Phenylketonuria (Pku)

Phenylketonuria (fen-ul-key-toe-NU-ree-uh), inozivikanwawo sePKU, chirwere chisingawanzo chiri chose chinogona kuwanikwa kubva kuvabereki, chinoita kuti amino acid inonzi phenylalanine iunganidzwe mumuviri. PKU inokonzerwa nechinhu chakachinja muchiitiko che phenylalanine hydroxylase (PAH). Ichi chiitiko chinoita kuti pave ne enzyme inodiwa pakuputsa phenylalanine.

Pasina enzyme inodiwa pakuputsa phenylalanine, kuunganidzwa kunotyisa kunogona kuitika kana munhu ane PKU akadya zvokudya zvine protein kana kudya aspartame, sweetener yakagadzirwa. Izvi zvinogona kutungamirira pakupedzisira kumatambudziko ehutano akakomba.

Kwese kwoupenyu hwavo, vanhu vane PKU — vacheche, vana nevakuru — vanofanira kutevera kudya kunodzora phenylalanine, iyo inowanikwa zvikuru muzvokudya zvine protein. Mishonga mitsva inogona kubvumira vamwe vanhu vane PKU kudya kudya kunowanikwa phenylalanine yakawanda kana isina muganho.

Vacheche vari kuUnited States nemamwe nyika mazhinji vanoongororwa kuti vaone kana vane PKU nekukurumidza mushure mekuberekwa. Kunyangwe pasina mushonga wePKU, kuziva PKU uye kutanga kurapwa nekukurumidza kunogona kubatsira kudzivirira kushomeka munzvimbo dzekufunga, kunzwisisa uye kutaurirana (kushaya pfungwa) nematambudziko makuru ehutano.

Vachecheche dzine dzine PKU pakutanga hazvina zviratidzo. Zvisinei, pasina kurapwa, vana kazhinji vanoita zviratidzo zvePKU mukati memwedzi mishoma.

Zviratidzo nezviratidzo zvePKU isina kurapwa zvinogona kunge zviri nyoro kana kuti zvakakomba uye zvinogona kusanganisira:

• Kunhuhwirira kwakashata mumuromo, ganda kana weti, kunokonzerwa nephenylalanine yakawanda mumuviri
• Matambudziko esimba rekuona (neurological) anogona kusanganisira kuita manyoka
• Maronda eganda, akadai seeczema
• Ganda rakachena, bvudzi nevara remaziso kupfuura nhengo dzemhuri, nekuti phenylalanine haigone kuchinja kuita melanin - pigment inokonzera bvudzi nevara reganda
• Saizi yemusoro mudiki zvisina kujairika (microcephaly)
• Hyperactivity
• Kushaya pfungwa
• Kukura kwakaremara
• Matambudziko ehupenyu, manzwiro uye zvemagariro
• Matambudziko ehutano hwepfungwa

Kukomba kwePKU kunoenderana nerudzi.

• PKU yepakutanga. Rudzi rwakakomba zvikuru rechirwere icho chinonzi classic PKU. Enzyme inodiwa pakuputsa phenylalanine haina kana kuti yakaderedzwa zvakanyanya. Izvi zvinoita kuti pave nemazinga epamusoro ephenylalanine anogona kukonzera kukuvara kukuru kwepfungwa.
• Mhando dzisina kukomba dzePKU. Mumhando dzakapfava kana dzakati siyanei, enzyme ichiri kushanda, saka mazinga ephenylalanine haasi akakwirira, zvichiguma nekuoma kwakaderera kwekuvadza kwepfungwa kukuru.

Pasinei nerudzi, vana vazhinji, vana nevakuru vane chirwere ichi vachiri kuda kudya kwakasarudzika kwePKU kudzivirira kushaya pfungwa nezvimwe zvinetso.

Vakadzi vane PKU uye vanova nepamuviri vari pangozi yemhando imwe yechirwere inonzi maternal PKU. Kana vakadzi vasingateveri kudya kwakasarudzika kwePKU usati wava nepamuviri uye panguva yepamuviri, mazinga ephenylalanine eropa anogona kukwira uye kukuvadza mwana ari kukura.

