Phenylketonuria (PKU) ndi chiyani? Zizindikiro ndi Chithandizo

Phenylketonuria (PKU)ndi chikhalidwe chosowa majini chomwe chimapangitsa kuti amino acid otchedwa phenylalanine amange m'thupi. Ma amino acid ndizomwe zimamanga mapuloteni. Phenylalanine Amapezeka m'mapuloteni onse ndi zotsekemera zina.

Phenylalanine hydroxylase ndi puloteni yomwe thupi limagwiritsa ntchito kusintha phenylalanine kukhala tyrosine, yomwe thupi limafunikira kupanga ma neurotransmitters monga epinephrine, norepinephrine, ndi dopamine.

Phenylketonuriaamayamba chifukwa cha vuto la jini lomwe limathandiza kupanga phenylalanine hydroxylase. Enzyme iyi ikasowa, thupi silingathe kuphwanya phenylalanine. Izi zimayambitsa kuchuluka kwa phenylalanine m'thupi.

Ana amakapimidwa PKU atangobadwa. Kuzindikira koyambirira ndi chithandizo, zizindikiro za phenylketonuria akhoza kuchepetsa ndi kuteteza ubongo kuwonongeka.

Kodi Zizindikiro za Phenylketonuria ndi ziti?

Zizindikiro za PKU akhoza kukhala ofatsa mpaka okhwima. Kwambiri mawonekedwe a matenda classic phenylketonuria wodziwika kuti. 

Mwana yemwe ali ndi PKU yapamwamba angawoneke ngati wabwinobwino kwa miyezi ingapo ya moyo. Panthawi imeneyi mwanayo phenyltonuria Ngati sanalandire chithandizo, amayamba kukhala ndi zizindikiro zotsatirazi:

- kukomoka

- kugwedeza

- Kukula kosakwanira

- Hyperactivity

- Chikanga matenda a khungu monga

- Kununkhira kwa mpweya, khungu kapena mkodzo

Phenylketonuria Ngati sichidziwika pobadwa ndipo chithandizo sichinayambike msanga, matendawa angayambitse:

- Kuwonongeka kwaubongo kosasinthika komanso kulumala kwanzeru m'miyezi ingapo yoyambirira yamoyo

- Mavuto amakhalidwe ndi kukomoka kwa ana okulirapo

Mtundu wocheperako wa PKU umatchedwa variant PKU kapena non-PKU hyperphenylalaninemia. Izi zimachitika pamene thupi la mwanayo lili ndi phenylalanine yambiri.

Ana omwe ali ndi matendawa amatha kukhala ndi zizindikiro zochepa chabe, koma ayenera kutsatira zakudya zapadera kuti apewe kulumala.

Pamene zakudya zinazake ndi mankhwala ena ofunikira ayamba, zizindikiro zimayamba kuchepa. Phenylketonuria zakudyaAnthu omwe amasamalira nyamakazi moyenera nthawi zambiri sawonetsa zizindikiro zilizonse.

Zomwe Zimayambitsa Phenylketonuria?

Phenylketonuria matendandi chikhalidwe chobadwa nacho chifukwa cha vuto la jini la PAH. Jeni la PAH limathandizira kupanga phenylalanine hydroxylase, puloteni yomwe imayambitsa kuwonongeka kwa phenylalanine.

Kuchulukana koopsa kwa phenylalanine kumatha kuchitika munthu akadya zakudya zokhala ndi mapuloteni ambiri monga mazira ndi nyama.

Kuti mwana atengere matendawa, makolo onse awiri ayenera kukhala ndi mtundu wolakwika wa jini ya PAH. Ngati kholo limodzi lokha lidutsa pa jiniyi, mwanayo sadzakhala ndi zizindikiro, koma adzakhala chonyamulira cha jini.

Mitundu ya phenylketonuria ndi iyi;

Kuopsa kwa phenylketonuria kumasiyanasiyana malinga ndi mtundu wake.

Classic PKU

Mtundu woopsa kwambiri wa matendawa umatchedwa PKU yachikale. Enzyme yofunika kutembenuza phenylalanine ikusowa kapena kuchepetsedwa kwambiri, zomwe zimapangitsa kuti phenylalanine ikhale yochuluka komanso kuwonongeka kwakukulu kwa ubongo.

Mitundu yocheperako ya PKU

Mu mawonekedwe odekha kapena ochepera, enzyme imasunga zina mwazochita zake, kotero milingo ya phenylalanine siili yokwera kwambiri, kuchepetsa chiopsezo cha kuwonongeka kwakukulu kwaubongo.

