi atu momo koretake ngongo neural. I roto i tenei mate, kei te ngaro, kua ngoikore ranei etahi waahanga o te roro me te / angaanga ranei.

Ka taea e koe te whakaheke i o taumata homocysteine ​​ma te tango i te waikawa folic me etahi atu huaora B Ka taea enei hei tango taapiri, hei taapiri ranei ma te panoni kai. Mena ka hiahia koe ki te kai waikawa folic me etahi atu huaora B, ka taunaki to kaiwhakarato hauora ko tehea te waahanga pai maau.

Ko etahi ingoa: ko te homocysteine ​​plasma katoa, ko te methylenetetrahydrofolate te whakaiti i te wetewete DNA


Hei aha te whakamahi?

Ka whakamahia tenei whakamatautau kia mohio ai koe kei roto koe i tetahi o nga whakarereketanga MTHFR e rua: C677T me A1298C. He maha nga wa ka whakamahia i muri i etahi atu whakamatautau ka whakaatu he teitei ake koe i te nuinga o nga taumata homocysteine ​​i roto i te toto. Ko nga ahuatanga penei i te nui o te cholesterol, te mate tiroid, me te ngoikoretanga o te kai ka taea hoki te piki ake i te taumata homocysteine. Ma te whakamatau a te MTHFR e whakatuturu mena ka piki ake nga taumata na te rereketanga o te ira.

Ahakoa he nui ake te raru o te whanautanga o te MTHFR o te whanautanga o te whanautanga, kaore i te nuinga o te wa ka whakatauhia te whakamatautau mo nga wahine hapu. Ko te tango i nga taapiringa waikawa folic i te wa e hapu ana ka taea te whakaiti i te raru o nga ngoikoretanga whanau ngongo taiao Na ko te nuinga o nga wa hapu e akiaki ana ki te kai waikawa folic, mena he rereketanga o te MTHFR kaore ranei.

He aha i hiahiatia ai e ahau he whakamatautau mutation MTHFR?

Akene ka hiahiatia e koe tenei whakamatautau mena:

  • He whakamatautau toto koe i whakaatu i teitei ake i te taumata noa o te homocysteine
  • I kitea te whanaunga tata he panoni a te MTHFR
  • Ko koe me / te mema ranei o te whanau tata te hitori o te mate maoro o te manawa, o te mate toto ranei

Ka whiwhi pea to tamaiti hou i te whakamatautau MTHFR hei waahanga tirotiro tamariki hou. Ko te tirotirohanga whanau hou he whakamatautau toto ngawari e tirotiro ana mo nga momo mate kino.


Ka ahatia i te wa o te whakamatautau mutation MTHFR?

Ka tangohia e tetahi tohunga ngaio hauora tetahi tauira toto mai i te uaua i roto i to ringa, ma te whakamahi i te ngira iti. Whai muri i te kuhunga o te ngira, ka kohia he toto iti ki roto i te ipuipu, ipu ranei. Akene he iti to ngau ka puta te ngira ki waho ka puta atu ranei. Ko te tikanga ka iti ake i te rima meneti tenei.

Mo te tirotiro whanau, ma tetahi tohunga ngaio hauora e horoi to rekereke o to peepi ki te waipiro ka werohia te rekereke me te ngira iti. Ka kohia e ia etahi pata toto ka taatai ​​i te papaanga.

Ka nui te whakamatautauranga i te wa e 1 ki te 2 nga ra o te peepi, i te nuinga o te waa i te hohipera i whanau ai ia. Mena kaore i whanau mai to peepi i te hohipera mena kua wehe atu ranei koe i te hohipera i mua i te whakamatautauranga o te peepi, korero atu ki to kaiwhakarato hauora mo te whakariterite i nga whakamatautau wawe tonu

Me mahi e au tetahi mea hei whakareri mo te whakamatautau?

Kaore koe e hiahia i etahi whakaritenga motuhake mo te whakamatautau hurihanga MTHFR.

He raru pea mo te whakamatautau?

He iti noa te tuponotanga ki a koe ko to peepi ranei me te whakamatautau i te MTHFR. Ka mamae pea koe, ka maru ranei koe i te waahi i maka ai te ngira, engari ko te nuinga o nga tohu ka tere wawe.

