Chii chinonzi Phenylketonuria (PKU)? Zviratidzo uye Kurapwa

Phenylketonuria (PKU)chinhu chisingawanzo geneti chinokonzeresa amino acid inonzi phenylalanine kuungana mumuviri. Amino acids ndiwo matombo ekuvaka mapuroteni. Phenylalanine Inowanikwa mune zvese mapuroteni uye zvimwe zvekugadzira zvinotapira.

Phenylalanine hydroxylase isenzyme inoshandiswa nemuviri kushandura phenylalanine kuita tyrosine, iyo inodiwa nemuviri kugadzira neurotransmitters senge epinephrine, norepinephrine, uye dopamine.

Phenylketonuriainokonzerwa nekukanganisika kwejeni rinobatsira kugadzira phenylalanine hydroxylase. Kana iyi enzyme isipo, muviri haugone kuputsa phenylalanine. Izvi zvinoita kuti phenylalanine iwande mumuviri.

Vacheche vanoongororwa PKU vachangozvarwa. Kukurumidza kuongororwa uye kurapwa, phenylketonuria zviratidzo inogona kuderedza uye kudzivirira kukanganisa kwehuropi.

Ndezvipi Zviratidzo zvePhenylketonuria?

PKU zviratidzo inogona kubva kune yakapfava kusvika kune yakaoma. Chimiro chakanyanya chechirwere ichi classical phenylketonuria inozivikanwa se. 

Mwana ane PKU yekare anogona kuratidzika seakajairika mumwedzi mishoma yekutanga yehupenyu. Panguva iyi mwana phenyltonuria Kana akasarapwa, anozotanga kuita zviratidzo zvinotevera:

– pfari

- kubvunda

- Kusakwana kukura

– Hyperactivity

- Eczema zvirwere zveganda zvakadai

- Kunhuwa kwekufema, ganda kana weti

Phenylketonuria Kana ikasaonekwa pakuzvarwa uye kurapwa kusati kwatanga nekukurumidza, chirwere chinogona kukonzera:

-Kukuvadzwa kwehuropi kusingadzoreki uye kuremara kwehungwaru mumwedzi mishoma yekutanga yehupenyu

- Matambudziko ehunhu uye kubata muvana vakura

Chimiro chakaderera chePKU chinonzi musiyano PKU kana isiri-PKU hyperphenylalaninemia. Izvi zvinoitika kana muviri wemwana une phenylalanine yakawandisa.

Vacheche vane rudzi urwu rwechirwere vanogona kunge vaine zviratidzo zvishoma, asi vachada kutevera kudya kwakakosha kuti vadzivise hurema hwepfungwa.

Kana imwe nzira yekudya uye mamwe marapiro anodiwa atanga, zviratidzo zvinotanga kuderera. Phenylketonuria kudyaVanhu vanobata rheumatoid arthritis nenzira kwayo kazhinji havaratidzi zviratidzo.

Chii Chinokonzera Phenylketonuria?

Phenylketonuria chirwereChimiro chekugarwa nhaka chinokonzerwa nekukanganisika kwePAH gene. Iyo PAH gene inobatsira kugadzira phenylalanine hydroxylase, iyo enzyme inokonzera kuparara kwe phenylalanine.

Iyo ine njodzi buildup ye phenylalanine inogona kuitika kana mumwe munhu akadya yakakwira-protein chikafu senge mazai nenyama.

Kuti mwana agare nhaka yechirwere ichi, vabereki vese vese vanofanirwa kunge vaine vhezheni yakakanganisika yePAH gene. Kana mubereki mumwe chete akapfuura pajena iri, mwana haazove nezviratidzo, asi achava mutakuri wejini.

Phenylketonuria marudzi ndeaya anotevera;

Kuoma kwe phenylketonuria kunosiyana zvichienderana nerudzi.

Classic PKU

Chimiro chakanyanya kuoma chechirwere chinonzi classic PKU. Iyo enzyme inodiwa kushandura phenylalanine inoshaikwa kana kuderedzwa zvakanyanya, zvichikonzera kuwanda kwe phenylalanine uye kukuvara kwakanyanya kwehuropi.