Kunyangwe vakadzi vane mhando dzisina kukomba dzePKU vanogona kuisa vana vavo vasati vazvarwa pangozi nekusaitevera kudya kwePKU.

Vana vanozvarwa kuvakadzi vane mazinga epamusoro ephenylalanine kazhinji havawirirani nePKU. Asi mwana anogona kuva nematambudziko akakomba kana chiyero chephenylalanine chiri chakakwirira muropa remai panguva yepamuviri. Pakuvapo, mwana anogona kuva ne:

• Kurema kwakaderera pakuvapo
• Musoro mudiki zvisina kujairika
• Matambudziko nemwoyo

Uyezve, maternal PKU inogona kukonzera mwana kuva nekukura kwakaremara, kushaya pfungwa uye matambudziko ehupenyu.

'Taura nachiremba wako ezviitiko izvi:\n- Vacheche Vachangoberekwa. Kana bvunzo dzekuongorora vacheche dzakajairwa dzikaratidza kuti mwana wako angave ane PKU, chiremba wemwana wako achatsvaga kutanga kurapwa kwekudya nekukurumidza kudzivirira matambudziko emangwana.\n- Vakadzi vane makore ekubereka. Zvakakosha zvikuru kuvakadzi vane nhoroondo yePKU kuona chiremba uye kuchengetedza kudya kwePKU vasati vava nepamuviri uye panguva yepamuviri. Izvi zvinoderedza njodzi yematambudziko ekukwirira kwe phenylalanine muropa kukuvadza vana vavo vasingaberekwe.\n- Vakuru. Vanhu vane PKU vanoda kutarisirwa kwenguva yese yehupenyu hwavo. Vakuru vane PKU vakarega kudya kwePKU panguva yavo yechirove vanogona kubatsirwa nekushanya kune vachiremba vavo. Kudzoka pakudya kunogona kuvandudza kushanda kwepfungwa nehunhu uye kudzivirira kukuvara kunowedzera kune tsinga huru kunogona kubva pakukwirira kwe phenylalanine muropa.'

Kuti munhu ave nedambudziko rinopfuudzwa nemafuro maviri (autosomal recessive disorder), anofanira kugara nhaka majini maviri akachinja, dzimwe nguva anonzi mutations. Anowana rimwe kubva kuna mai nemumwe kubva kuna baba. Utano hwavo hahuwanzo kukanganiswa nekuti vane gene rimwe chete rachinja. Vabereki vaviri vane gene rachinja vane mukana we25% wekuve nevana vasina chirwere ichi vane majini maviri asina kuchinja. Vane mukana we50% wekuve nevana vasina chirwere ichi asi vane gene rimwe rachinja. Vane mukana we25% wekuve nevana vane chirwere ichi vane majini maviri akachinja.

Kuchinja kwegene (genetic mutation) kunokonzera PKU, iyo inogona kuva yakapfava, yepamusoro kana yakakomba. Mumunhu ane PKU, kuchinja kwegene re phenylalanine hydroxylase (PAH) kunokonzera kushayikwa kana kuderedzwa kwe enzyme inodiwa pakugadzirisa phenylalanine, amino acid.

Kuunganidzwa kwakawanda kwephenylalanine kunogona kuitika kana munhu ane PKU akadya zvokudya zvine protein yakawanda, senge mukaka, chizi, nati kana nyama, kana zviyo senge chingwa nepasta, kana aspartame, sweetener yakagadzirwa.

Kuti mwana agare nhaka PKU, amai nababa vose vanofanira kuva negene rachinja ndokuripasa. Nzira iyi yekugara nhaka inonzi autosomal recessive.

Zvinogoneka kuti mubereki ave mutariri — kuva negene rachinja rinokonzera PKU, asi asina chirwere ichocho. Kana mubereki mumwe chete ane gene rachinja, hapana njodzi yekupasa PKU kumwana, asi zvinogoneka kuti mwana ave mutariri.

Kazhinji kazhinji, PKU inopfuudzwa kuvana ne vabereki vaviri vari vatori vegene rachinja, asi havazvizive.

