IPhenylketonuria (PKU) Uvavanyo

Umxholo

• Yintoni uvavanyo lwePKU?
• Isetyenziselwa ntoni?
• Kutheni le nto usana lwam lufuna uvavanyo lokuvavanywa kwePKU?
• Kwenzeka ntoni ngexesha lovavanyo lokuhlola lwe-PKU?
• Ngaba kuya kufuneka ndenze nantoni na ukulungiselela usana lwam uvavanyo?
• Ngaba bukhona ubungozi kuvavanyo?
• Zithetha ntoni iziphumo?
• Ngaba ikhona enye into endifuna ukuyazi malunga novavanyo lokuvavanywa kwePKU?
• Izalathiso

Yintoni uvavanyo lwePKU?

Uvavanyo lokuvavanywa kwe-PKU luvavanyo lwegazi olunikwa iintsana kwiiyure ezingama-24-72 emva kokuzalwa. I-PKU imele i-phenylketonuria, isifo esinqabileyo esithintela umzimba ukuba ungaphuli ngokufanelekileyo into ebizwa ngokuba yi-phenylalanine (Phe). I-Phe yinxalenye yeeproteni ezifumaneka kukutya okuninzi nakwiswiti eyenziweyo ebizwa ngokuba yi-aspartame.

Ukuba unayo iPKU kwaye utye oku kutya, uPhe uya kwakha egazini. Amanqanaba aphezulu ePhe angayonakalisa ngokusisigxina inkqubo yeengqondo kunye nengqondo, ebangela iingxaki ezahlukeneyo zempilo. Oku kubandakanya ukuxhuzula, iingxaki zengqondo, kunye nokukhubazeka kwengqondo okuqatha.

I-PKU ibangelwa kukutshintsha kwemfuza, utshintsho kwimisebenzi eqhelekileyo yofuzo. Imfuza zizinto zokuqala ezisisiseko zofuzo ezidluliselwe zivela kunyoko nakuyihlo. Ukuze umntwana afumane ukuphazamiseka, bobabini umama notata kufuneka badlulise i-PKU gene eguqulweyo.

Nangona i-PKU inqabile, lonke usana olusanda kuzalwa e-United States kufuneka lufumane uvavanyo lwe-PKU.

• Uvavanyo lulula, kungabikho mngcipheko empilweni. Kodwa inokugcina umntwana ekonakaleni kobomi bonke kunye / okanye nakwezinye iingxaki ezinzulu zempilo.
• Ukuba i-PKU ifunyenwe kwangethuba, ukulandela ukutya okukhethekileyo, ukutya okusezantsi kwe-Phe kungathintela iingxaki.
• Kukho iifomula ezenziwe ngokukodwa zeentsana ezine-PKU.
• Abantu abane-PKU kufuneka bahlale kwiprotheyini / ukutya okuncinci kwe-Phe ubomi babo bonke.

Amanye amagama: Uvavanyo lwe-PKU olusanda kuzalwa, uvavanyo lwe-PKU

Isetyenziselwa ntoni?

Uvavanyo lwe-PKU lusetyenziselwa ukubona ukuba usana olusandul 'ukuzalwa lunamanqanaba aphezulu ePhe egazini. Oku kunokuthetha ukuba umntwana une-PKU, kwaye kuvavanyo oluninzi kuya kuyalelwa ukuba kuqinisekiswe okanye kuthintelwe ukuxilongwa.

Kutheni le nto usana lwam lufuna uvavanyo lokuvavanywa kwePKU?

Iintsana e-United States ziyafuneka ukuba zifumane uvavanyo lwe-PKU. Uvavanyo lwe-PKU luhlala luyinxalenye yoluhlu lweemvavanyo ezibizwa ngokuba kukuhlolwa kosana olusandula kuzalwa. Abanye abantwana abadala kunye nabantwana banokufuna ukuvavanywa ukuba bamkelwe kwelinye ilizwe, kunye / okanye ukuba baneempawu zePKU, ezibandakanya:

• Ukulibaziseka kophuhliso
• Ubunzima bengqondo
• Ivumba elimnandi emphefumlweni, kulusu, kunye / okanye kumchamo
• Intloko encinci encinci (i-microcephaly)

Kwenzeka ntoni ngexesha lovavanyo lokuhlola lwe-PKU?

Umboneleli wezempilo uyakucoca isithende somntwana wakho ngotywala kwaye asibambe isithende ngenaliti encinci. Umboneleli uya kuqokelela amathontsi ambalwa egazi kwaye abeke i-bandage kwisiza.

