Phenylketonuria Chii? Zviratidzo, Zvinokonzera, Nekurapa

Phenylketonuria, inowanzonzi PKU, chirwere chisingawanzoitika chemagene umo muviri wako usingakwanisi kuputsa amino acid inonzi phenylalanine. Iyi amino acid inowanikwa muzvokudya zvakawanda zvine protein senyama, mazai, nezvigadzirwa zvemukaka.

Kana munhu ane PKU, phenylalanine inoungana muropa rake uye inogona kukuvadza uropi kana ikasabatwa. Mashoko akanaka ndeakuti nekutsvaga kwakakurumidza kuburikidza nekutarisa vana vachangoberekwa nekutarisira kwakakodzera kwezvokudya, vanhu vane PKU vanogona kurarama hupenyu hunowanzoitika, hune utano.

Phenylketonuria Chii?

PKU inoitika kana muviri wako usingakwanisi kana uine enzyme shoma inonzi phenylalanine hydroxylase. Funga nezve iyi enzyme semushandi chaiwo ane basa rekushandura phenylalanine kuita imwe amino acid inonzi tyrosine iyo muviri wako unogona kushandisa zvakanaka.

Pasina enzyme yakakwana, phenylalanine inoungana muropa rako nemuviri. Mamazinga epamusoro ephenylalanine ane chepfu kumasero europi, kunyanya panguva yekuzvarwa nehudiki apo uropi ruchiri kukura.

PKU inokanganisa vana vangangosvika 1 pamunhu 10,000 kusvika ku15,000 vanozvarwa muUnited States. Iripo kubva pakuzvarwa uye rinoda kutarisirwa kweupenyu hwese, asi nekutarisira kwakakodzera, harifaniri kukutadzisa zvaunogona kuita muhupenyu.

Zviratidzo zvePhenylketonuria Ndezvipi?

Vana vanozvarwa vane PKU vanowanzotaridzika zvakanaka pakuzvarwa. Zvisinei, zviratidzo zvinogona kuoneka mukati memwedzi mishoma kana chirwere chichigara chisingazivikanwi uye chisingarapwi.

Aya ndiwo maratidzo ekutanga anogona kuoneka muvana vacheche vane PKU isina kurapwa:

• Kushaya pfungwa kunova pachena nekufamba kwenguva
• Kukura kwakaremara pakugara, kukambaira, kana kufamba
• Matambudziko ehutano senge hyperactivity kana hasha
• Kuita zvekuvhiringika kana kudedera
• Maronda eganda kana eczema
• Kunhuhwirira kwakashata senge kunhuhwirira kwemouse kubva mumuromo, ganda, kana weti
• Ganda rakajeka nebvudzi nekuda kwekuderedzwa kwe melanin
• Musoro mudiki pane vamwe vana vane makore akafanana

Kunhuhwirira kwakashata kunoitika nekuti phenylalanine yakawandisa inoshandurwa kuita zvimwe zvinhu izvo muviri wako unobvisa kuburikidza ne weti neperspiration. Aya maratidzo anogona kudzivirirwa kana PKU yakawanikwa nekukurumidza uye yakaraparwa zvakanaka.

Muimwe nguva, vanhu vanogona kuva nePKU yakapfava isingakonzere zviratidzo zvakakomba asi ichiri kuda kutarisirwa kwezvokudya. Ndosaka kuongororwa kwevana vachangoberekwa kwakakosha pakutsvaga marudzi ese echirwere ichi.

Marudzi ePhenylketonuria Ndezvipi?

PKU haisi chirwere chimwe chete asi inosanganisira zvirwere zvakawanda zvine hukama zvinoita kuti muviri wako ushandise phenylalanine. Musiyano mukuru pakati pemarudzi ndewokuti enzyme yakawanda yakasara mumuviri mako.

Classic PKU ndiyo yakakomba zvikuru, umo une enzyme shoma kana isina phenylalanine hydroxylase. Vanhu vane classic PKU vanofanira kutevera kudya kwakaderera kwephenylalanine kweupenyu hwavo hwese.

PKU yakapfava kana hyperphenylalaninemia isina PKU inoitika kana uine enzyme yakawanda yakasara. Ungada kuchinja kwezvokudya, asi kazhinji zvinenge zvisinganyanyi kuoma pane zvinodiwa neclassic PKU.