Zvishoma zvakanyanya mafomu ePKU

Mune zvinyoro-nyoro kana zvine mwero mafomu, iyo enzyme inochengeta mamwe emabasa ayo, saka phenylalanine mazinga haasi iwo akakwira, achideredza njodzi yekukuvara kwakakosha kwehuropi.

Zvisinei, vana vakawanda vane chirwere ichi vanoona zvakaoma kudzivirira hurema hwepfungwa uye mamwe matambudziko. phenylketonuria kudya inofanira kutevera

Kubata pamuviri uye Phenylketonuria

Phenylketonuria Vakadzi vane pamuviri uye vanoita pamuviri vari pangozi yeimwe rudzi rwechirwere chinonzi PKU yaamai. 

vakadzi vasati uye panguva yekuzvitakura phenylketonuria kudyaKana dzikasateverwa nemazvo, mazinga eropa phenylalanine anogona kukwira nekukuvadza mwana ari kukura kana kukonzera kubva pamuviri.

Kunyangwe vakadzi vane mafomu mashoma ePKU, phenylketonuria kudyaKutadza kutevedzera zvinogona kuisa vana vavo vasati vaberekwa panjodzi.

Vana vanoberekwa naamai vane mazinga akakwirira ephenylalanine vanowanzova phenylketonuria chirwereHavagari nhaka. Zvisinei, kana mwero weropa raamai we phenylalanine wakakwira panguva yekuzvitakura, zvinogona kuva nemigumisiro yakakomba. Matambudziko pakuzvarwa anosanganisira:

– Kuzvara huremu hushoma

– Kunonoka kukura

- kukanganisa chiso

– Musoro mudiki zvisingaite

- Kuremara kwemoyo uye mamwe matambudziko emoyo

- kuremara kwepfungwa

– Matambudziko ehunhu 

Ndezvipi Zvikonzero Zvengozi yePhenylketonuria Chirwere?

Zvinhu zvine njodzi yekugara nhaka phenylketonuria ndezvi:

Vabereki vese vane geni rakaremara rinokonzeresa PKU

Vabereki vaviri vanofanira kupfuudza kopi imwe yejini rakaremara kuti mwana wavo akure mamiriro acho.

vane dzinza chairo

Phenylketonuria chirwereIyo gene defect inokonzera rheumatoid arthritis inosiyana neboka remadzinza uye haina kuwanda muAfrica-America pane mamwe madzinza.

Phenylketonuria Chirwere Matambudziko

isina kurapwa phenylketonuria chirwerezvinogona kutungamirira kumatambudziko mucheche, vana, uye vakuru vane chirwere.

pamwe phenylketonuria Kana vanaamai vaine mazinga eropa akakwira phenylalanine panguva yekuzvitakura, hurema hwekuzvarwa kwe fetal kana kupfupfudzika kunogona kuitika.

isina kurapwa phenylketonuria chirwere zvinogona kutungamirira ku:

-Kukuvadzwa kwehuropi kusingadzoreki uye kuremara kwepfungwa kwakakosha kutanga mumwedzi mishoma yekutanga yehupenyu

Neurological matambudziko akadai seizure uye kudedera

- Matambudziko ehunhu, emanzwiro uye emagariro muvana vakura nevakuru

- Nyaya huru dzehutano nebudiriro

Phenylketonuria Kuongororwa

Phenylketonuria (PKU) Muedzo

Chiremba anotora madonhwe mashomanana eropa kubva pachitsitsinho chemwana kuti aongorore PKU uye zvimwe zvirwere zvemajini. Ongororo yekuongorora inoitwa kana mwana aine zuva rimwe kusvika maviri ekuberekwa uye achiri muchipatara.

Kuwedzera kuyedzwa kunogona kuitwa kusimbisa mhinduro dzekutanga. Iyi bvunzo inotarisa kuvepo kwePAH gene mutation inokonzeresa PKU. Kuongororwa uku kunowanzoitwa mavhiki matanhatu mushure mekuzvarwa.

Kana mwana kana munhu mukuru akaratidza zviratidzo zvePKU, zvakadai sekunonoka kukura, chiremba anorayira kuongororwa ropa kuti asimbise kuongororwa. Muedzo uyu unosanganisira kutora sampuli yeropa nekuriongorora kuti ivepo sei enzyme inodiwa kupaza phenylalanine.

