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Teko ea phetoho ea MTHFR - Moriana
Teko ea phetoho ea MTHFR - Moriana

Litaba

Teko ea phetoho ea MTHFR ke eng?

Teko ena e sheba liphetoho tse bang teng liphatseng tsa lefutso tse bitsoang MTHFR. Liphatsa tsa lefutso ke likarolo tsa mantlha tsa lefutso tse fetisitsoeng ho tsoa ho mme le ntate oa hau.

E mong le e mong o na le liphatsa tsa lefutso tsa MTHFR tse peli, le leng le futsitsoe ho 'm'ao le le leng ho ntate oa hau. Liphetoho li ka hlaha ka mofuta o le mong kapa ka bobeli ba MTHFR. Hona le mefuta e fapaneng ea liphetoho tsa MTHFR. Teko ea MTHFR e sheba liphetoho tse peli ho tsena, tse tsejoang hape e le mefuta-futa. Mefuta e fapaneng ea MTHFR e bitsoa C677T le A1298C.

Mofuta oa MTHFR o thusa 'mele oa hau ho theola ntho e bitsoang homocysteine. Homocysteine ​​ke mofuta oa amino acid, k'hemik'hale eo 'mele oa hau o e sebelisang ho etsa liprotheine. Ka tloaelo, folic acid le livithamini tse ling tsa B li senya homocysteine ​​ebe li e fetola lintho tse ling tse hlokoang ke 'mele oa hau. Joale ho lokela hore ho be le homocysteine ​​e nyane haholo e setseng maling.

Haeba u na le phetoho ea MTHFR, mofuta oa hau oa MTHFR o kanna oa se sebetse hantle. Sena se ka baka homocysteine ​​e ngata haholo hore e hahe maling, e lebisang mathateng a fapaneng a bophelo bo botle, ho kenyeletsoa:


  • Homocystinuria, boloetse bo amang mahlo, manonyeletso le bokhoni ba ho tseba lintho. Hangata e qala bongoaneng.
  • Kotsi e eketsehileng ea lefu la pelo, stroke, khatello e phahameng ea mali le mali

Ho phaella moo, basali ba nang le liphetoho tsa MTHFR ba na le kotsing e kholo ea ho ba le lesea le nang le bokooa bo latelang ba tsoalo:

  • Spina bifida, e tsejoang e le phoso ea neural tube. Ena ke boemo boo masapo a mokokotlo a sa koaloeng ka botlalo mokokotlong.
  • Anencephaly, mofuta o mong oa phoso ea neural tube. Bothateng bona, likarolo tsa boko le / kapa lehata li ka ba sieo kapa tsa holofala.

O ka fokotsa maemo a hau a homocysteine ​​ka ho nka folic acid kapa livithamini tse ling tsa B Tsena li ka nkuoa e le litlatsetso kapa tsa eketsoa ka liphetoho tsa phepo. Haeba o hloka ho noa folic acid kapa livithamini tse ling tsa B, mofani oa tlhokomelo ea bophelo o tla u eletsa hore na ke khetho efe e u loketseng.

Mabitso a mang: plasma total homocysteine, methylenetetrahydrofolate reductase tlhahlobo ea phetoho ea DNA


E sebelisetsoa eng?

Teko ena e sebelisetsoa ho fumana hore na o na le e 'ngoe ea liphetoho tse peli tsa MTHFR: C677T le A1298C. Hangata e sebelisoa kamora hore liteko tse ling li bontše hore o na le maemo a phahameng ho feta a tloaelehileng a homocysteine ​​maling. Maemo a kang k'holeseterole e phahameng, lefu la qoqotho le ho haelloa ke lijo le tsona li ka phahamisa maemo a homocysteine. Teko ea MTHFR e tla netefatsa hore na maemo a phahamisitsoeng a bakoa ke phetoho ea lefutso.

Le hoja phetoho ea MTHFR e tlisa kotsi e kholo ea bofokoli ba tsoalo, hangata tlhahlobo ha e khothalletsoe bakeng sa bakhachane. Ho noa li-folic acid nakong ea bokhachane ho ka fokotsa menyetla ea ho holofala ha methapo ea methapo. Kahoo basali ba bangata ba bakhachane ba khothaletsoa ho noa folic acid, ebang ba na le phetoho ea MTHFR kapa che.