Kunewo rudzi rusingawanzoitika runonzi malignant PKU kana atypical PKU, iyo inosanganisira matambudziko nemamwe ma enzymes anodiwa pakushandisa zvakare cofactor inobatsira phenylalanine hydroxylase kushanda. Uyu rudzi rwakaomera kurapa uye ungasapindure zvakanaka pakuchinja kwezvokudya chete.

Chii Chinokonzera Phenylketonuria?

PKU inokonzerwa nekuchinja (mutations) muPAH gene, iyo inopa mirairo yekugadzira phenylalanine hydroxylase enzyme. Iwe unowana chirwere ichi chemagene kubva kuvabereki vako.

Kuti uve nePKU, unofanira kuwana kopi mbiri dzegene yakachinja, imwe kubva kumubereki mumwe nemumwe. Izvi zvinonzi autosomal recessive inheritance. Kana ukawana kopi imwe chete yakachinja, uri mutariri asi hauzove nePKU iwe pachako.

Kana vabereki vese vari vatariri, pamuviri mumwe nemumwe une mukana we25% wekuita mwana ane PKU, mukana we50% wekuva nemwana mutariri, uye mukana we25% wekuva nemwana asina mutations. Vatariri kazhinji havave nezviratidzo nemamazinga enhengo ephenylalanine.

Kune anopfuura 1,000 mutations dzakasiyana muPAH gene dzakawanikwa. Mamwe mutations anobvisa zvachose basa re enzyme, nepo mamwe achideredza kusvika padanho rakasiyana, izvo zvinotsanangura kuti sei kuomarara kwePKU kunogona kusiyana pakati pevanhu.

Rini Unofanira Kuona Chiremba nePhenylketonuria?

Munyika dzakawanda dzakabudirira, vana vese vachangoberekwa vanoongororwa kuti vaone kana vane PKU mukati memazuva mashomanana ekutanga ehupenyu, saka iwe kazhinji unoziva nezvechirwere icho usati waona zviratidzo. Kana mwana wako akaongororwa kuti ane chirwere ichi, uchaendeswa kune nyanzvi nekukurumidza.

Unofanira kubata nachiremba wako nekukurumidza kana mwana wako akaratidza chero zviratidzo zvekunetseka kukura, kuchinja kwemanzwiro, kana kunhuhwirira kwakashata, kunyanya kana kuongororwa kwevana vachangoberekwa kwakanga kusingaitwi kana uine hanya nezvibvumirano zvekuongorora.

Vakuru vane PKU vanoda kuongororwa nguva dzose kweupenyu hwavo hwese. Bata nachiremba wako kana uri kunetseka kuchengeta kudya kwako, uchinge uchinge uchichinja manzwiro, kana uchinge uchinetseka kuisa pfungwa, sezvo izvi zvingaratidza kuti mazinga ako ephenylalanine akakwira.

Vakadzi vane PKU vari kuronga kuva nepamuviri vanoda kutarisirwa kwakakosha kwechiremba. Mamazinga epamusoro ephenylalanine panguva yepamuviri anogona kukuvadza mwana ari kukura, kunyangwe kana mwana asina PKU.

Zvinokonzera ngozi zvePhenylketonuria Ndezvipi?

Chinokonzera ngozi huru yePKU ndechekuva nevabereki vane mutations muPAH gene. Sezvo PKU ichinakirwa, genetic background yako ndiyo inokosha zvikuru pakutsanangura ngozi yako.

Mamwe mapoka evanhu ane huwandu hwakawanda hwevatariri vePKU. Chirwere ichi chakajairika muvanhu veEuropean descent uye chisingawanzoitika muvanhu veAfrica, Hispanic, kana Asian ancestry, kunyangwe chingaitwa chero rudzi rwevanhu.

Zvinhu zve geographical zvinogona kukanganisawo ngozi. Mamwe mapoka evanhu akagara akaparadzana, senge ari muIreland, ane huwandu hwakawanda hwevatariri nekuda kwezvinonzi geneticists kuti "founder effect."

