Hōʻike Hoʻohuli MTHFR

Anter

• He aha ka hoʻokolohua hoʻololi MTHFR?
• No ke aha ia e hoʻohana ai?
• No ke aha e pono ai iaʻu kahi hōʻike MTHFR hoʻololi?
• He aha ka hana i ka wā o kahi hoʻokolohua hoʻololi MTHFR?
• Pono wau e hana i kekahi mea e hoʻomākaukau ai no ka hoʻāʻo?
• Aia kekahi mau pilikia i ka hoʻāʻo?
• He aha ke ʻano o nā hopena?
• Aia kekahi mea ʻē aʻe e pono iaʻu e ʻike e pili ana i kahi hoʻokolohua hoʻololi MTHFR?
• Nā kūmole

He aha ka hoʻokolohua hoʻololi MTHFR?

Nānā kēia hoʻāʻo no nā hoʻololi (hoʻololi) i kahi ʻāpana i kapa ʻia ʻo MTHFR. ʻO nā Genes nā ʻāpana maʻamau o ka hoʻoilina i hoʻoili ʻia mai kou makuahine a me kou makuakāne.

Loaʻa i kēlā me kēia kanaka ʻelua mau ʻāpana MTHFR, hoʻokahi hoʻoilina mai kou makuahine a hoʻokahi mai kou makuakāne. Hiki i nā loli ke hana i hoʻokahi a i ʻole i nā ʻelua MTHFR. Aia kekahi mau ʻano o ka hoʻololi MTHFR. Nānā kahi hoʻāʻo MTHFR i ʻelua o kēia mau hoʻololi, a ʻike ʻia hoʻi he ʻano ʻokoʻa. Kapa ʻia nā ʻano MTHFR me C677T a me A1298C.

Kōkua ka ʻāpana MTHFR i kou kino e wāwahi i kahi mea i kapa ʻia ʻo homocysteine. ʻO ka Homocysteine ​​kahi ʻano o ka amino acid, kahi kemika e hoʻohana ai kou kino e hana i nā protein. ʻO ka maʻamau, haki ka folic acid a me nā huaola B ʻē aʻe i ka homocysteine ​​a hoʻololi iā ia i nā mea ʻē aʻe i pono i kou kino. A laila e koe ka liʻiliʻi loa o ka homocysteine ​​i koe i ke kahe o ke koko.

Inā loaʻa iā ʻoe kahi hoʻololi MTHFR, ʻaʻole holo pono paha kāu moʻokūʻauhau MTHFR. ʻO kēia ke kumu o ka hoʻonui ʻia o ka homocysteine ​​i loko o ke koko, e alakaʻi ana i nā pilikia olakino like ʻole, me:

• ʻO Homocystinuria, kahi maʻi e hoʻopili i nā maka, nā hono, a me nā ʻike ʻike. Hoʻomaka ia i ka wā kamaliʻi.
• ʻO ka hoʻonui ʻia o nā maʻi puʻuwai, hahau, piʻi kiʻekiʻe o ke koko, a me nā kahe o ke koko

Eia kekahi, ʻoi aku ka nui o ka makaʻu o nā wahine me ka mutation MTHFR o ka loaʻa ʻana o kahi pēpē me kekahi o nā hemahema hānau aʻe:

• ʻO Spina bifida, i ʻike ʻia me kahi kīnā neural tube. He kūlana kēia e pili ʻole ai nā iwi o ka iwi kuamoʻo e pili kokoke i ka iwi kuamoʻo.
• ʻO Anencephaly, kekahi ʻano kīnā neural tube. I kēia maʻi, ʻāpana a hemahema paha nā ʻāpana o ka lolo a me / a poʻo ʻole.

Hiki iā ʻoe ke hōʻemi i kāu mau pae homocysteine ​​ma ka lawe ʻana i ka waikawa folic a i ʻole nā ​​huaola B ʻē aʻe hiki ke lawe ʻia i mea hoʻohui a hoʻohui ʻia ma o nā loli dietary. Inā pono ʻoe e lawe i ka waikawa folic a i ʻole nā ​​huaola B ʻē aʻe, e paipai kāu mea mālama ola i kahi koho kūpono loa nāu.

Nā inoa ʻē aʻe: plasma total homocysteine, methylenetetrahydrofolate reductase DNA mutation analysis

No ke aha ia e hoʻohana ai?