Hobaneng ha ke hloka teko ea phetoho ea MTHFR?

U kanna oa hloka teko ena haeba:

  • U bile le tlhahlobo ea mali e bonts'itseng li-homocysteine ​​tse phahameng ho feta tse tloaelehileng
  • Motsoalle ea haufi o ile a fumanoa a e-na le phetoho ea MTHFR
  • Uena le / kapa litho tse haufi tsa lelapa le na le nalane ea lefu la pelo pele ho nako kapa mathata a methapo ea mali

Lesea la hau le lecha le ka fumana tlhahlobo ea MTHFR e le karolo ea tlhahlobo ea lesea le sa tsoa tsoaloa. Ho hlahloba lesea le sa tsoa tsoaloa ke tlhahlobo e bonolo ea mali e lekolang mafu a tebileng a fapaneng.


Ho etsahala'ng nakong ea teko ea phetoho ea MTHFR?

Ngaka ea tlhokomelo ea bophelo e tla nka sampole ea mali mothapong o letsohong la hao, e sebelisa nale e nyane. Kamora hore nalete e kenngoe, ho tla bokelloa mali a manyane ka har'a pompo ea liteko. U ka ikutloa u hlaba hanyane ha nale e kena kapa e tsoa. Hangata hona ho nka nako e ka tlase ho metsotso e mehlano.

Bakeng sa tlhahlobo ea lesea le sa tsoa tsoaloa, setsebi sa tlhokomelo ea bophelo bo botle se tla hloekisa serethe sa ngoana oa hau ka joala ebe se phunya serethe ka nale e nyane. O tla bokella marotholi a 'maloa a mali ebe o beha bandage setšeng.

Hangata liteko li etsoa ha ngoana a le matsatsi a 1 ho isa ho a mabeli, hangata sepetlele moo a hlahetseng teng. Haeba lesea la hau le sa hlahela sepetlele kapa haeba u tsoile sepetlele pele lesea le ka hlahlojoa, buisana le mofani oa tlhokomelo ea bophelo mabapi le ho hlophisa liteko kapele kamoo ho ka khonehang.

Na ke tla hloka ho etsa eng kapa eng ho itokisetsa tlhahlobo?

Ha o hloke litokisetso tse khethehileng bakeng sa teko ea phetoho ea MTHFR.

Na ho na le likotsi tsa tlhahlobo?

Ho na le kotsi e nyane haholo ho uena kapa ho lesea la hau ka tlhahlobo ea MTHFR. U kanna oa ba le mahlaba a fokolang kapa ho longoa moo nale e kentsoeng teng, empa matšoao a mangata a fela kapele.

Lesea la hau le ka 'na la ikutloa le phunya hanyane ha serethe se ts'oaroa,' me ho ka hlaha leqeba le lenyane setšeng. Sena se lokela ho tloha kapele.

Liphetho li bolelang?

Liphetho tsa hau li tla bontša hore na u na le maikutlo a nepahetseng kapa a fosahetseng bakeng sa phetoho ea MTHFR. Haeba li le ntle, sephetho se tla bontša hore na ke efe ea liphetoho tse peli tseo u nang le tsona, le hore na u na le kopi e le 'ngoe kapa tse peli tsa lefutso le fetotsoeng. Haeba liphetho tsa hau li ne li le mpe, empa u na le maemo a phahameng a homocysteine, mofani oa hao oa tlhokomelo ea bophelo a ka laela liteko tse ling ho fumana sesosa.

Ho sa tsotelehe lebaka la maemo a phahameng a homocysteine, mofani oa hao oa tlhokomelo ea bophelo a ka khothaletsa ho nka folic acid le / kapa litlatsetso tse ling tsa vithamine B, le / kapa ho fetola tsela eo u jang ka eona. Li-vithamine tsa B li ka thusa ho khutlisetsa maemo a hau a homocysteine ​​maemong a tloaelehileng.

Haeba u na le lipotso mabapi le liphetho tsa hau, bua le mofani oa tlhokomelo ea bophelo.