Akene he iti noa te piro o to peepi ina werohia te rekereke, ana ka maru te pura i te papaanga. Kia tere te haere o tenei.

He aha te tikanga o nga hua?

Ma o hua ka whakaatu he pai koe, he kino ranei mo te rereketanga o te MTHFR. Mena he pai, ko te hua ka puta ko tehea o nga rereketanga e rua kei a koe, ana mena kei te kotahi, e rua ranei nga kape o te ira kua whakarerekehia. Mena he kino nga hua, engari he nui ou taumata homocysteine, ka tono pea to kaiwhakarato hauora kia nui ake nga whakamatautau kia kitea he aha te take.

Ahakoa te take mo te nui o te taumata homocysteine, ka taunaki pea to kaiwhakarato hauora ki te tango i te waikawa folic me / me etahi atu taapiringa huaora B, me / te huri ranei i to kai. Ka taea e nga huaora B te awhina ki te whakahoki mai i o taumata homocysteine ​​ki te tikanga.

Mena he paatai ​​taau mo o hua, korero ki to kaiwhakarato hauora.

Ako atu mo nga whakamatautau taiwhanga, awhe tohutoro, me te maarama ki nga hua.

He mea ano e hiahia ana ahau kia mohio mo te whakamatautau mutation MTHFR?

Ko etahi o nga kaiwhakarato ratonga hauora ka kowhiri hei whakamatautau anake mo nga taumata homocysteine, kaua ki te mahi i te whakamatautau ira ira MTHFR. Ko te mea na te mea he rite tonu te maimoatanga, ahakoa ko te nui o te taumata homocysteine ​​kaore ranei i puta mai i te rereketanga.

