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Kev kuaj mob Phenylketonuria (PKU) - Tshuaj Kho Mob
Kev kuaj mob Phenylketonuria (PKU) - Tshuaj Kho Mob

Zoo Siab

PKU kev kuaj mob yog dab tsi?

Kev ntsuam xyuas PKU yog kuaj ntshav rau cov menyuam yug menyuam 24–72 teev tom qab yug. PKU sawv rau phenylketonuria, ib qho kev tsis sib haum xeeb uas tiv thaiv lub cev los ntawm kev rhuav tshem yam khoom tsis zoo hu ua phenylalanine (Phe). Phe yog ib feem ntawm cov protein uas muaj nyob hauv ntau cov zaub mov thiab hauv cov khoom qab zib hu ua aspartame.

Yog tias koj muaj PKU thiab noj cov zaub mov no, Phe yuav tsim kom muaj cov ntshav ntxiv. Kev kub siab ntawm Phe tuaj yeem cuam tshuam mus tas li ntawm cov leeg hlwb thiab lub hlwb, ua rau muaj ntau yam kev mob nkeeg. Cov no suav nrog qaug dab peg, teebmeem kev xav, thiab kev xiam oob khab loj.

PKU tshwm sim los ntawm kev hloov hauv noob caj noob, kev hloov pauv ntawm kev coj ua haujlwm ntawm ib txwm muaj nyob. Cov noob yog qhov tseem ceeb ntawm caj ces dhau los ntawm koj niam thiab koj txiv. Rau tus menyuam yaus kom tau txais qhov tsis sib haum xeeb, leej niam thiab leej txiv yuav tsum dhau mus hauv kev hloov pauv PKU gene.

Txawm hais tias PKU muaj tsawg, txhua tus menyuam yug tshiab hauv Tebchaws Meskas yuav tsum tau kuaj PKU.

  • Qhov ntsuas yog yooj yim, nrog rau txhua qhov tsis muaj kev phom sij rau kev noj qab haus huv. Tab sis nws tuaj yeem txuag tau tus menyuam los ntawm kev puas hlwb hauv lub neej thiab / lossis lwm yam teebmeem mob loj.
  • Yog tias PKU raug pom thaum ntxov, ua raws li kev tshwj xeeb, cov zaub mov muaj protein tsawg / ntshav tsawg tuaj yeem tiv thaiv cov teeb meem.
  • Muaj cov qauv tshwj xeeb-rau cov menyuam mos nrog PKU.
  • Cov neeg nrog PKU yuav tsum tau nyob ntawm cov protein / tsawg-Phe noj zaub mov kom tag lawv lub neej.

Lwm lub npe: PKU kuaj cov menyuam tshiab, xeem PKU


Nws siv rau dab tsi?

Kev sim PKU yog siv los ntsuas seb tus menyuam nyuam qhuav yug menyuam muaj ntshav ntau nyob rau hauv cov ntshav. Qhov no txhais tau tias tus menyuam muaj PKU, thiab ntau qhov kev kuaj yuav raug kuaj kom paub meej lossis txiav txim tawm qhov kev kuaj mob.

Vim li cas kuv tus menyuam thiaj li xav kuaj PKU?

Cov menyuam mos hauv tebchaws Meskas yuav tsum tau kuaj PKU. Kev sim PKU feem ntau yog qee ntu ntawm kev sim hu ua kev soj ntsuam me nyuam mos. Qee tus menyuam mos thiab menyuam yaus hnub nyoog loj dua yuav tsum tau kuaj yog tias lawv raug coj los ntawm lwm lub tebchaws, thiab / lossis yog lawv muaj cov tsos mob ntawm PKU, uas suav nrog:

  • Ncua kev loj hlob
  • Kev txawj ntse teeb meem
  • Ib tus ntxhiab tsw ntxhiab hauv kev ua pa, tawv nqaij, thiab / lossis tso zis
  • Txawv lub taub hau me me (microcephaly)

Dab tsi tshwm sim thaum kev tshuaj ntsuam PKU?

Tus kws saib xyuas kev noj qab haus huv yuav ntxuav koj tus menyuam pob taws nrog cawv thiab nchuav caj dab nrog rab koob me me. Tus kws khomob yuav khaws ob peb ncos ntshav thiab muab ntaub qhwv rau ntawm qhov chaw.