Ithute haholoanyane ka liteko tsa laboratori, libaka tsa litšupiso, le liphetho tsa kutloisiso.

Na ho na le eng kapa eng eo ke hlokang ho e tseba ka teko ea phetoho ea MTHFR?

Bafani ba bang ba tlhokomelo ea bophelo ba khetha ho lekola feela maemo a homocysteine, ho fapana le ho etsa tlhahlobo ea liphatsa tsa lefutso ea MTHFR. Lebaka ke hore kalafo hangata e ea ts'oana, ebang maemo a phahameng a homocysteine ​​a bakoa ke phetoho.

Litšupiso

  1. Kliniki ea Cleveland [Inthanete]. Cleveland (OH): Kliniki ea Cleveland; c2018. Teko ea Liphatsa tsa lefutso eo u sa e hlokeng; 2013 Sep 27 [e bontšitsoeng 2018 Aug 18]; [hoo e ka bang li-skrini tse 4]. E fumaneha ho tsoa ho: 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. Tlhatlhobo e sa tsoa tsoaloa ea li-homocystinurias le mathata a methylation: tlhahlobo e hlophisitsoeng le litataiso tse reriloeng. J Inherit Metab Dis [Inthanete]. 2015 Nov [e qotsitsoeng ka 2018 Aug 18]; 38 (6): 1007-1019. E fumaneha ho tsoa ho: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4626539
  3. Bophelo ba Bana ho tsoa Nemours [Marang-rang]. Motheo oa Nemours; c1995–2018. Litlhahlobo tsa masea a sa tsoa tsoaloa; [e qotsitsoeng 2018 Aug 18]; [li-skrini tse ka bang 3]. E fumaneha ho tsoa ho: https://kidshealth.org/en/parents/newborn-screening-tests.html?ref=search&WT.ac=msh-p-dtop-en-search-clk
  4. Liteko tsa Lab Marang-rang [Inthaneteng]. Washington DC: Mokhatlo oa Amerika oa Clinical Chemistry; c2001–2018. Homocysteine; [e ntlafalitsoeng 2018 Mar 15; e qotsitsoeng 2018 Aug 18]; [li-skrini tse ka bang 2]. E fumaneha ho tsoa ho: https://labtestsonline.org/tests/homocysteine
  5. Liteko tsa Lab Marang-rang [Inthaneteng]. Washington DC; Mokhatlo oa Amerika oa Clinical Chemistry; c2001–2018. Phetoho ea MTHFR; [e ntlafalitsoeng 2017 Nov 5; e qotsitsoeng 2018 Aug 18]; [li-skrini tse ka bang 2]. E fumaneha ho tsoa ho: https://labtestsonline.org/tests/mthfr-mutation
  6. Tlhakubele ea Dimes [Marang-rang]. Lithota tse Tšoeu (NY): Hlakubele ea Dimes; c2018. Litlhahlobo tsa masea a sa tsoa hlaha tsa liteko tsa ngoana oa hau; [e qotsitsoeng 2018 Aug 18]; [li-skrini tse ka bang 3]. E fumaneha ho tsoa ho: https://www.marchofdimes.org/baby/newborn-screening-tests-for-your-baby.aspx
  7. Mayo Clinic: Mayo Medical Laboratories [Inthaneteng]. Motheo oa Mayo oa Thuto ea Bongaka le Patlisiso; c1995–2018. ID ea Teko: MTHFR: 5,10-Methylenetetrahydrofolate Reductase C677T, Phetoho ea mali, Mali: Kliniki le Tlhaloso; [e qotsitsoeng 2018 Aug 18]; [hoo e ka bang li-skrini tse 4]. E fumaneha ho tsoa ho: https://www.mayomedicallaboratories.com/test-catalog/Clinical+and+Interpretive/81648
  8. Phetolelo ea Merck Manual Consumer [Inthanete]. Kenilworth (NJ): Merck & Co Inc .; c2018. Homocystinuria; [e qotsitsoeng 2018 Aug 18]; [li-skrini tse ka bang 2]. E fumaneha ho tsoa ho: https://www.merckmanuals.com/home/children-s-health-issues/hereditary-metabolic-disorders/homocystinuria
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