Kuva nehupenyu hwemhuri hwePKU kana kuva nehukama nemunhu ane chirwere ichi kunowedzera mukana wako wekuva mutariri. Genetic counseling inogona kukubatsira kunzwisisa ngozi yako pachako nezvinhu zvekuronga mhuri.

Matambudziko anogona kuitika ePhenylketonuria Ndezvipi?

Kana PKU yakaraparwa zvakanaka kubva pakuzvarwa, matambudziko mazhinji anogona kudzivirirwa zvachose. Zvisinei, kana ikasabatwa kana isina kutarisirwa zvakanaka, PKU inogona kukonzera matambudziko makuru emangwana.

Chikuru chinonyanya kukomba ndechekushaya pfungwa, izvo zvinogona kuva zvakakomba uye zvisingadzorwi kana mazinga epamusoro ephenylalanine akagara aripo panguva yekukura kweuropi. Izvi kazhinji zvinoitika kana PKU isina kuwanikwa kana kurapwa mukati memwedzi mishoma yekutanga yehupenyu.

Aya ndiwo mamwe matambudziko anogona kuitika ePKU isina kutarisirwa:

• Matambudziko ehutano nepfungwa anosanganisira ADHD, kunetseka, uye kuora mwoyo
• Kuita zvekuvhiringika izvo zvingaoma kudzora
• Kuita zvekudedera nemamwe matambudziko ekufamba
• Kukura kwakaremara nemuviri mudiki pane avhareji
• Matambudziko eganda anosanganisira eczema nemaronda
• Matambudziko emoyo mumamiriro asingawanzoitika
• Matambudziko emwongo nekuwedzera kwenjodzi yekuputsika

Kunyangwe nekutonga kwakanaka kwezvokudya, vamwe vakuru vane PKU vanogona kuve nemigumisiro yakapfava yehuropi kana kuchinja kwemanzwiro kana mazinga avo ephenylalanine asingawanikwi. Kuongororwa nguva dzose kunobatsira kudzivirira aya matambudziko.

Maternal PKU syndrome inyaya yakakomba yevakadzi vane PKU vanova nepamuviri. Mamazinga epamusoro ephenylalanine anogona kukonzera zvikanganiso pakuzvarwa, kushaya pfungwa, nematambudziko emoyo mumwana, pasinei nekunge mwana ane PKU.

Phenylketonuria Inozwiwa Sei?

PKU inonyanya kuzivikanwa kuburikidza nekutarisa vana vachangoberekwa, izvo zvinosanganisira kutora ropa shoma kubva muchiuno chemwana wako mukati memaawa 24 kusvika ku48 mushure mekuberekwa. Kuongororwa uku kunoyerera mazinga ephenylalanine muropa.

Kana kuongororwa kwekutanga kukaratidza mazinga epamusoro ephenylalanine, kuongororwa kwakawedzerwa kunoitirwa kusimbisa chirwere ichi. Izvi zvinogona kusanganisira kuongororwa kweropa kwakawanda, kuongororwa kweweti, nekuongororwa kwemagene kuti uwane mutations chaiyo dzinosanganisirwa.

Vachiremba vanoongororawo mazinga e tyrosine uye vanoverenga phenylalanine-to-tyrosine ratio, iyo inobatsira kuona kuomarara kwechirwere ichi uye kutungamira sarudzo dzekurapa. Dzimwe nguva, kuongororwa kunoitirwa kuyera basa re enzyme zvakananga.

Muimwe nguva apo kuongororwa kwevana vachangoberekwa kwakanga kusingaitwi kana kwakanga kusingazivikanwi, PKU inogona kuzivikanwa gare gare kana zviratidzo zvikaonekwa. Kuongororwa kweropa neweti kunogona kuona mazinga epamusoro ephenylalanine pane chero zera.

Genetic counseling nekuongororwa kwemhuri zvinogona kukurudzirwa kuti uwane vatariri uye kupa ruzivo rwekugadzirira mhuri mune ramangwana.

Kurapa kwePhenylketonuria Chii?

Kurapa kukuru kwePKU ndekutevera kudya kwakarongeka kwakaderera kwephenylalanine kweupenyu hwako hwese. Izvi zvinoreva kuderedza kana kudzivisa zvokudya zvakawanda zveprotein, sezvo protein ine phenylalanine.