Qhov ntsuas yuav tsum tau ua tsis pub dhau 24 teev tom qab yug, kom ntseeg tau tias tus menyuam tau txais qee yam protein, xws li los ntawm leej niam mis lossis mis mos. Qhov no yuav pab kom paub meej tias qhov ua tiav tau raug. Tab sis kev ntsuas yuav tsum tau ua nyob nruab nrab ntawm 24-7 teev tom qab yug los tiv thaiv PKU cov teeb meem tshwm sim. Yog tias koj tus menyuam tsis tau yug hauv tsev khomob lossis yog koj tawm hauv tsev khomob ntxov, nco ntsoov nrog koj tus menyuam tus kws khomob tham txog sijhawm teem sijhawm kuaj PKU sai li sai tau.


Kuv puas yuav tau ua dab tsi los npaj kuv tus menyuam rau qhov kev kuaj?

Tsis muaj kev npaj tshwj xeeb xav tau rau kev sim PKU.

Puas muaj kev pheej hmoo rau kev kuaj?

Txoj kev pheej hmoo me me rau koj tus menyuam nrog siv rab koob ntsuas. Koj tus menyuam tuaj yeem hnov ​​me ntsis thaum lub pob taws los, thiab ua pob me me rau ntawm thaj chaw. Qhov no yuav tsum ploj mus sai heev.

Cov txiaj ntsig li cas?

Yog tias koj tus menyuam cov txiaj ntsig tsis tau zoo li qub, koj tus kws kho mob yuav xaj kuaj ntxiv kom paub meej lossis txiav txim siab txog PKU. Cov kev kuaj no yuav suav nrog kuaj ntshav ntau ntxiv thiab / lossis kuaj ntshav. Koj thiab koj tus menyuam kuj tseem yuav kuaj tau raws caj ces, vim tias PKU yog ib qho mob muaj mob.

Yog tias cov txiaj ntsig tau tsis tu ncua, tab sis kev ntsuas tau ua tiav tau sai dua 24 teev tom qab yug, koj tus menyuam yuav tsum tau rov kuaj dua thaum muaj 1 txog 2 asthiv.

Kawm paub ntau ntxiv txog cov kev sim hauv chaw soj ntsuam, cov chaw siv ntsuas, thiab nkag siab cov txiaj ntsig tau.

Puas muaj lwm yam ntxiv Kuv yuav tsum paub txog kev sim tshuaj PKU?

Yog tias koj tus menyuam raug kuaj mob nrog PKU, nws tuaj yeem haus cov mis uas tsis muaj Phe. Yog tias koj xav pub mis, tham nrog koj tus kws kho mob. Leej niam cov kua mis muaj Phe, tab sis koj tus menyuam yuav tuaj yeem muaj tsawg, ntxiv los ntawm Phe tus qauv dawb. Txawm li cas los xij, koj tus menyuam yuav xav noj cov zaub mov muaj protein tsawg rau lub neej. Kev noj haus PKU feem ntau txhais tau hais tias yuav tsum zam cov zaub mov muaj protein ntau xws li nqaij, ntses, qe, mis nyuj, txiv ntoo thiab taum. Hloov chaw, txoj kev noj haus zoo li no yuav suav nrog kev ua zaub mov, txhuv, txiv hmab txiv ntoo, hloov mis, thiab lwm yam khoom muaj tsawg lossis tsis muaj Phe.


Koj tus menyuam tus kws saib xyuas kev noj qab haus huv yuav qhia ib lossis ntau tus kws tshaj lij thiab lwm yam kev pabcuam los pab koj tswj koj tus menyuam txoj kev noj zaub mov kom zoo thiab ua kom koj tus menyuam muaj kev noj qab haus huv. Tseem muaj ntau yam khoom muaj pab rau cov hluas thiab cov laus nrog PKU. Yog tias koj muaj PKU, nrog koj tus kws kho mob tham txog txoj kev zoo tshaj plaws los saib xyuas koj kev noj haus thiab kev noj qab haus huv.

