Phenylketonuria (PKU)

Zamkati

• Zizindikiro za phenylketonuria
• Zimayambitsa phenylketonuria
• Momwe amadziwika
• Njira zothandizira
• Zakudya
• Mankhwala
• Mimba ndi phenylketonuria
• Kuwona kwakanthawi kwa anthu omwe ali ndi phenylketonuria
• Kodi phenylketonuria ingapewe?

Kodi phenylketonuria ndi chiyani?

Phenylketonuria (PKU) ndichikhalidwe chosowa chomwe chimayambitsa amino acid yotchedwa phenylalanine kuti imange mthupi. Amino acid ndiye zomanga zomanga thupi. Phenylalanine imapezeka m'maproteni onse ndi zotsekemera zina zopangira.

Phenylalanine hydroxylase ndi enzyme yomwe thupi lanu limagwiritsa ntchito kusintha phenylalanine kukhala tyrosine, yomwe thupi lanu limayenera kupanga ma neurotransmitters monga epinephrine, norepinephrine, ndi dopamine. PKU imayambitsidwa ndi vuto mu jini lomwe limathandizira kupanga phenylalanine hydroxylase. Enzyme iyi ikasowa, thupi lanu silingathe kuwononga phenylalanine. Izi zimayambitsa kuchuluka kwa phenylalanine mthupi lanu.

Ana ku United States amayesedwa PKU atangobadwa. Izi sizachilendo mdziko muno, zimangokhudza mwana m'modzi mwa ana 10,000 kapena 15,000 akhanda chaka chilichonse. Zizindikiro zazikulu za PKU ndizosowa ku United States, popeza kuwunika koyambirira kumalola kuti mankhwala ayambe akangobadwa. Kuzindikira koyambirira ndi chithandizo kumatha kuthana ndi vuto la PKU ndikupewa kuwonongeka kwa ubongo.

Zizindikiro za phenylketonuria

Zizindikiro za PKU zimatha kukhala zofewa mpaka zovuta. Matenda ovuta kwambiri amtunduwu amadziwika kuti PKU wakale. Khanda lomwe lili ndi PKU yowoneka bwino limawoneka ngati labwinobwino kwa miyezi ingapo yoyambirira ya moyo wawo. Ngati mwanayo sanalandire chithandizo cha PKU panthawiyi, ayamba kukhala ndi izi:

• kugwidwa
• kunjenjemera, kapena kunjenjemera ndikugwedezeka
• kukula kochepa
• kusakhudzidwa
• mikhalidwe ya khungu monga chikanga
• fungo labwino la mpweya wawo, khungu lawo, kapena mkodzo wawo

Ngati PKU sichipezeka pobadwa ndipo chithandizo sichinayambike mwachangu, vutoli limatha kuyambitsa:

• kuwonongeka kwaubongo komwe sikungasinthike komanso kufooka kwamaganizidwe mkati mwa miyezi ingapo yoyambirira
• zovuta zamakhalidwe ndi khunyu mwa ana okulirapo

Mtundu wocheperako wa PKU umatchedwa PKU kapena non-PKU hyperphenylalaninemia. Izi zimachitika mwana akakhala ndi phenylalanine wambiri mthupi lawo. Makanda omwe ali ndi matendawa amatha kukhala ndi zizindikilo zochepa chabe, koma amafunika kutsatira chakudya chapadera kuti ateteze kulumala kwa nzeru.

Chakudya chapadera ndi chithandizo china chofunikira chikayambika, zizindikilo zimayamba kuchepa. Anthu omwe ali ndi PKU omwe amayang'anira bwino zakudya zawo nthawi zambiri sawonetsa zizindikiro zilizonse.

Zimayambitsa phenylketonuria

PKU ndi mkhalidwe wobadwa nawo womwe umayambitsidwa ndi chilema mumtundu wa PAH. Mtundu wa PAH umathandizira kupanga phenylalanine hydroxylase, enzyme yomwe imayambitsa kuphwanya phenylalanine. Phenylalanine amatha kuwonjezeka ngati wina adya zakudya zamapuloteni, monga mazira ndi nyama.

Makolo onse awiri ayenera kupereka cholakwika cha mtundu wa PAH kuti mwana wawo adzalandire vutoli. Ngati kholo limodzi likadutsa jini losinthidwa, mwanayo sadzakhala ndi zisonyezo zilizonse, koma adzakhala wonyamula jini.

Momwe amadziwika

Kuyambira zaka za m'ma 1960, zipatala ku United States zakhala zikuyang'ana ana ongobadwa kumene PKU potenga magazi. Dokotala amagwiritsa ntchito singano kapena lancet kuti atenge madontho pang'ono a magazi pachidendene cha mwana wanu kuti ayese PKU ndi matenda ena amtundu.

Kuyezetsa kumachitika mwana ali ndi tsiku limodzi kapena masiku awiri ndikukhalabe mchipatala. Ngati simukubereka mwana wanu kuchipatala, muyenera kukonzekera kuyezetsa ndi dokotala wanu.

Mayeso owonjezera atha kuchitidwa kuti atsimikizire zotsatira zoyambirira. Mayesowa amafufuza kupezeka kwa kusintha kwa majini a PAH komwe kumayambitsa PKU. Mayesowa nthawi zambiri amachitika mkati mwa milungu isanu ndi umodzi atabadwa.