Uchaita nebasa nerejistered dietitian ane hunyanzvi muPKU kugadzira chirongwa chekudya chinokwana zvinodiwa nemuviri wako uchichengeta mazinga ephenylalanine munzvimbo yakachengeteka. Izvi kazhinji zvinosanganisira kudya zvibereko, miriwo, nezvokudya zvakakosha zvine protein shoma.

Mafomula ekurapa akakosha uye zvinowedzerwa zvinhu zvakakosha mukurapa kwePKU. Izvi zvinopa protein, mavhitamini, neminerals yaunoda pasina phenylalanine. Vanhu vakawanda vane PKU vanovimba nemafomula aya sesosi yavo huru yeprotein.

Kuongororwa kweropa nguva dzose kwakakosha pakutarisa mazinga ako ephenylalanine uye kugadzirisa kudya kwako sezvinodiwa. Aya kuongororwa kunogona kuitwa vhiki nevhiki muvana vacheche, ipapo zvishoma nezvishoma sezvaunokura uye mazinga ako achizadzika.

Vamwe vanhu vane PKU yakapfava vanogona kubatsirwa nemushonga unonzi sapropterin (Kuvan), iyo inogona kubatsira kuwedzera basa re enzyme yakasara. Zvisinei, mushonga uyu haushande kune munhu wese uye kazhinji unoshandiswa pamwe nekutarisira kwezvokudya.

Kune avo vane PKU yakakomba zvikuru, kurapa kwakawanda senge enzyme replacement therapy negene therapy zviri kuongororwa, kunyangwe izvi zvisati zvawanikwa zvakapararira.

Maitiro ekutarisira PKU pamba?

Kutarisira PKU pamba kunoda kuronga kwakanyatsojeka nekutarisa zvakadzama, asi kunova tsika nekudzidzira. Chinhu chikuru ndechekudzidza kuverenga ma label ezvokudya uye kunzwisisa kuti ndizvipi zvokudya zvakachengeteka kudya.

Chengeta bhuku rezvokudya kuti utevedzere phenylalanine yako uye kubatsira kuziva zviitiko kana mazinga ako eropa akakwira. Vanhu vakawanda vanoona kuti ma smartphone apps anobatsira pakuyera phenylalanine iri muzvokudya.

Gadzira zvokudya usati watanga, uye uve nezvokudya zvakachengeteka zviripo. Izvi zvinobatsira kudzivirira mamiriro aaungada kudya zvokudya zvingakwidza mazinga ako ephenylalanine.

Tora fomula yako yekurapa kana zvinowedzerwa nguva dzose, kunyangwe usina kufarira kuravira. Izvi zvinopa zvinovaka muviri zvausingakwanisi kuwana kubva pakudya kwako kwakaderedzwa chete.

Ungagadzirira sei kuenda kuchipatara?

Usati waenda kuchipatara,unganidza migumisiro yako yekuongororwa kweropa uye bhuku rezvokudya kana uine rimwe. Iyi ruzivo inobatsira timu yako yekurapa kunzwisisa kuti chirongwa chako chekurapa chiri kushanda zvakanaka sei.

Nyora chero zviratidzo zvawave uchiita, kuchinja kwechido chako chekudya, kana matambudziko auri kuita nekudya kwako. Kunyange kuchinja duku kunogona kukosha pakutarisira PKU zvakanaka.

Gadzira rondedzero yemibvunzo nezve kurapa kwako, senge kana kuchinja chero kupi pakudya kwako kungabatsira kana paine mamwe maitiro ekurapa aunofanira kufunga nezvawo.

Kana uri kuronga pamuviri, kutora mishonga mitsva, kana uri kutarisana nekuchinja kukuru muhupenyu, kurukura izvi nechikwata chako chekurapa. Vanogona kukubatsira kugadzirisa chirongwa chako chekurapa zvakakodzera.

Uya nemhuri kana shamwari kana uchida rutsigiro, kunyanya kana uri kukurukura zvisarudzo zvakaoma zvekurapa kana uri kunzwa uchinetseka nekutarisira chirwere chako.

Chii chinonyanya kukosha nezve Phenylketonuria?