Zvinokonzera ngozi yekutakura PKU zvinosanganisira:

• Kuti vabereki vese vane shanduko yegene inokonzera PKU. Vabereki vaviri vanofanirwa kupfuudza kopi yeshanduko yegene kuti mwana wavo awane chirwere ichi.
• Kuva nerudzi kana rudzi rwakati. PKU inokanganisa vanhu vemarudzi mazhinji pasi rese. Asi kuUnited States, inowanzoitika kune vanhu vechitendero cheEurope uye isingawanzoitika kune vanhu vechitendero cheAfrica.

PKU isina kurapwa inogona kukonzera matambudziko muvana vacheche, vana nevakuru vane chirwere ichi. Kana vakadzi vane PKU vakasangana nemazinga epamusoro eropa phenylalanine panguva yekuzvitakura, zvinogona kukuvadza mwana wavo asati azvarwa.

PKU isina kurapwa inogona kukonzera:

• Kukuvadzwa kwusingaperi kwepfungwa nekuremara kukuru kwepfungwa kunotanga mukati memwedzi mishoma yekutanga yehupenyu
• Matambudziko ane chekuita nehurongwa hwemanyuchi senge kurwadziwa nemusoro nekudedera
• Matambudziko ehutano, ehumanji neesangano muvana vakura nevakuru
• Matambudziko makuru ehutano nekukura

Kana uine PKU uye uri kufunga nezvekubata pamuviri:

• Tevedza kudya kwakaderera phenylalanine. Vakadzi vane PKU vanogona kudzivirira kukuvadzwa kumwana wavo ari kukura nekutevedza kana kudzokera pakudya kwakaderera phenylalanine usati wabata pamuviri. Zvokudya zvinowedzerwa zvakagadzirirwa vanhu vane PKU zvinogona kuve nechokwadi chekuti pane mapuroteni akawanda nezvokudya panguva yekubata pamuviri. Kana uine PKU, taura nachiremba wako usati watanga kuedza kubata pamuviri.
• Funga nezvekurairwa kwemajini. Kana uine PKU, hama yepedyo ine PKU kana mwana ane PKU, unogona kubatsirwa nekurairwa kwemajini usati wabata pamuviri. Nyanzvi mune zvemajini emurapa (geneticist) inogona kukubatsira kunzwisisa zviri nani kuti PKU inopfuudzwa sei mumhuri yako. Nyanzvi iyi inogonawo kubatsira kuona njodzi yako yekuve nemwana ane PKU uye kubatsira pakuronga mhuri.

Kutarisa utano hwemwana achangoberekwa kunoratidza zviitiko zvose zve phenylketonuria. Nyika dzose 50 muUnited States dzinoda kuti vacheche vatsvagwe PKU. Nyika dzakawandawo dzinoongorora vacheche zve PKU nguva dzose. Kana uine PKU kana nhoroondo yemhuri yacho, chiremba wako anogona kukurudzira bvunzo dzekuongorora usati otanga pamuviri kana kuberekwa. Zvinokwanisika kuziva vanotakura PKU kuburikidza ne bvunzo yeropa. Bvunzo yePKU inoitirwa zuva rimwe kana maviri mushure mekuberekwa kwemwana wako. Kuti uwane mhinduro dzakakwana, bvunzo inoitirwa mushure mekunge mwana wako ava neaawa makumi maviri nemana uye mushure mekunge mwana wako adya mapuroteni mune zvokudya. - Musiyano kana mushandi we laboratori anounganidza madonhwe mashoma eropa kubva pahuro hwemwana wako. - Laboratori inoongorora sampuli yeropa kuti ione zvirwere zvekushanduka kwezvinhu, kusanganisira PKU. - Kana usingaberekere mwana wako muchipatara kana kubudiswa nekukurumidza mushure mekuberekwa, ungada kuronga kuongororwa kwemwana achangoberekwa nechiporeso cheutano hwako. Kana bvunzo iyi ikaratidza kuti mwana wako angave aine PKU: - Mwana wako angave aine bvunzo dzakawanda kuti aone chirwere chacho, kusanganisira bvunzo dzakawanda dzeropa nebvunzo dzemukombero - Iwe nemwana wako mungave nebvunzo yemajini kuti muone shanduko yegene yePKU