Hoʻohana ʻia kēia hōʻike e ʻike inā loaʻa iā ʻoe kekahi o ʻelua mau hoʻololi MTHFR: C677T a me A1298C. Hoʻohana pinepine ʻia ia ma hope o ka hōʻike ʻana o nā hoʻokolohua ʻē aʻe he ʻoi aku kou kiʻekiʻe ma mua o nā pae homocysteine ​​maʻamau i ke koko. ʻO nā kūlana e like me ke kiʻekiʻe o ke kōkō, ka maʻi thyroid, a me nā hemahema o ka papaʻai hiki ke hāpai i nā pae homocysteine. E hoʻokūpaʻa kahi hōʻike MTHFR inā paha nā kumu i hāpai ʻia e hoʻokumu ʻia e kahi hoʻololi kūlohelohe.

ʻOiai ʻo ka mutation MTHFR e lawe i kahi makaʻu kiʻekiʻe o nā hānau hānau, ʻaʻole hōʻike pinepine ʻia ka hōʻike no nā wahine hāpai. Lawe ka folic acid supplement i ka wā hāpai hiki ke hōʻemi nui i ka makaʻu o nā ʻōiwi neural hānau hānau. No laila e paipai ʻia ka hapa nui o nā wahine hāpai e lawe i ka waikawa folic, inā he mutation MTHFR paha lākou.

No ke aha e pono ai iaʻu kahi hōʻike MTHFR hoʻololi?

Pono ʻoe i kēia hōʻoia inā:

• Ua loaʻa iā ʻoe kahi hoʻokolohua koko e hōʻike i nā kiʻekiʻe ma mua o nā pae maʻamau o ka homocysteine
• Ua ʻike ʻia kekahi pili pili me ka mutation MTHFR
• ʻO ʻoe a me / a ʻohana paha o ka ʻohana pili i ka mōʻaukala o ka maʻi puʻuwai premature a i ʻole nā ​​maʻi o ke kīʻaha koko

E loaʻa paha i kāu pēpē hou kahi hōʻike MTHFR ma ke ʻano he mahele o ka loiloi hou hānau hānau. ʻO kahi kānana hānau hou kahi hōʻike koko maʻalahi e nānā ai no nā ʻano maʻi ʻino.

He aha ka hana i ka wā o kahi hoʻokolohua hoʻololi MTHFR?

E lawe kahi ʻoihana mālama ola i kahi laʻana koko mai kahi aa i kou lima, e hoʻohana ana i kahi nila kuʻikuʻi. Ma hope o ka hoʻokomo ʻia ʻana o ka nila, e hōʻiliʻili ʻia kahi koko liʻiliʻi i loko o kahi pahu hoʻāʻo a ipu paha. Hiki paha iā ʻoe ke ʻoni iki i ka wā e hele ai a kuʻi paha ka nila. Lōʻihi kēia ma mua o ʻelima mau minuke.

No kahi kānana hānau hou, e hoʻomaʻemaʻe kahi ʻoihana olakino i kou kuʻekuʻe wāwae o kāu pēpē me ka waiʻona a kuʻi i ka kuʻekuʻe wāwae me kahi nila liʻiliʻi. E hōʻiliʻili ʻo ia i kekahi mau kulu koko a kau i kahi kaula ma ka pūnaewele.

Hana pinepine ʻia ka hoʻāʻo ʻana inā he 1 a 2 mau lā ka pēpē, maʻamau i ka haukapila hānau ʻo ia. Inā ʻaʻole i hānau ʻia kāu pēpē i ka haukapila a inā ʻoe i haʻalele i ka haukapila ma mua o ka hoʻāʻo ʻana o ka pēpē, e kamaʻilio me kāu mea mālama ola e pili ana i ka hoʻonohonoho ʻana i ka hoʻokolohua ʻana i ka wā hiki loa.

Pono wau e hana i kekahi mea e hoʻomākaukau ai no ka hoʻāʻo?

ʻAʻole pono ʻoe i kahi hoʻomākaukau kūikawā no kahi hōʻike mutation MTHFR.

Aia kekahi mau pilikia i ka hoʻāʻo?

ʻAʻohe nui ka makaʻu iā ʻoe a i ʻole kāu pēpē me ka hoʻāʻo ʻana MTHFR. Loaʻa paha iā ʻoe ka ʻeha a ʻeha paha ma kahi o ka nila i hoʻokomo ʻia ai, akā ʻo ka hapa nui o nā ʻōuli e hele wikiwiki aku.

ʻIke paha kāu pēpē i kahi ʻuʻuku ke kuʻi ʻia ka kuʻekuʻe wāwae, a kū paha kahi ʻeha liʻiliʻi ma ka pūnaewele. E hele wikiwiki kēia.

He aha ke ʻano o nā hopena?