Uvavanyo kufuneka lwenziwe kwakamsinyane kwiiyure ezingama-24 emva kokuzalwa, ukuqinisekisa ukuba umntwana uthathe iprotein ethile, nokuba kungobisi lwebele okanye ubisi olungumgubo. Oku kuya kunceda ukuqinisekisa ukuba iziphumo zichanekile. Kodwa uvavanyo kufuneka lwenziwe phakathi kweeyure ezingama-24-72 emva kokuzalwa ukukhusela iingxaki ze-PKU. Ukuba umntwana wakho akazalwanga esibhedlele okanye ukuba usishiye esibhedlele kwangoko, qiniseka ukuba uthethe nomboneleli wezempilo womntwana wakho ukucwangcisa uvavanyo lwe-PKU ngokukhawuleza.

Ngaba kuya kufuneka ndenze nantoni na ukulungiselela usana lwam uvavanyo?

Akukho lungiselelo lukhethekileyo lufunekayo kuvavanyo lwePKU.

Ngaba bukhona ubungozi kuvavanyo?

Kukho umngcipheko omncinci kumntwana wakho kuvavanyo lwenaliti. Usana lwakho lunokuziva lincinci kancinci xa isithende sikhutshiwe, kwaye ukubetha okuncinci kunokubakho kwindawo leyo. Oku kuya kuhamba ngokukhawuleza.

Zithetha ntoni iziphumo?

Ukuba iziphumo zomntwana wakho bezingaqhelekanga, umboneleli wakho wezempilo uya kuyalela iimvavanyo ezininzi ukuze aqinisekise okanye akhuphe iPKU. Olu vavanyo lunokubandakanya uvavanyo lwegazi kunye / okanye neemvavanyo zomchamo. Wena nosana lwakho ninokufumana iimvavanyo zofuzo, kuba iPKU yimeko enikwe ilifa.

Ukuba iziphumo beziqhelekile, kodwa uvavanyo lwenziwe kwangaphambi kweeyure ezingama-24 emva kokuzalwa, umntwana wakho kungafuneka avavanywe kwakhona kwiiveki ezi-1 ukuya kwezi-2 ubudala.

Funda ngakumbi malunga novavanyo lwelabhoratri, uluhlu lweereferensi, kunye neziphumo zokuqonda.

Ngaba ikhona enye into endifuna ukuyazi malunga novavanyo lokuvavanywa kwePKU?

Ukuba umntwana wakho kwafunyaniswa ukuba une-PKU, angasela ifomula engenayo iPhe. Ukuba ungathanda ukuncancisa, thetha nomboneleli wakho wezempilo. Ubisi lwebele lunayo i-Phe, kodwa umntwana wakho anganakho ukuba nenani eliqingqiweyo, elongezwe yifomula yasimahla yePhe. Nokuba kunjalo, umntwana wakho uya kudinga ukuhlala kukutya okukhethekileyo okuneeprotein ebomini. Ukutya kwe-PKU kuhlala kuthetha ukunqanda ukutya okuneprotein ephezulu njengenyama, intlanzi, amaqanda, ubisi, amandongomane kunye neembotyi. Endaweni yoko, ukutya okuya kuthi kubandakanye ukutya okuziinkozo, isitatshi, iziqhamo, indawo yobisi, kunye nezinye izinto eziphantsi okanye ezingenayo iPhe.

Umboneleli wezempilo womntwana wakho unokucebisa ngengcali enye okanye nangaphezulu kunye nezinye izixhobo ukukunceda ukulawula ukutya komntwana wakho kwaye ugcine umntwana wakho esempilweni. Kukwakho nezixhobo ezahlukeneyo ezifumanekayo kulutsha nakubantu abadala abanePKU. Ukuba unayo i-PKU, thetha nomboneleli wakho wezempilo malunga nezona ndlela zokukhathalela iimfuno zakho zokutya kunye nezempilo.

Izalathiso

1. Umbutho waseMelika wokukhulelwa [i-Intanethi]. Irving (TX): Umbutho waseMelika okhulelweyo; c2018. IPhenylketonuria (PKU); [uhlaziywe ngo-2017 Agasti 5; icatshulwe ngo-2018 kaJulayi 18]; [malunga nezikrini ezi-3]. Ifumaneka kwi: http://americanpregnancy.org/birth-defects/phenylketonuria-pku
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Ulwazi olukule ndawo akufuneki lusetyenziswe endaweni yonyango okanye iingcebiso. Nxibelelana nomboneleli wezempilo ukuba unemibuzo malunga nempilo yakho.