Ua tim khawv

  1. American Cev xeeb Tub Lub Koom Haum [Is Taws Nem]. Irving (TX): Lub Koom Haum Asmeskas Kev Xeeb Tub; c2018. Phenylketonuria (PKU); [kho tshiab 2017 Aug 5; hais 2018 Jul 18]; [txog 3 ntxaij]. Muaj los ntawm: http://americanpregnancy.org/birth-defects/phenylketonuria-pku
  2. Cov Me Nyuam PKU Network [Is Taws Nem]. Kev Sib Koom (CA): Cov Menyuam PKU Network; PKU Zaj Dab Neeg; [hais 2018 2018 18; [txog 2 ntxaij]. Muaj los ntawm: http://www.pkunetwork.org/Childrens_PKU_Network/What_is_PKU.html
  3. Lub Peb Hlis Dimes [Is Taws Nem]. Tiaj Dawb (NY): Lub Peb Hlis Ntuj Tim; c2018. PKU (Phenylketonuria) Hauv Koj Tus Menyuam; [hais 2018 2018 18; [txog 3 ntxaij]. Muaj los ntawm: https://www.marchofdimes.org/complications/phenylketonuria-in-your-baby.aspx
  4. Mayo Clinic [Internet]. Mayo Foundation for Medical Education thiab Tshawb Fawb; c1998–2018. Phenylketonuria (PKU): Kev kuaj mob thiab kho mob; 2018 Jan 27 [raug nplua 2018 Jul 18]; [txog 4 ntxaij]. Muaj los ntawm: https://www.mayoclinic.org/diseases-conditions/phenylketonuria/diagnosis-tojsiab/drc-20376308
  5. Mayo Clinic [Internet]. Mayo Foundation for Medical Education thiab Tshawb Fawb; c1998–2018. Phenylketonuria (PKU): Cov tsos mob thiab ua rau; 2018 Jan 27 [raug nplua 2018 Jul 18]; [txog 3 ntxaij]. Muaj los ntawm: https://www.mayoclinic.org/diseases-conditions/phenylketonuria/symnia-causes/syc-20376302
  6. Merck Los Ntawm Cov Neeg Siv Khoom Siv [Internet]. Kenilworth (NJ): Merck & Co. Inc .; c2018. Phenylketonuria (PKU); [hais 2018 2018 18; [txog 3 ntxaij]. Muaj los ntawm: https://www.merckmanuals.com/home/children-s- health-issues/hereditary-metabolic-disorders/phenylketonuria-pku
  7. National Cancer Institute [Internet]. Bethesda (MD): Asmeskas Lub Chaw Haujlwm Saib Xyuas Kev Noj Qab Haus Huv thiab Tib Neeg; NCI Lus Txhais ntawm Cancer Cov Lus Cog Tseg: noob; [hais 2018 2018 18; [txog 3 ntxaij]. Muaj los ntawm: https://www.cancer.gov/publications/dictionaries/cancer-terms/search?contains=false&q=gene
  8. National PKU Alliance [Is Taws Nem]. Eau Claire (WI): Lub Tebchaws PKU Kev Koom Tes. c2017. Txog PKU; [hais 2018 2018 18; [txog 2 ntxaij]. Muaj los ntawm: https://npkua.org/Euthor/About-PKU
  9. NIH Lub Tebchaws Asmeskas Cov Tsev Kuaj Tshuaj (Genetics) Hauv Tsev [Hauv Is Taws Nem]. Bethesda (MD): Asmeskas Lub Chaw Haujlwm Saib Xyuas Kev Noj Qab Haus Huv thiab Tib Neeg; Phenylketonuria; 2018 Jul 17 [raug nplua 2018 Jul 18]; [txog 3 ntxaij]. Muaj los ntawm: https://ghr.nlm.nih.gov/condition/phenylketonuria
  10. NIH Lub Tebchaws Asmeskas Cov Tsev Kuaj Tshuaj (Genetics) Hauv Tsev [Hauv Is Taws Nem]. Bethesda (MD): Asmeskas Lub Chaw Haujlwm Saib Xyuas Kev Noj Qab Haus Huv thiab Tib Neeg; Lub cev hloov pauv tau zoo li cas thiab kev hloov pauv muaj li cas ?; 2018 Jul 17 [raug nplua 2018 Jul 18]; [txog 3 ntxaij]. Muaj los ntawm: https://ghr.nlm.nih.gov/primer/mutationsanddisorders/genemutation
