Phenylketonuria (PKU)

Zoo Siab

• Cov tsos mob ntawm phenylketonuria
• Ua rau muaj phenylketonuria
• Yuav kuaj li cas
• Cov kev kho mob xaiv
• Kev noj haus
• Cov tshuaj noj
• Cev xeeb tub thiab phenylketonuria
• Kev saib sij hawm ntev rau cov neeg muaj phenylketonuria
• Tiv thaiv puas tau phenylketonuria?

Phenylketonuria yog dab tsi?

Phenylketonuria (PKU) yog ib qho kev tsis sib haum tsis tshua muaj tshwm sim uas ua rau cov amino acid hu ua phenylalanine tsim rau hauv lub cev. Amino acids yog lub tsev cov protein ntau. Phenylalanine yog pom nyob rau hauv tag nrho cov protein thiab ib co khoom qab zib.

Phenylalanine hydroxylase yog ib qho enzyme uas koj lub cev siv los hloov phenylalanine rau hauv tyrosine, uas koj lub cev xav tsim cov neurotransmitters xws li epinephrine, norepinephrine, thiab dopamine. PKU tshwm sim los ntawm qhov tsis txaus ntseeg hauv cov gene uas pab tsim phenylalanine hydroxylase. Thaum lub enzyme ploj lawm, koj lub cev tsis tuaj yeem rhuav tshem cov phenylalanine. Qhov no ua rau muaj kev tsim cov phenylalanine rau hauv koj lub cev.

Cov menyuam yaus hauv Tebchaws Meskas tau kuaj xyuas PKU sai sai tom qab yug. Tus mob no tsis tshua muaj tshwm sim hauv lub tebchaws no, tsuas yog cuam tshuam txog 1 ntawm 10,000 txog 15,000 tus menyuam yug tshiab txhua xyoo. Cov tsos mob hnyav thiab cov tsos mob ntawm PKU tsis tshua muaj nyob hauv Tebchaws Meskas, vim kev soj ntsuam thaum ntxov tso cai rau kev kho mob pib sai tom qab yug. Kev paub ntxov thiab kho mob tuaj yeem pab daws cov tsos mob ntawm PKU thiab tiv thaiv kev mob hlwb.

Cov tsos mob ntawm phenylketonuria

Cov tsos mob PKU tuaj yeem tshwm sim los ntawm mob hnyav mus rau mob hnyav. Hauv daim ntawv ntawm kev tsis zoo tshaj plaws yog hu ua classic PKU. Tus menyuam mos nrog lub hlwb PKU yuav tshwm sim zoo li thawj ob peb hlis ntawm lawv lub neej. Yog tias tus me nyuam tsis tau kho rau PKU hauv lub sijhawm no, lawv yuav pib tsim cov tsos mob nram qab no:

• qaug dab peg
• tshee hnyo, lossis tshee tshee thiab co
• stunted kev loj hlob
• hyperactivity
• daim tawv nqaij mob xws li eczema
• ib qho ntxhiab tsw ntxhiab txog lawv cov pa, tawv nqaij, lossis zis

Yog tias PKU tsis raug kuaj thaum yug thiab kev kho mob tsis tau pib sai, qhov kev puas tsuaj tuaj yeem ua rau:

• rov qab tsis tau hauv lub hlwb thiab kev xiam hlwb nyob hauv thawj ob peb lub hlis ntawm lub neej
• Teeb meem coj cwj pwm thiab qaug dab peg hauv cov menyuam hlob dua

Daim ntawv tsis hnyav dua ntawm PKU yog hu ua variant PKU lossis non-PKU hyperphenylalaninemia. Qhov no tshwm sim thaum tus menyuam muaj phenylalanine ntau hauv lawv lub cev. Cov menyuam mos uas muaj hom kev tsis sib haum xeeb no tsuas muaj mob mentsis xwb, tabsis lawv yuav tsum tau noj tej zaubmov tshwjxeeb txhawm rau tiv thaiv kev xiam hlwb.

Thaum pib noj zaubmov tshwj xeeb thiab lwm yam kev khomob tsim nyog, cov tsos mob pib ploj zuj zus. Cov neeg uas muaj PKU uas tswj lawv txoj kev noj zaub mov zoo feem ntau tsis pom muaj tsos mob dab tsi.