E hōʻike ana kāu mau hopena inā maikaʻi a maikaʻi ʻole paha ʻoe no ka hoʻololi MTHFR. Inā maikaʻi, e hōʻike ka hopena i kahi o nā hoʻololi ʻelua i loaʻa iā ʻoe, a inā he hoʻokahi a ʻelua paha kope o ka gen mutated. Inā maikaʻi ʻole kāu hopena, akā loaʻa iā ʻoe nā kiʻekiʻe homocysteine ​​kiʻekiʻe, kauoha paha kāu mea mālama ola i nā hoʻokolohua hou aku e ʻike i ke kumu.

Nānā ʻole i ke kumu o nā pae homocysteine ​​kiʻekiʻe, hiki i kāu kauka olakino ke koi aku i ka lawe ʻana i ka waikawa folic a me / a i ʻole nā ​​mea hoʻohui vitamin B ʻē aʻe, a / a i ʻole ka hoʻololi ʻana i kāu papaʻai. Hiki i nā wikamina B ke kōkua i ka hoʻihoʻi i kāu pae homocysteine ​​i ka maʻamau.

Inā he mau nīnau kāu e pili ana i kāu hopena, e kamaʻilio me kāu kauka olakino.

E aʻo hou aʻe e pili ana i nā hoʻokolohua hoʻokolohua, nā pae kuhikuhi, a me ka hoʻomaopopo ʻana i nā hopena.

Aia kekahi mea ʻē aʻe e pono iaʻu e ʻike e pili ana i kahi hoʻokolohua hoʻololi MTHFR?

Koho kekahi poʻe lawelawe olakino e hoʻāʻo wale no nā pae homocysteine, ma mua o ka hana ʻana i kahi hōʻike hōʻike MTHFR. ʻO ia no ka mea like pinepine ka mālama ʻana, no ka hopena a i ʻole kiʻekiʻe o nā pae homocysteine ​​kiʻekiʻe e kahi hoʻololi.