Kutanga kurapwa pakutanga nekuramba uchirapwa kweupenyu hwese kunogona kubatsira kudzivirira kushaya pfungwa nekukanganisika kukuru kwehutano. Kurapwa kukuru kwePKU kunosanganisira:

• Kudya kweupenyu hwese kwakaderera kwazvo mune zvokudya zvine phenylalanine
• Kutora fomula yePKU — chiwedzerwa chekudya chakakosha — kweupenyu hwese kuve nechokwadi chekuti unowana mapuroteni akakwana (asina phenylalanine) nezvinovaka muviri zvakakosha kukura nehutano hwese
• Mishonga, kune vamwe vanhu vane PKU Chiyero chakachengeteka chephenylalanine chinosiyana kune munhu wese ane PKU uye chinogona kuchinja nekufamba kwenguva. Kazhinji, pfungwa ndeyekudya phenylalanine chete inodiwa kukura kwakanaka nemabasa emuviri, asi kwete kupfuura. Mupi wehutano hwako anogona kuona huwandu hwakachengeteka kuburikidza ne:
• Kuongorora kazhinji zvinyorwa zvechikafu nemachati ekukura
• Kuongororwa neropa kazhinji kunoongorora mazinga eropa ephenylalanine, kunyanya panguva yekukura kwevana nepakusununguka
• Kuongororwa kwakasiyana-siyana kunoongorora kukura, kuvandudzika nehutano Mupi wehutano hwako anogona kukutuma kune registered dietitian anogona kukubatsira kudzidza nezvekudya kwePKU, kuita shanduko pakudya kwako kana zvichidiwa, uye kupa mazano pane nzira dzekutonga matambudziko ekudya kwePKU. Nekuda kwehuwandu hwakaderera hwephenylalanine hunogona kudyiwa nemunhu ane PKU, zvakakosha kudzivisa zvokudya zvese zvine mapuroteni akawanda, zvakadai se:
• Mukaka
• Mazai
• Chizi
• Nzungu
• Zvigadzirwa zveSoy, zvakadai se soya beans, tofu, tempeh ne mukaka
• Nyemba nepea
• Shiri, nyama yemombe, nyama yenguruve nedzimwe nyama
• Hove Mabhanana, zviyo nezvimwe miriwo zvinogona kuderera. Vana nevakuru vanofanirwa kudzivisa zvimwe zvokudya nezvinwiwa, kusanganisira zvinwiwa zvakawanda zvisina shuga nezvimwe zvinwiwa zvine aspartame (NutraSweet, Equal). Aspartame ndiyo sweetener yakagadzirwa ine phenylalanine. Mishonga mimwe inogona kuva neaspartame uye mamwe mavhitamini kana zvimwe zviwedzerwa zvinogona kuva neamino acids kana mukaka wakasvibiswa. Bvunza chiremba wemishonga nezve zviri mukati mezvigadzirwa zvisina kuraira uye mishonga yakarayirwa. Taura nemupi wehutano hwako kana registered dietitian kuti udzidze zvakawanda nezve zvaunoda zvekudya. Nekuda kwekudya kwakaderedzwa, vanhu vane PKU vanoda kuwana zvinovaka muviri kuburikidza nechiwedzerwa chekudya chakakosha. Fomula isina phenylalanine inopa mapuroteni akakosha (amino acids) nezvimwe zvinovaka muviri munzira yakachengeteka kune vanhu vane PKU. Mupi wehutano hwako ne dietitian vanogona kukubatsira kuwana rudzi rwakakodzera rwefomula.
• Fomula yemababy nevana vaduku. Nekuti fomula yemababy yakajairika ne mukaka wemubereki ine phenylalanine, mababy ane PKU anoda fomula yemababy isina phenylalanine. Dietitian anogona kuverenga zvakanyatsonaka huwandu hwemukaka wemubereki kana fomula yakajairika kuwedzerwa mufomula isina phenylalanine. Dietitian anogona kudzidzisawo vabereki maitiro ekusarudza zvokudya zvakasimba pasina kupfuura huwandu hwephenylalanine hwemwana pazuva.
• Fomula ye vana vakuru nevakuru. Vana vakuru nevakuru vanoramba vachinwa kana kudya chiwedzerwa chekudya chisina phenylalanine (mapuroteni akaenzana fomula), sezvakarayirwa nemupi wehutano kana dietitian. Dose yako yezuva nezuva yefomula inoparadzaniswa pakati pezvokudya zvako nezvinwiwa, panzvimbo yekudyiwa kana kunwiwa kamwe chete. Fomula ye vana vakuru nevakuru haisi yakafanana neyinoshandiswa kune madiki, asi inopawo mapuroteni akakosha asina phenylalanine. Fomula inoramba ichishandiswa kweupenyu hwese. Kuda chiwedzerwa chekudya, kunyanya kana iwe kana mwana wako asingazvifariri, uye kusarudzwa kwezvokudya kwakaderera kunogona kuita kuti kudya kwePKU kuve kwakaoma. Asi kuita chivimbo chakasimba pakushanduka uku kwehupenyu ndiyo nzira chete yekudzivirira matambudziko ehutano akakomba anogona kuitika kune vanhu vane PKU. Food and Drug Administration (FDA) yakabvumira mushonga sapropterin (Kuvan) kurapa PKU. Mushonga unogona kushandiswa pamwe chete nekudya kwePKU. Vamwe vanhu vane PKU vanotora mushonga vangasafanirwa kutevera kudya kwePKU. Asi mushonga haushande kune munhu wese ane PKU. FDA yakabvumirawo kurapwa kwakasiyana kwemishonga, pegvaliase-pqpz (Palynziq), kune vakuru vane PKU kana kurapwa kwazvino kusina kuderedza zvakakwana huwandu hwephenylalanine. Asi nekuda kwezviitiko zvakawanda zvinokanganisa, izvo zvinogona kuva zvakakomba, kurapwa uku kunowanikwa chete sechikamu chechirongwa chakaomeswa pasi pekutarisirwa kwevanachiremba vakanyoreswa.