Ua rau muaj phenylketonuria

PKU yog qhov muaj mob uas tau muaj los ntawm qhov kev cuam tshuam hauv PAH gene. PAH gene pab tsim phenylalanine hydroxylase, lub enzyme lub luag hauj lwm rau kev zom phenylalanine. Ib qho kev txaus ntshai ntawm phenylalanine tuaj yeem tshwm sim thaum ib tug neeg noj zaub mov muaj protein ntau, xws li qe thiab nqaij.

Ob tog niam txiv yuav tsum muaj cov ntaub ntawv tsis sib haum xeeb ntawm PAH caj rau lawv cov menyuam mus rau qhov muaj feem tsis zoo. Yog tias tsuas yog ib leej niam leej txiv kis cov kab mob hloov pauv, tus me nyuam yuav tsis muaj cov tsos mob, tab sis lawv yuav yog tus nqa cov noob.

Yuav kuaj li cas

Txij li xyoo 1960, cov tsev kho mob hauv Tebchaws Asmeskas tau niaj zaus kuaj cov menyuam yug tshiab rau PKU los ntawm kev kuaj ntshav. Tus kws kho mob siv rab koob lossis lancet coj ob peb ncos ntshav ntawm koj tus menyuam lub pob taws mus kuaj rau PKU thiab lwm yam kev mob caj ces.

Kev tshuaj ntsuam tau yog ua thaum tus menyuam muaj 1 rau 2 hnub thiab tseem nyob hauv tsev khomob. Yog tias koj tsis xa koj tus menyuam hauv tsev khomob, koj yuav tsum teem sijhawm nrog koj tus kws khomob tham.

Cov kev sim ntxiv yuav ua kom paub meej tias qhov tshwm sim thawj zaug. Cov kev ntsuam xyuas no tshawb xyuas qhov muaj qhov hloov pauv ntawm PAH gene hloov uas ua rau PKU. Cov kev kuaj no feem ntau tau ua hauv rau lub lis piam tom qab yug.

Yog tias menyuam yaus lossis neeg laus muaj cov tsos mob tshwm sim ntawm PKU, xws li kev loj hlob qeeb, tus kws kho mob yuav xaj mus kuaj ntshav kom paub meej tias kuaj mob. Qhov kev kuaj no yuav cuam tshuam kev kuaj ntshav thiab ntsuam xyuas nws rau qhov muaj enzyme xav tau txhawm rau phenylalanine.

Cov kev kho mob xaiv

Cov neeg nrog PKU tuaj yeem tshem tawm lawv cov tsos mob thiab tiv thaiv cov teeb meem los ntawm kev ua raws li kev noj haus tshwj xeeb thiab los ntawm kev noj tshuaj.

Kev noj haus

Txoj hauv kev kho tshuaj PKU yog kom noj cov zaub mov tshwj xeeb uas txwv cov zaub mov muaj phenylalanine. Cov menyuam mos nrog PKU tuaj yeem pub niam mis tau. Lawv feem ntau kuj yuav tsum noj cov mis tshwj xeeb hu ua Lofenalac. Thaum koj tus menyuam muaj hnub nyoog txaus los noj zaub mov tawv, koj yuav tsum zam kom tsis txhob cia lawv noj cov khoom noj muaj protein ntau. Cov zaub mov no suav nrog:

• qe
• cheese
• txiv ntoo
• mis nyuj
• taum
• qaib
• nqaij nyuj
• nqaij npuas
• ntses

Txhawm rau kom paub tseeb tias lawv tseem tau txais cov khoom noj txaus protein, menyuam yaus nrog PKU yuav tsum haus cov tshuaj PKU. Nws muaj tag nrho cov amino acids uas lub cev xav tau, tshwj tsis yog rau phenylalanine. Kuj tseem muaj qee yam khoom noj uas tsis muaj protein ntau, PKU-phooj ywg uas tuaj yeem nrhiav tau ntawm cov khw muag khoom noj khoom haus tshwj xeeb.

Cov neeg nrog PKU yuav tau ua raws li cov kev txwv noj haus no thiab haus cov mis PKU thoob lawv lub neej kom tswj hwm lawv cov tsos mob.