Phenylketonuria Kurapa

Phenylketonuria Vanhu vane chirwere cheshuga vanogona kuderedza zviratidzo uye kudzivirira matambudziko kuburikidza nekutevera kudya kwakakosha uye kutora mishonga.

Phenylketonuria Diet

Nzira huru yekurapa PKU ndeyekudya kwakakosha kunomisa chikafu chine phenylalanine. Vana vane PKU vanogona kuyamwiswa.

Ivo vanofanirwawo kushandisa yakakosha formula, inowanzozivikanwa seLofenalac. Kana mwana akura zvokukwanisa kudya zvokudya zvakasimba, zvinokosha kuti arege kumubvumira kudya zvokudya zvine mapuroteni akawanda. Zvokudya izvi ndezvi:

- Zai

- Chizi

- Hazelnut

- Mukaka

- Bhinzi

- Huku

- Nyama yemombe

- Hove

Zvakakosha kuziva kuti zvirongwa zvekudya zvePKU zvinosiyana kubva kumunhu nemunhu. Vanhu vane PKU vanofanira kushanda pamwe chete nachiremba kana chiremba wezvekudya kuti vave nechokwadi chekuenzanisa kwekudya uku vachideredza kutora kwavo phenylalanine.

Vanofanirawo kutarisa mazinga e phenylalanine nekuchengetedza zvinyorwa zvehuwandu hwe phenylalanine muzvokudya zvavanodya zuva rose. 

mushonga

PKU kurapwa Sapropterin (Kuvan) inoshandiswa Sapropterin inobatsira kuderedza phenylalanine mazinga.

Mushonga uyu unofanirwa kushandiswa pamwe chete nechirongwa chekudya chePKU. Nekudaro, hazvishande kune wese ane PKU. Inonyanya kushanda muvana vane zvinyoro zvishoma zvePKU.

Unofanira kuona chiremba rinhi?

Muzviitiko izvi, zvakakosha kutsvaga rubatsiro rwechiremba:

vachangozvarwa

Kana achangobva kuzvarwa ongororo yekuongorora yakaratidza kuti mwana anogona kunge aine PKU, chiremba wemwana anoda kutanga kurapwa kwekudya nekukurumidza kudzivirira matambudziko akareba.

vakadzi vezera rekubereka

Zvinonyanya kukosha kuti vakadzi vane nhoroondo yePKU vaone chiremba vasati uye panguva yekuzvitakura uye kuchengetedza kudya kwePKU kuderedza njodzi yekuti kuwanda kweropa re phenylalanine kunokuvadza mwana wavo asati aberekwa.

Vakuru

Vanhu vane PKU vanoramba vachiwana rubatsiro muupenyu hwavo hwose. Vakuru vane PKU vanomisa kudya kwePKU pakuyaruka vanofanira kuona chiremba.

Kudzokera kune kudya kunogona kuvandudza kushanda kwepfungwa uye maitiro uye kunonotsa kukuvadzwa kwenheyo yepakati iyo inogona kuguma kubva kune yakakwirira phenylalanine mazinga.

Avo vane phenylketonuria;

Phenylketonuria varwerenguva pfupi mushure mokuberekwa phenylketonuria chikafu Kana vakanyatsotevera hurongwa hwake, hapafaniri kuva nechinetso.

Kana kuongororwa uye kurapwa kwakanonoka, kukuvara kwehuropi kunogona kuitika. Kuremara kwepfungwa kunogona kuitika. PKU isina kurapwa inogona kukonzera:

– Kunonoka kukura

- Matambudziko ehunhu uye epfungwa

Neurological matambudziko akadai kudengenyeka uye pfari

Ko Phenylketonuria Inogona Kudziviswa?

Phenylketonuria i genetic mamiriro, naizvozvo haigoni kudziviswa. Nekudaro, kuyedza enzyme inogona kuitwa kune vanhu vari kuronga kuita vana.

Iyi enzyme assay bvunzo yeropa inogona kuona kana munhu akatakura jena rakaremara rinokonzeresa PKU. Muedzo unogonawo kuitwa panguva yekuzvitakura kuratidza vana vasati vazvarwa PKU.

Phenylketonuria Kana ukadaro, unogona kudzivirira zviratidzo nekutevera chirongwa chekudya chenguva dzose muhupenyu hwako hwose.