Zanoano dzekuita kuti PKU iongororwe dzinosanganisira kuchengeta zvokudya zvakadyiwa, kuyeresa zvakanaka, uye kuva nepfungwa dzakasiyana. Kufanana nezvimwe zvinhu, kana zano iri richishandiswa, unogona kuwana rugare uye kuvimbika.

Kana iwe kana mwana wako uchitevera kudya kwakaderera phenylalanine, iwe uchafanirwa kuchengeta marekodhi ezvokudya zvakadyiwa zuva nezuva.

Kuti uve nechokwadi, yera chikamu chezvokudya uchishandisa makiyi nemaspuni ekukomba uye chiyereso chekicheni chinoratidza magiramu. Huwandu hwezvokudya hunoyenzaniswa nechirongwa chezvokudya kana kushandiswa kuverenga huwandu hwe phenylalanine inodyiwa zuva nezuva. Kudya kwese nechikafu chinosanganisira chikamu chakakodzera chefomula yako yePKU yezuva nezuva.

Makaseti ezvokudya, mapurogiramu ekombuta uye mapurogiramu esmarthphone anowanikwa anoratidza huwandu hwe phenylalanine mune zvokudya zvevana, zvokudya zvakasimba, mafomula ePKU, nezvinhu zvakajairika zvekubika.

Kuronga kudya kana kutenderera kwezvokudya zvinozivikanwa kunogona kubatsira kuderedza kumwe kutevera zuva nezuva.

Taunza nemunyori wako wezvokudya kuti uwane kuti ungava sei nepfungwa dzakasiyana nezvokudya kuti ukwanise kuramba uri munzira. Semuenzaniso, shandisa zvinonhuwira uye nzira dzakasiyana dzekubika kuti uchinje miriwo yakaderera phenylalanine kuita menyu yakazara yezvokudya zvakasiyana. Zvinonhuwira nezvinonaka zvakaderera phenylalanine zvinogona kuva nezvinonaka zvakawanda. Yeuka kungayeresa uye kuverenga chinhu chega chega uye kugadzirisa marezipi kune kudya kwako kwakakosha.