Nws yog ib qho tseem ceeb kom nco ntsoov tias PKU cov phiaj xwm pluas mov sib txawv txawv rau ib tus neeg. Cov neeg nrog PKU yuav tsum ua haujlwm nrog tus kws kho mob lossis tus kws qhia noj zaub mov kom muaj kev noj zaub mov kom zoo thaum lub sijhawm txwv kom lawv noj phenylalanine. Lawv kuj yuav tsum tau saib xyuas lawv cov qib phenylalanine los ntawm kev khaws cov ntaub ntawv ntawm tus neeg muaj phenylalanine ntau hauv cov zaub mov uas lawv noj thawm hnub.

Qee lub xeev cov kev cai lij choj tau tshaj tawm cov nuj nqis uas muab qee qhov kev pov hwm rau cov zaub mov thiab cov qauv uas tsim nyog los kho PKU. Nug koj lub xeev tsim cai lij choj thiab tuam txhab tuav pov hwm kev kho mob kom paub seb qhov kev pov hwm no muaj pab tau koj. Yog tias koj tsis muaj kev tuav pov hwm kho mob, koj tuaj yeem tshawb xyuas nrog koj lub tuam tsev saib xyuas kev noj qab haus huv hauv zos kom pom cov kev xaiv zoo li cas los pab koj them PK mis.

Cov tshuaj noj

Tsoom Fwv Teb Chaws Asmeskas Khoom Noj thiab Tshuaj (FDA) tau pom zoo sapropterin (Kuvan) rau kev kho PKU. Sapropterin pab txo qis cov phenylalanine ntau ntau. Cov tshuaj no yuav tsum tau siv ua ke nrog tshwj xeeb PKU hom phiaj noj mov. Txawm li cas los xij, nws tsis ua haujlwm rau txhua tus neeg nrog PKU. Nws zoo tshaj rau cov menyuam yaus uas muaj mob me me ntawm PKU.

Cev xeeb tub thiab phenylketonuria

Cov poj niam nrog PKU tuaj yeem pheej hmoo muaj teeb meem, suav nrog kev nchuav menyuam, yog tias lawv tsis ua raws li PKU cov zaub mov noj thaum lawv cov menyuam muaj hnub nyoog. Nws kuj tseem muaj sijhawm tias tus menyuam mos hauv plab yuav raug nthuav tawm ntau ntawm phenylalanine. Qhov no tuaj yeem ua rau ntau yam teeb meem hauv tus menyuam, suav nrog:

• txoj kev xiam hlwb
• lub plawv kho mob
• ncua kev loj hlob
• tsawg yug me nyuam hnyav
• ib qho txawv txav me me taub hau

Cov phiajcim no tsis tuaj yeem pom sai rau cov menyuam mos, tabsis kws kho mob yuav kuaj ntsuas seb puas muaj xwm txheej dab tsi uas koj tus menyuam muaj.

Kev saib sij hawm ntev rau cov neeg muaj phenylketonuria

Qhov kev pom ntev ntev rau cov neeg nrog PKU yog qhov zoo heev yog tias lawv ua raws li PKU cov phiaj xwm noj mov ze thiab sai tom qab yug. Thaum kuaj mob thiab kho mob qeeb, lub hlwb puas yuav tshwm sim. Qhov no tuaj yeem ua rau kev xiam oob khab ntawm tus menyuam thawj xyoo ntawm lub neej. Yog tsis kho PKU kuj tseem tuaj yeem ua rau:

• ncua kev txhim kho
• kev coj cwj pwm thiab teeb meem
• cov teeb meem hlab ntsha hlwb, xws li tshee thiab qaug dab peg

Tiv thaiv puas tau phenylketonuria?

PKU yog kev mob caj ces, yog li nws tiv thaiv tsis tau. Txawm li cas los xij, ib qho kev paub txog enzyme tuaj yeem ua rau cov neeg uas npaj yuav muaj menyuam. Kev tso tshuaj enzyme yog kev kuaj ntshav uas tuaj yeem txiav txim siab seb ib tug neeg nqa lub gene puas uas ua rau PKU. Qhov kev sim tseem yuav ua tau thaum cev xeeb tub los kuaj cov menyuam tsis tau yug hauv PKU.

Yog tias koj muaj PKU, koj tuaj yeem tiv thaiv cov tsos mob los ntawm kev ua raws li koj lub phiaj xwm kev noj mov PKU thoob plaws koj lub neej.