Ngati mwana kapena wamkulu akuwonetsa zizindikiro za PKU, monga kuchedwa kukula, dokotala amalamula kuti akayezetse magazi kuti atsimikizire kuti ali ndi vutoli. Kuyesaku kumaphatikizapo kutenga magazi ndi kuwunika ngati pali michere yofunikira kuti iwononge phenylalanine.

Njira zothandizira

Anthu omwe ali ndi PKU amatha kuthana ndi zovuta zawo ndikupewa zovuta potsatira zakudya zapadera komanso kumwa mankhwala.

Zakudya

Njira yayikulu yochizira PKU ndi kudya chakudya chapadera chomwe chimachepetsa zakudya zomwe zili ndi phenylalanine. Ana omwe ali ndi PKU amatha kudyetsedwa mkaka wa m'mawere. Nthawi zambiri amafunikanso kudya chilinganizo chapadera chotchedwa Lofenalac. Mwana wanu akadzakula mokwanira kuti adye zakudya zolimba, muyenera kupewa kuti azidya zakudya zomanga thupi. Zakudya izi ndi izi:

• mazira
• tchizi
• mtedza
• mkaka
• nyemba
• nkhuku
• ng'ombe
• nkhumba
• nsomba

Kuti awonetsetse kuti alandirabe mapuloteni okwanira, ana omwe ali ndi PKU amafunika kudya chilinganizo cha PKU. Muli ma amino acid onse omwe thupi limafunikira, kupatula phenylalanine. Palinso mapuloteni otsika, zakudya zopatsa thanzi za PKU zomwe zimapezeka m'masitolo apadera.

Anthu omwe ali ndi PKU adzayenera kutsatira zoletsa izi ndikudya njira ya PKU m'miyoyo yawo yonse kuti athe kuthana ndi zizolowezi zawo.

Ndikofunikira kudziwa kuti mapulani a PKU akudya amasiyanasiyana munthu ndi munthu. Anthu omwe ali ndi PKU amafunika kugwira ntchito limodzi ndi adotolo kapena akatswiri azakudya kuti azikhala ndi michere yokwanira pochepetsa kuchepa kwa phenylalanine. Ayeneranso kuwunika milingo yawo ya phenylalanine posunga kuchuluka kwa phenylalanine muzakudya zomwe amadya tsiku lonse.

Nyumba zamalamulo zina zakhazikitsa ndalama zomwe zimapereka inshuwaransi pazakudya ndi njira zofunika kuchiritsa PKU. Funsani nyumba yamalamulo yanu komanso kampani ya inshuwaransi yazachipatala kuti mudziwe ngati mungapeze izi. Ngati mulibe inshuwaransi ya zamankhwala, mutha kufunsa ndi madipatimenti azachipatala kwanuko kuti muwone njira zomwe zingakuthandizeni kupeza ndalama za PKU.

Mankhwala

United States Food and Drug Administration (FDA) posachedwapa idavomereza sapropterin (Kuvan) yothandizira PKU. Sapropterin imathandizira kutsika kwa phenylalanine. Mankhwalawa ayenera kugwiritsidwa ntchito limodzi ndi dongosolo lapadera la chakudya cha PKU. Komabe, sizigwira ntchito kwa aliyense amene ali ndi PKU. Ndizothandiza kwambiri kwa ana omwe ali ndi vuto la PKU.

Mimba ndi phenylketonuria

Mkazi yemwe ali ndi PKU atha kukhala pachiwopsezo cha zovuta, kuphatikiza kupita padera, ngati satsatira dongosolo la chakudya cha PKU pazaka zawo zobereka. Palinso mwayi woti mwana wosabadwayo adzawonetsedwa ndi phenylalanine. Izi zitha kubweretsa zovuta zosiyanasiyana mumwana, kuphatikiza:

• olumala
• zopindika mtima
• kukula kochedwa
• kulemera kochepa kubadwa
• mutu wawung'ono modabwitsa

Zizindikirozi sizimawonekera msanga mwa mwana wakhanda, koma adotolo amayesa mayeso kuti aone ngati ali ndi zovuta zamankhwala zomwe mwana wanu angakhale nazo.

Kuwona kwakanthawi kwa anthu omwe ali ndi phenylketonuria

Kuwona kwakanthawi kwa anthu omwe ali ndi PKU ndikwabwino ngati angatsatire dongosolo la chakudya cha PKU pafupi komanso atangobadwa kumene. Ngati matenda ndi chithandizo zichedwa, kuwonongeka kwa ubongo kumatha kuchitika. Izi zitha kubweretsa kulumala m'maganizo ndi chaka choyamba cha mwana. PKU yosachiritsidwa ingathenso kuyambitsa:

• kuchedwa chitukuko
• mavuto amakhalidwe ndi malingaliro
• mavuto amitsempha, monga kunjenjemera ndi kugwidwa

Kodi phenylketonuria ingapewe?

PKU ndi chibadwa, choncho sichingapeweke. Komabe, kuyesa kwa enzyme kumatha kuchitidwa kwa anthu omwe akufuna kukhala ndi ana. Kuyesa kwa enzyme ndikuyesa magazi komwe kumatha kudziwa ngati wina ali ndi jini lolakwika lomwe limayambitsa PKU. Mayesowa amathanso kuchitidwa panthawi yapakati kuti muwonetse ana osabadwa a PKU.

Ngati muli ndi PKU, mutha kupewa zizindikiro potsatira dongosolo lanu la chakudya cha PKU pamoyo wanu wonse.