Tohutoro

  1. Haumanu o Cleveland [Ipurangi]. Cleveland (OH): Te Haumanu o Cleveland; c2018. He Whakamatau Whakamatau Kaore E Tika; 2013 Sep 27 [cited 2018 Aug 18]; [e 4 pea nga mata]. Wātea mai i: https://health.clevelandclinic.org/a-genetic-test-you-dont-need
  2. Huemer M, Kožich V, Rinaldo P, Baumgartner MR, Merinero B, Pasquini E, Ribes A, Blom HJ. Te tirotiro hou mo nga homocystinurias me nga mate methylation: arotake taatai ​​me nga aratohu kua tohua. J Inherit Metab Dis [Ipurangi]. 2015 Nov [whakahuahia i te 2018 Akuhata 18]; 38 (6): 1007-1019. Wātea mai i: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4626539
  3. Hauora Tamariki mai i Nemours [Ipurangi]. Te Nemours Foundation; c1995–2018. Nga Whakamatau Tirohanga Papa Hou; [cited 2018 Aug 18]; [tata ki te 3 nga mata]. Wātea mai i: https://kidshealth.org/en/father/newborn-screening-tests.html?ref=search&WT.ac=msh-p-dtop-en-search-clk
  4. Nga Whakamatautau Reipa Aipurangi [Ipurangi]. Washington D.C .: American Association mo te Haumanu Haumanu; c2001–2018. Homocysteine; [whakahoutia 2018 Maehe 15; whakahuahia 2018 Akuhata 18]; [tata ki te 2 nga mata]. Wātea mai i: https://labtestsonline.org/tests/homocysteine
  5. Nga Whakamatautau Reipa Aipurangi [Ipurangi]. Washington D.C.; American Association mo te Haumanu Haumanu; c2001–2018. Huringa MTHFR; [whakahoutia 2017 Nov 5; whakahuahia 2018 Akuhata 18]; [tata ki te 2 nga mata]. Wātea mai i: https://labtestsonline.org/tests/mthfr-mutation
  6. Poutu-te-rangi o Rima [Ipurangi]. Maania Maama (NY): Poutu-te-Rangi; c2018. Nga Whakamatau Matapihi Tamariki Hou Mo To Peepi; [cited 2018 Aug 18]; [tata ki te 3 nga mata]. Wātea mai i: https://www.marchofdimes.org/baby/newborn-screening-tests-for-your-baby.aspx
  7. Mayo Clinic: Mayo Medical Laboratories [Ipurangi]. Mayo Foundation mo te Whakaakoranga Hauora me te Rangahau; c1995–2018. ID Whakamatautau: MTHFR: 5,10-Methylenetetrahydrofolate Whakahekenga C677T, Whakakapi, Toto: Haumanu me te whakamaoritanga; [cited 2018 Aug 18]; [e 4 pea nga mata]. Wātea mai i: https://www.mayomedicallaboratories.com/test-catalog/Clinical+and+Interpretive/81648
  8. Merck Manual Kaihoko Putanga [Ipurangi]. Kenilworth (NJ): Merck & Co. Inc.; c2018. Homocystinuria; [cited 2018 Aug 18]; [tata ki te 2 nga mata]. Wātea mai i: https://www.merckmanuals.com/home/ Children-s-health-issues/hereditary-metabolic-disorder/homocystinuria
  9. National Cancer Institute [Ipurangi]. Bethesda (MD): Te Tari Hauora me nga Ratonga Tangata a U.S. NCI Papakupu mo nga Tikanga Mate Mate: ira; [cited 2018 Aug 18]; [tata ki te 3 nga mata]. Wātea mai i: https://www.cancer.gov/publications/dictionaries/cancer-terms/search?contains=false&q=gene
  10. National Center for Advancing Translational Science: Genetic and Rare Diseases Diseases Center [Ipurangi]. Gaithersburg (MD): U.S. Tari Hauora me te Ratonga Tangata; Homocystinuria na te ngoikoretanga o te MTHFR; [cited 2018 Aug 18]; [tata ki te 2 nga mata]. Wātea mai i: https://rarediseases.info.nih.gov/diseases/2734/homocystinuria-due-to-mthfr-deficiency
  11. National Center for Advancing Translational Science: Genetic and Rare Diseases Diseases Centre [Ipurangi]. Gaithersburg (MD): U.S. Tari Hauora me te Ratonga Tangata; MTHFR momo rereke; [cited 2018 Aug 18]; [tata ki te 2 nga mata]. Wātea mai i: https://rarediseases.info.nih.gov/diseases/10953/mthfr-gene-mutation
  12. NIH U.S. National Library of Medicine: Genetics Home Tohunga [Ipurangi]. Bethesda (MD): Te Tari Hauora me nga Ratonga Tangata a U.S. Ira MTHFR; 2018 Akuhata 14 [cited 2018 Aug 18]; [tata ki te 3 nga mata]. Wātea mai i: https://ghr.nlm.nih.gov/gene/MTHFR
  13. NIH U.S. National Library of Medicine: Genetics Home Tohunga [Ipurangi]. Bethesda (MD): Te Tari Hauora me nga Ratonga Tangata a U.S. He aha te hurihanga o te ira me te aha e puta ai nga rereketanga ?; 2018 Aug 14 [i whakahuahia i te 2018 Akuhata 18]; [tata ki te 3 nga mata]. Wātea mai i: https://ghr.nlm.nih.gov/primer/mutationsanddisorder/genemutation
  14. National Heart, Lung, and Blood Institute [Ipurangi]. Bethesda (MD): Te Tari Hauora me nga Ratonga Tangata a U.S. Nga Whakamatau Toto; [cited 2018 Aug 18]; [tata ki te 3 nga mata]. Wātea mai i: https://www.nhlbi.nih.gov/health-topics/blood-tests
  15. Quest Diagnostics [Ipurangi]. Diagnostics Uiui; c2000–2017. Pokapū Whakamatau: Methylenetetrahydrofolate Whakahekenga (MTHFR), Tohu Whakawhitinga DNA; [cited 2018 Aug 18]; [tata ki te 3 nga mata]. Wātea mai i: https://www.questdiagnostics.com/testcenter/TestDetail.action?ntc=17911&searchString=MTHFR
  16. Varga EA, Sturm AC, Misita CP, me Moll S. Homocysteine ​​me te MTHFR Whakawhitinga: Te hononga ki te Thrombosis me te Mate Mate Koronga. Porohita [Ipurangi]. 2005 Haratua 17 [cited 2018 Aug 18]; 111 (19): e289–93. Wātea mai i: https://www.ahajournals.org/doi/full/10.1161/01.CI

Ko nga korero kei tenei papaanga kaua e whakamahia hei whakakapi mo te tiaki ngaio ngaio, tohutohu ranei. Whakapa atu ki te kaiwhakarato hauora mena he paatai ​​taau mo to hauora.

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