Kana uine zvimwe zvirwere, unogona zvakare kuzofunga izvozvo paunenge uchironga kudya kwako. Taura nachiremba wako kana munyori wezvokudya kana uine mibvunzo.

Kurarama nePKU kunogona kuva kunonetsa. Aya mazano anogona kubatsira:

• Dzidza kubva kumhuri dzakasiyana. Bvunza chiremba wako nezvemapoka ekutsigira munzvimbo kana pamhepo evanhu vanorarama nePKU. Kutaura nevamwe vanokunda matambudziko akafanana kunogona kubatsira. National PKU Alliance chikwata chekutsigira pamhepo chemhuri nevakuru vane PKU.
• Tora rubatsiro pakuronga menyu. Munyori wezvokudya akanyoreswa ane ruzivo muPKU anogona kukubatsira kugadzira kudya kwemanheru kwakanaka kwakaderera phenylalanine. Munyori wako wezvokudya anogonawo kuva nepfungwa dzakanaka dzekudya kwezororo nemazuva ekuberekwa.
• Ronga usati wadya kunze. Kudya kuresitorendi yemunharaunda kunokupa zororo kubva kukicheni uye kunogona kuva kunonakidza kune mhuri yese. Nzvimbo dzakawanda dzinopfumisa chimwe chinhu chinokodzera kudya kwePKU. Asi ungada kufona usati wabvunza nezve menyu kana kuunza zvokudya kubva kumba.
• Usanyanya kufunga nezvekudya. Kuita nguva yekudya kuva nguva yemhuri kunogona kubvisa kutarisa pakudya. Edza kutaura nemhuri kana mitambo panguva yekudya. Kurudzira vana vane PKU kuti vatarisire mitambo, mimhanzi kana zvinofadza, kwete pane zvavanogona uye zvavanogona kudya. Fungawo nezvekugadzira tsika dzezororo dzinoenderana nezvirongwa zvakakosha nemabasa, kwete chete zvokudya.
• Rega mwana wako abatsire kutonga kudya nekukurumidza sezvinobvira. Vana vaduku vanogona kusarudza kuti ndechipi chingwa, michero kana miriwo zvavanoda kudya uye kubatsira kuyera zvikamu. Vanogona zvakare kuzvibatsira nezvikamu zvakayerwa kare. Vana vakuru vanogona kubatsira pakuronga menyu, kuisa masangweji avo uye kuchengeta marekodhi avo ezvokudya.
• Gadzira rondedzero yako yezvokudya uye zvokudya nemhuri yese mupfungwa. Kabhodhi yakazara nezvokudya zvakarambidzwa inogona kunge ichikwezva mwana kana mukuru ane PKU, saka edza kutarisa pazvokudya zvese zvinogona kudyiwa. Shandisa miriwo yakakangwa yakaderera muprotein. Kana nhengo dzemhuri dzichida, vanogona kuwedzera mazambiringa, chibage, nyama uye mupunga. Kana kuisa saladhi bar ine sarudzo dzeprotein yakaderera uye yakakwana-protein. Unogona zvakare kupa mhuri yese supuni inonaka yakaderera phenylalanine kana curry.
• Gadzirira potlucks, picnics uye zvitima. Ronga usati watanga, saka pane nguva dzose sarudzo yekudya yePKU. Pakira zvokudya zvemichero mitsva kana makeki akaderera protein. Tora michero kebabs kana miriwo skewers kuenda kukudyira, uye gadzira saladhi yakaderera phenylalanine kune potluck yemunharaunda. Vamwe vabereki, shamwari nemhuri vanogona kugadzirisa uye kubatsira kana ukatsanangura zvipingamupinyi zvechikafu.
• Taura nevadzidzisi nevashandi vamwe mune chikoro chemwanakomana wako. Vadzidzisi vemwanakomana wako nevashandi vechikafu chechikoro vanogona kubatsira zvikuru nekudya kwePKU kana ukatora nguva yekutsanangura kukosha kwayo uye mashandiro ayo. Nekushanda nevadzidzisi vemwanakomana wako, unogona zvakare kuronga usati watanga zviitiko zvakakosha zvechikoro nemapati kuitira kuti mwana wako ave nechikafu chekudya nguva dzose.