Komabe, ana ambiri omwe ali ndi vutoli amavutika kuti apewe kulumala kwanzeru ndi zovuta zina. phenylketonuria zakudya ayenera kutsatira

Mimba ndi Phenylketonuria

Phenylketonuria Amayi omwe ali ndi pakati ndi oyembekezera ali pachiwopsezo cha mtundu wina wa matenda otchedwa PKU ya amayi. 

akazi asanakhale ndi pakati phenylketonuria zakudyaNgati satsatiridwa bwino, kuchuluka kwa phenylalanine m'magazi kumatha kukwera ndikuvulaza mwana wosabadwayo kapena kuchititsa padera.

Ngakhale amayi omwe ali ndi mitundu yochepa ya PKU, phenylketonuria zakudyaKulephera kutsatira izi kungaike pangozi ana awo osabadwa.

Ana obadwa kwa amayi omwe ali ndi phenylalanine wambiri amakhala nthawi zambiri phenylketonuria matendaSalandira cholowa. Komabe, ngati mulingo wa phenylalanine m'magazi a mayi ndi wokwera kwambiri panthawi yomwe ali ndi pakati, zitha kukhala ndi zotsatirapo zoyipa. Zovuta pakubadwa ndi monga:

- Kubadwa kochepa

- Kuchedwa chitukuko

- zolakwika za nkhope

- Mutu wawung'ono kwambiri

-Kuwonongeka kwamtima ndi zovuta zina zamtima

- kufooka kwa ubongo

- Mavuto amakhalidwe 

Kodi Zomwe Zimayambitsa Matenda a Phenylketonuria ndi Chiyani?

Ziwopsezo zotengera kutengera kwa phenylketonuria ndi:

Makolo onse awiri ali ndi jini yolakwika yomwe imayambitsa PKU

Makolo aŵiri ayenera kupatsirana kope limodzi la jini yosokonekera kuti mwana wawo akule vutoli.

kukhala ndi fuko linalake

Phenylketonuria matendaVuto la majini lomwe limayambitsa nyamakazi ya nyamakazi limasiyanasiyana malinga ndi mafuko ndipo silofala kwambiri ku Africa-America kuposa mafuko ena.

Matenda a Phenylketonuria

osathandizidwa phenylketonuria matendakungayambitse mavuto kwa makanda, ana, ndi akuluakulu omwe ali ndi vutoli.

ndi phenylketonuria Amayi akakhala ndi kuchuluka kwa phenylalanine m'magazi pa nthawi yomwe ali ndi pakati, vuto la kubadwa kwa mwana wosabadwayo kapena kupita padera kumatha kuchitika.

osathandizidwa phenylketonuria matenda zingayambitse:

- Kuwonongeka kwaubongo kosasinthika komanso kulumala kwakukulu kwanzeru kuyambira m'miyezi ingapo yoyambirira yamoyo

Mavuto a ubongo monga kukomoka ndi kunjenjemera

- Mavuto a khalidwe, maganizo ndi chikhalidwe cha ana okulirapo ndi akuluakulu

- Nkhani zazikulu zaumoyo ndi chitukuko

Kuzindikira kwa Phenylketonuria

Phenylketonuria (PKU) Test

Dokotala amatenga madontho ochepa a magazi kuchokera pachidendene cha mwanayo kuti ayese PKU ndi matenda ena obadwa nawo. Kuyezetsa kwake kumachitika pamene mwanayo ali ndi tsiku limodzi kapena awiri ndipo akadali m'chipatala.

Kuyesa kowonjezera kungathe kuchitidwa kuti mutsimikizire zotsatira zoyamba. Mayesowa amayang'ana kupezeka kwa PAH gene mutation yomwe imayambitsa PKU. Mayeserowa nthawi zambiri amachitidwa patadutsa masabata asanu ndi limodzi atabadwa.

Ngati mwana kapena wamkulu akuwonetsa zizindikiro za PKU, monga kuchedwa kwa chitukuko, dokotala adzayitanitsa kuyezetsa magazi kuti atsimikizire za matendawa. Kuyezetsa kumeneku kumaphatikizapo kutenga magazi ndi kuunika kuti pali puloteni yofunikira kuti awononge phenylalanine.

Chithandizo cha Phenylketonuria

Phenylketonuria Anthu odwala matenda a shuga amatha kuthetsa zizindikiro komanso kupewa zovuta mwa kutsatira zakudya zapadera komanso kumwa mankhwala.