PKU chirwere chakakomba chemagene, asi chimwe chezvirwere zvinorapika zvikuru zvinonakirwa kana chakawanikwa nekukurumidza. Nekutarisira kwakakodzera kwezvokudya nekutarisira kwechiremba, vanhu vane PKU vanogona kurarama hupenyu hunowanzoitika, hune utano.

Chinhu chinonyanya kukosha chekuyeuka ndechekuti kuwanikwa kwakakurumidza nekurapa kwenguva dzose kunoita musiyano wose. Nekuda kwezvirongwa zvekuongorora vana vachangoberekwa, vana vazhinji vane PKU vanozivikanwa uye vanorapwa usati waona kukuvara.

Kunyangwe kutevera kudya kwakaderera kwephenylalanine kunoda kutsunga nekugadzirira, zvinogona kuitwa nerutsigiro rwakakodzera nezvinhu. Vanhu vakawanda vane PKU vanoita mabasa anobudirira, vane mhuri, uye vanobatanidzwa zvizere muzvikamu zvese zvehupenyu.

Kana iwe kana munhu waunoda ane PKU, yeuka kuti hausi wega. Kune ma network akanaka ekutsigira, vanachiremba vane hunyanzvi, uye maitiro ekurapa ari kuvandudzwa nguva dzose aripo kukubatsira kukura.

Mibvunzo inowanzo bvunzwa nezve Phenylketonuria

Vanhu vane PKU vanogona kudya zvokudya zvakajairika here?

Vanhu vane PKU vanogona kudya zvokudya zvakawanda "zvakajairika", asi vanoda kusarudza nezve protein sources. Zvibereko nemiriwo yakawanda zvakanaka, uye kune zvigadzirwa zvakagadzirwa zvine protein shoma zvemabhanzi, pasta, nezvimwe zvinhu zvakakosha. Kunyangwe vasingakwanisi kudya zvokudya zvine protein yakawanda senyama, hove, mazai, nemukaka muhuwandu hunowanzoitika, vanogona kazhinji kuva nezvikamu zviduku, zvakayerwa zvichienderana nemamiriro avo.

PKU inorapika here?

Parizvino, hapana mushonga wePKU, asi inorapika zvikuru. Kudya kwakaderera kwephenylalanine nekutarisira kwechiremba zvinogona kudzivirira zvachose matambudziko makuru ane hukama nechirwere ichi. Vatsvakurudzi vari kushanda pamishonga inogona kunge iripo, kusanganisira gene therapy ne enzyme replacement treatments, asi izvi zvichiri kuongororwa.

Vakadzi vane PKU vanogona kuva nevana vane utano here?

Hongu, vakadzi vane PKU vanogona kuva nevana vane utano, asi zvinoda kuronga kwakanyatsojeka nekutarisirwa kwechiremba. Vanoda kuwana nekuchengeta mazinga akaderera kwazvo ephenylalanine usati wava nepamuviri uye panguva yepamuviri. Izvi kazhinji zvinoreva kutevera kudya kwakaderedzwa zvakanyanya pane zvakajairika, asi nekutarisira kwakakodzera, njodzi yekukanganisa pakuzvarwa inogona kuderedzwa zvikuru.

PKU inokanganisa here hupenyu hwenguva refu?

Kana yakaraparwa zvakanaka kubva pakuzvarwa, PKU haikanganisi zvikuru hupenyu hwenguva refu. Vanhu vane PKU yakaraparwa zvakanaka vanogona kurarama kwenguva yakareba senge vamwe vanhu. Chinhu chikuru ndechekuchengeta kutonga kwakanaka kwezvokudya nekuongororwa kwechiremba nguva dzose kweupenyu hwese.

Chii chinoitika kana munhu ane PKU akadya zvokudya zvine protein yakawanda?

Kudya zvokudya zvine phenylalanine yakawanda hazvizokonzere kukuvara nekukurumidza, asi zvinogona kukwidza mazinga eropa ephenylalanine. Izvi zvinogona kukonzera zviratidzo zvishoma senge kuoma kuisa pfungwa, kuchinja kwemanzwiro, kana misoro. Chinhu chakakosha ndechekudzokera pakudya kwakakodzera uye kuudza timu yako yekurapa, iyo inogona kukurudzira kuongororwa kweropa kwakawedzerwa.