  11. NORD: Cov Koom Haum Hauv Lub Tebchaws rau Cov Khoom Siv Muaj Tsawg [Internet]. Danbury (CT): NORD: Cov Koom Haum Hauv Lub Tebchaws rau Cov Tsis Txaus; c2018. Phenylketonuria; [hais 2018 2018 18; [txog 3 ntxaij]. Muaj los ntawm: https://rarediseases.org/rare-diseases/phenylketonuria
  12. University of Rochester Medical Center [Internet]. Rochester (NY): Tsev kawm qib siab Rochester Medical Center; c2018.Cov Kws Kho Mob Kev Noj Qab Haus Huv: Phenylketonuria (PKU); [hais 2018 2018 18; [txog 2 ntxaij]. Muaj los ntawm: https://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=167&contentid=pku
  13. UW Kev Noj Qab Haus Huv [Is Taws Nem]. Madison (WI): University of Wisconsin Cov Tsev Kho Mob thiab Chaw Kho Mob; c2018. Cov Ntaub Ntawv Noj Qab Haus Huv: Phenylketonuria (PKU) Kev Tshuaj Ntsuam: Yuav Ua Li Cas; [kho tshiab 2017 Tsib Hlis 4; hais 2018 Jul 18]; [txog 6 ntxaij]. Muaj los ntawm: https://www.uwhealth.org/health/topic/medicaltest/phenylketonuria-pku-test/hw41965.html#hw41978
  14. UW Kev Noj Qab Haus Huv [Is Taws Nem]. Madison (WI): University of Wisconsin Cov Tsev Kho Mob thiab Chaw Kho Mob; c2018. Cov Ntaub Ntawv Noj Qab Haus Huv: Phenylketonuria (PKU) Kuaj: Yuav Ua Li Cas; [kho tshiab 2017 Tsib Hlis 4; hais 2018 Jul 18]; [txog 5 ntxaij]. Muaj los ntawm: https://www.uwhealth.org/health/topic/medicaltest/phenylketonuria-pku-test/hw41965.html#hw41977
  15. UW Kev Noj Qab Haus Huv [Is Taws Nem]. Madison (WI): University of Wisconsin Cov Tsev Kho Mob thiab Chaw Kho Mob; c2018. Cov Ntaub Ntawv Kev Noj Qab Haus Huv: Phenylketonuria (PKU) Kev Tshuaj Ntsuam: Kev Ntsuam Xyuas Thoob Plaws; [kho tshiab 2017 Tsib Hlis 4; hais 2018 Jul 18]; [txog 2 ntxaij]. Muaj los ntawm: https://www.uwhealth.org/health/topic/medicaltest/phenylketonuria-pku-test/hw41965.html#hw41968
  16. UW Kev Noj Qab Haus Huv [Is Taws Nem]. Madison (WI): University of Wisconsin Cov Tsev Kho Mob thiab Chaw Kho Mob; c2018. Cov Ntaub Ntawv Noj Qab Haus Huv: Phenylketonuria (PKU) Kuaj: Yuav Tsum Xav Txog Dab Tsi; [kho tshiab 2017 Tsib Hlis 4; hais 2018 Jul 18]; [txog 10 ntxaij]. Muaj los ntawm: https://www.uwhealth.org/health/topic/medicaltest/phenylketonuria-pku-test/hw41965.html#hw41983
  17. UW Kev Noj Qab Haus Huv [Is Taws Nem]. Madison (WI): University of Wisconsin Cov Tsev Kho Mob thiab Chaw Kho Mob; c2018. Cov Ntaub Ntawv Noj Qab Haus Huv: Phenylketonuria (PKU) Kev Tshuaj Ntsuam: Vim Li Cas Nws Ua; [kho tshiab 2017 Tsib Hlis 4; hais 2018 Jul 18]; [txog 3 ntxaij]. Muaj los ntawm: https://www.uwhealth.org/health/topic/medicaltest/phenylketonuria-pku-test/hw41965.html#hw41973

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