Phenylketonuria Zakudya

Njira yayikulu yochizira PKU ndi kudya kwapadera komwe kumachepetsa zakudya zomwe zili ndi phenylalanine. Ana omwe ali ndi PKU akhoza kuyamwitsa.

Ayeneranso kudya njira yapadera, yomwe nthawi zambiri imadziwika kuti Lofenalac. Mwanayo akafika msinkhu woti azitha kudya zakudya zolimba, ndi bwino kuti asamamulole kudya zakudya zokhala ndi mapuloteni ambiri. Zakudya izi ndi:

- Dzira

- Tchizi

- Hazelnut

- Mkaka

- Nyemba

- Nkhuku

- Ng'ombe

- Nsomba

Ndikofunika kuzindikira kuti mapulani a PKU amasiyana pakati pa anthu. Anthu omwe ali ndi PKU ayenera kugwirira ntchito limodzi ndi dokotala kapena katswiri wa zakudya kuti atsimikizire kuti ali ndi thanzi labwino komanso kuchepetsa kudya kwawo kwa phenylalanine.

Ayeneranso kuyang'anira kuchuluka kwa phenylalanine mwa kusunga zolemba za kuchuluka kwa phenylalanine muzakudya zomwe amadya tsiku lonse. 

mankhwala

Chithandizo cha PKU Sapropterin (Kuvan) amagwiritsidwa ntchito Sapropterin imathandizira kuchepetsa milingo ya phenylalanine.

Mankhwalawa ayenera kugwiritsidwa ntchito limodzi ndi dongosolo lazakudya la PKU. Komabe, sizothandiza kwa aliyense yemwe ali ndi PKU. Ndi bwino ana ndi wofatsa milandu PKU.

Ndi liti pamene muyenera kuwona dokotala?

Pazifukwa izi, ndikofunikira kupeza chithandizo chamankhwala:

obadwa kumene

Ngati kuyezetsa kwanthawi zonse kwa mwana wobadwa kumene kukuwonetsa kuti mwanayo ali ndi PKU, dokotala wa mwanayo adzafuna kuyambitsa chithandizo chamankhwala mwamsanga kuti apewe mavuto a nthawi yaitali.

akazi a msinkhu wobereka

Ndikofunikira makamaka kwa amayi omwe ali ndi mbiri ya PKU kukaonana ndi dokotala asanabadwe komanso panthawi yomwe ali ndi pakati ndikukhalabe ndi zakudya za PKU kuti achepetse chiopsezo cha kuchuluka kwa phenylalanine m'magazi kuvulaza mwana wawo wosabadwa.

Akuluakulu

Anthu omwe ali ndi PKU akupitirizabe kulandira chithandizo pamoyo wawo wonse. Akuluakulu omwe ali ndi PKU omwe amasiya kudya kwa PKU akatha msinkhu ayenera kuwona dokotala.

Kubwereranso ku zakudya kumatha kusintha magwiridwe antchito amalingaliro ndi machitidwe ndikuchepetsa kuwonongeka kwa dongosolo lapakati lamanjenje lomwe lingabwere chifukwa cha kuchuluka kwa phenylalanine.

omwe ali ndi phenylketonuria;

Phenylketonuria odwalaatangobadwa kumene phenylketonuria zakudya Ngati atsatira dongosolo lake mosamalitsa, pasakhale vuto.

Pamene matenda ndi chithandizo chachedwa, ubongo ukhoza kuwonongeka. Kusokonezeka maganizo kungachitike. PKU yosathandizidwa ikhoza kubweretsa:

- Kuchedwa chitukuko

- Mavuto amakhalidwe ndi malingaliro

Mavuto a ubongo monga kunjenjemera ndi kukomoka

Kodi Phenylketonuria Angapewedwe?

Phenylketonuria ndi chikhalidwe cha chibadwa, motero sitingapewedwe. Komabe, kuyesa kwa enzyme kumatha kuchitidwa kwa anthu omwe akukonzekera kukhala ndi ana.

Ma enzyme assay ndi kuyesa magazi komwe kumatha kudziwa ngati wina ali ndi jini yolakwika yomwe imayambitsa PKU. Kuyezetsako kungathenso kuchitidwa panthawi yomwe ali ndi pakati kuti awone makanda omwe sanabadwe PKU.

Phenylketonuria Ngati mutero, mukhoza kuteteza zizindikiro mwa kutsatira ndondomeko ya zakudya nthawi zonse pamoyo wanu.