Dab tsi yog phenylketonuria thiab tuaj yeem kho tau

2024 Tus sau: Malcolm Clapton | [email protected]. Kawg hloov kho: 2023-12-17 03:58

Kev noj zaub mov tshwj xeeb yuav pab kom tsis txhob muaj qhov tshwm sim ntawm tus kab mob.

Dab tsi yog phenylketonuria

Phenylketonuria Phenylketonuria (PKU) yog ib yam kab mob tsis tshua muaj tshwm sim uas cov amino acid phenylalanine tsis tuaj yeem nqus tau los ntawm tus menyuam. Nws tseem nyob hauv cov ntshav thiab ua raws li cov tshuaj lom ntawm lub paj hlwb.

Phenylketonuria tau txais los ntawm Phenylketonuria nyob rau hauv ib qho autosomal recessive yam. Qhov no txhais tau hais tias cov noob tsis raug kis mus rau tus menyuam los ntawm ob tus niam txiv uas muaj kev noj qab haus huv, uas cov metabolism ntawm phenylalanine nyob ntawm. Kev hloov pauv hauv cov noob tuaj yeem ua tiav, tom qab ntawd tus kab mob muaj cov tsos mob hnyav heev. Yog tias qhov teeb meem tsis tiav, phenylketonuria ua rau hauv daim ntawv me me, cov kab mob tsis tshua pom.

Dab tsi yog cov tsos mob ntawm phenylketonuria

Tam sim ntawd tom qab yug me nyuam, tus me nyuam noj mis nyuj, uas muaj protein ntau. Nws muaj cov amino acids, uas txhais tau hais tias nws kuj muaj phenylalanine. Yog li ntawd, tom qab ob peb hnub, thaum cov tshuaj accumulates nyob rau hauv cov ntshav, tus me nyuam tsim cov tsos mob ntawm tus kab mob. Cov no tuaj yeem suav nrog Phenylketonuria (PKU):

• tsw ntxhiab tsw ntawm qhov ncauj, tawv nqaij thiab zis;
• liab liab ntawm lub cev;
• mob taub hau.

Cov kws kho mob qee zaum pom tias tus menyuam yug los nrog lub taub hau me me. Cov menyuam yaus uas muaj tus mob no feem ntau muaj lub qhov muag xiav thiab daj ntseg. Qhov no yog vim qhov tseeb tias phenylalanine xav tau rau kev sib txuas ntawm cov xim melanin, uas muab xim rau iris thiab tawv nqaij.

Vim li cas phenylketonuria txaus ntshai?

Hauv cov menyuam yaus uas muaj kab mob caj ces, ntau tshaj phenylalanine hauv cov ntshav ua rau cov nqaij mos puas. Feem ntau ntawm tag nrho cov no yog manifested nyob rau hauv lub paj hlwb. Yog tias tus kab mob no tsis kho, lub hlwb raug cuam tshuam. Cov kws kho mob pom tias Phenylketonuria (PKU), uas cov menyuam yaus no muaj kev ntxhov siab txij li thaum ntxov, muaj kev tswj tsis zoo. Lawv txoj kev loj hlob ntawm kev puas siab puas ntsws qeeb, thiab ntau tus neeg muaj teeb meem kev coj cwj pwm lossis kev puas siab puas ntsws.

Nrog ncua kev kho mob, nws yuav luag tsis yooj yim sua kom rov ua haujlwm ntawm lub paj hlwb. Yog li ntawd, nws yog ib qho tseem ceeb kom paub txog cov pathology kom ntxov li sai tau.

Yuav kuaj li cas phenylketonuria?

Los ntawm kev txiav txim ntawm Ministry of Health thiab Social Development ntawm Lavxias teb sab Federation ntawm lub Peb Hlis 22, 2006 No. 185 "Nyob rau hauv loj kev ntsuam xyuas ntawm cov me nyuam yug tshiab rau cov kab mob hereditary" (ua ke nrog "Cov kev cai ntawm lub koom haum ntawm kev soj ntsuam loj Cov me nyuam yug tshiab rau cov kab mob los ntawm cov kab mob ntawm cov kab mob ") Ministry of Health thiab Social Development ntawm Lavxias teb sab Federation ntawm lub Peb Hlis 22, 2006 No. 185 "Ntawm kev ntsuam xyuas loj ntawm cov me nyuam yug los rau cov kab mob hereditary" tag nrho cov me nyuam mos nyob rau plaub los yog xya hnub tom qab yug me nyuam nqa cov ntshav los ntawm pob taws mus kuaj rau tsib yam kab mob caj ces. Lawv tuaj yeem cuam tshuam kev loj hlob ntxiv ntawm tus menyuam. Nws:

• phenylketonuria;
• galactosemia;
• adrenogenital syndrome;
• congenital hypothyroidism;
• cystic fibrosis.

Yog tias qhov kev kuaj pom zoo tuaj, tus menyuam yuav raug muab tshuaj kho.

Yuav kho phenylketonuria li cas?

Nws yog tsis yooj yim sua kom tshem tau ntawm caj ces tsis xws luag. Tab sis tus kws kho mob tuaj yeem pom zoo kom noj zaub mov tshwj xeeb. Cov kev kho mob phenylketonuria (PKU) yog dab tsi?, uas tsis suav nrog cov khoom noj uas muaj protein ntau. Tom qab ntawd phenylalanine yuav tsis nkag mus rau hauv lub cev thiab yuav tsis muaj kev pheej hmoo ntawm cov teeb meem. Cov neeg uas muaj phenylketonuria yuav tsum tsis txhob:

• qe;
• mis nyuj thiab cheese;
• nqaij: nqaij qaib, nqaij npuas, nqaij nyuj;
• ntses;
• legumes, taum pauv;
• npias.

Tsis tas li ntawd tsis txhob siv cov sweetener aspartame. Cov kev kho mob zoo li cas rau phenylketonuria (PKU)? uas, thaum digested, tso phenylalanine. Qhov kev hloov qab zib no feem ntau ntxiv rau cov dej qab zib, zom cov pos hniav, thiab qee cov tshuaj.

Tab sis xws li kev noj zaub mov tsis pub muaj protein ntau hauv lub neej yog qhov tsis zoo rau kev loj hlob ntawm lub cev. Yog li ntawd, tus kws kho mob yuav pom zoo kom noj zaub mov tshwj xeeb rau cov menyuam yaus. sib tov.

Rau kev kho mob ntawm cov neeg mob nrog phenylketonuria, cov tshuaj Phenylketonuria: Kev tswj thiab kev kho mob raws li saproterin dihydrochloride tau pom zoo. Cov tshuaj no pab txhawm rau phenylalanine thiab txo nws cov concentration hauv cov ntshav. Tab sis siv cov kev kho mob rau phenylketonuria (PKU) yog dab tsi? cov tshuaj tsuas yog xav tau ua ke nrog kev noj haus.

Tseem tsis tau muaj lwm txoj kev xaiv. Cov kws tshawb fawb tab tom nrhiav txoj hauv kev Dab tsi yog kev kho mob rau phenylketonuria (PKU)? yuav ua li cas los kho cov noob caj noob ces los qhia qhov ploj ntawm chromosome. Ib txhia hais tias muab cov neeg mob lwm cov amino acids uas yuav tiv thaiv phenylalanine los ntawm lub hlwb. Tab sis cov txheej txheem no tseem tab tom tshawb nrhiav.