Nā kūmole

1. Ke Kalinika ʻo Cleveland [Pūnaewele]. Cleveland (OH): Ke Kula Nui ʻo Cleveland; c2018. ʻO kahi hōʻike genetic āu e pono ʻole ai; 2013 Sep 27 [helu ʻia 2018 ʻAuk 18]; [ma kahi o 4 pale]. Loaʻa mai: 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. ʻO ka loiloi hou no nā homocystinurias a me nā maʻi methylation: loiloi ʻōnaehana a me nā alakaʻi i hāpai ʻia. J Inherit Metab Dis [Pūnaewele]. 2015 Nov [helu ʻia 2018 ʻAuk 18]; 38 (6): 1007-1019. Loaʻa mai: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4626539
3. ʻO ke olakino kamaliʻi mai Nemours [Pūnaewele]. ʻO ka Foundation Nemours; c1995–2018. Nā Hōʻike ʻImi Hou Hou; [i helu ʻia 2018 ʻAukake 18]; [ma kahi o 3 pale]. Loaʻa mai: https://kidshealth.org/en/father/newborn-screening-tests.html?ref=search&WT.ac=msh-p-dtop-en-search-clk
4. Nā Hoʻokolohua Lab ma ka Pūnaewele [Pūnaewele]. Wakinekona D.C .: ʻAmelika Hui Pū ʻIa no ka Chemical Clinical; c2001–2018. Homocysteine; [hōʻano hou ʻia 2018 Mar 15; i helu ʻia 2018 Aug 18]; [ma kahi o 2 pale]. Loaʻa mai: https://labtestsonline.org/tests/homocysteine
5. Nā Hoʻokolohua Lab ma ka Pūnaewele [Pūnaewele]. Wakinekona D.C.; ʻAhahui ʻAmelika no ka Chemical Clinical; c2001–2018. MTHFR Hoʻololi; [hōʻano 2017 2017 5; i helu ʻia 2018 Aug 18]; [ma kahi o 2 pale]. Loaʻa mai: https://labtestsonline.org/tests/mthfr-mutation
6. Malaki o nā Dime [Pūnaewele]. White Plains (NY): Malaki o nā Dime; c2018. Nā hoʻāʻo loiloi hou no kāu pēpē; [i helu ʻia 2018 ʻAukake 18]; [ma kahi o 3 pale]. Loaʻa mai: https://www.marchofdimes.org/baby/newborn-screening-tests-for-your-baby.aspx
7. Kalinika Mayo: Laboratories Lapaʻau ʻo Mayo [Pūnaewele]. Mayo Foundation no ka Hoʻomaʻamaʻa Lapaʻau a me ka noiʻi; c1995–2018. Hōʻike Hōʻike: MTHFR: 5,10-Methylenetetrahydrofolate Reductase C677T, Hoʻololi, Koko: Clinical a Interpretive; [i helu ʻia 2018 ʻAukake 18]; [ma kahi o 4 pale]. Loaʻa mai: https://www.mayomedicallaboratories.com/test-catalog/Clinical+and+Interpretive/81648
8. Merck Manual Mea Kūʻai Manuahi [Pūnaewele]. Kenilworth (NJ): Merck & Co. Inc.; c2018. Homocystinuria; [i helu ʻia 2018 ʻAukake 18]; [ma kahi o 2 pale]. Loaʻa mai: https://www.merckmanuals.com/home/ Children-s-health-issues/hereditary-metabolic-disorder/homocystinuria
9. Ka Papa ʻInikena Kanaka Makahiki [Pūnaewele]. Bethesda (MD): Ke Keʻena ʻOihana Ola a me nā lawelawe kanaka; Papa Kuhikuhi NCI o nā ʻōlelo maʻi ʻaʻai: gen; [i helu ʻia 2018 ʻAukake 18]; [ma kahi o 3 pale]. Loaʻa mai: https://www.cancer.gov/publications/dictionaries/cancer-terms/search?contains=false&q=gene
10. National Center for Advending Translational Science: Genetic and Rare Diseases Information Center [Pūnaewele]. Gaithersburg (MD): Ke Keʻena ʻOihana Ola a me nā lawelawe kanaka; Homocystinuria ma muli o ka hemahema MTHFR; [i helu ʻia 2018 ʻAukake 18]; [ma kahi o 2 pale]. Loaʻa mai: https://rarediseases.info.nih.gov/diseases/2734/homocystinuria-due-to-mthfr-deficiency
11. National Center for Advancing Translations Science: Genetic and Rare Diseases Information Center [Pūnaewele]. Gaithersburg (MD): Ke Keʻena ʻOihana Ola a me nā lawelawe kanaka; ʻOkoʻa ʻokoʻa MTHFR; [i helu ʻia 2018 ʻAukake 18]; [ma kahi o 2 pale]. Loaʻa mai: https://rarediseases.info.nih.gov/diseases/10953/mthfr-gene-mutation
12. NIH U.S. National Library of Medicine: Genetics Home Reference [Pūnaewele]. Bethesda (MD): Ke Keʻena ʻOihana Ola a me nā lawelawe kanaka; ʻĀpana MTHFR; 2018 Aug 14 [i helu ʻia 2018 Aug 18]; [ma kahi o 3 pale]. Loaʻa mai: https://ghr.nlm.nih.gov/gene/MTHFR
13. NIH U.S. National Library of Medicine: Genetics Home Reference [Pūnaewele]. Bethesda (MD): Ke Keʻena ʻOihana Ola a me nā lawelawe kanaka; He aha ka hoʻololi ʻana o ka ʻaoʻao a pehea e hana ai nā hoʻololi?; 2018 Aug 14 [i helu ʻia 2018 Aug 18]; [ma kahi o 3 pale]. Loaʻa mai: https://ghr.nlm.nih.gov/primer/mutationsanddisorder/genemutation
14. National Heart, Lung, and Blood Institute [Pūnaewele]. Bethesda (MD): Ke Keʻena ʻOihana Ola a me nā lawelawe kanaka; Nā ho'āʻo koko; [i helu ʻia 2018 ʻAukake 18]; [ma kahi o 3 pale]. Loaʻa mai: https://www.nhlbi.nih.gov/health-topics/blood-tests
15. Quest Diagnostics [Pūnaewele]. ʻIkepili Diagnostics; c2000–2017. Hale Hōʻikeʻike: Methylenetetrahydrofolate Reductase (MTHFR), ʻIliuli DNA Mutation; [i helu ʻia 2018 ʻAukake 18]; [ma kahi o 3 pale]. Loaʻa mai: https://www.questdiagnostics.com/testcenter/TestDetail.action?ntc=17911&searchString=MTHFR
16. ʻO Varga EA, Sturm AC, Misita CP, a me Moll S. Homocysteine ​​a me MTHFR Mutations: pili i ka Thrombosis a me ka maʻi Coronaary Artery. Kaapuni [Pūnaewele]. 2005 Mei 17 [i helu ʻia 2018 Aug 18]; 111 (19): e289–93. Loaʻa mai: https://www.ahajournals.org/doi/full/10.1161/01.CI

ʻAʻole pono e hoʻohana i ka ʻike ma kēia pūnaewele i pani no ka mālama olakino ʻoihana a ʻōlelo aʻoaʻo paha. Kāhea aku i ka mea mālama ola inā he nīnau kāu e pili ana i kou olakino.