Sezvo wakaziva kuti ndechipi chirwere-phenylketonuria, chakaonekwa munguva yechangobva kuberekwa, zvinotarisirwa kuti utange pakarepo utano kana yaonekwa. Kuonekwa kwokutanga uye kurapwa kunoita kuti zvikwanisike kubudirira.
Phenylketonuria - chii ichi chirwere?
Phenylketonuria, kana kuti Felling's disease, chirwere chakakomba, chakatanga kurondedzerwa muna 1934 neSanoscience scientist Felling. Zvadaro Kuzadza kwakaratidza kuongorora kwevana vanoverengeka vane kuchera kwepfungwa uye vakazarura mukati mavo mumuguta we phenylpyruvate, chibereko chekuparara kweamino acid phylalalanine, iyo inouya nechikafu, chisingaparadzanisi mumuviri wevarwere. Phenylketonuria chirwere chinokonzerwa nedambudziko remagetsi rezvinyorwa zvekuzvarwa, zvakawanikwa chimwe chekutanga.
Phenylketonuria rudzi rwefa
Kuzadza chirwere chinhu chromosomal-genetic, nhaka, inoparidzirwa vana kubva kuvabereki vavo. Icho chinokonzerwa nekubudirira kwehutachiona ndiro jeni iri pa 12 chromosome. Iye ndiye anokonzera kubudiswa kwemhepo inonzi hepatic enzyme phenylalanine-4-hydroxylase, kuburikidza nekushandurwa kwe phenylalanine kune chimwe chinhu-tyrosine (inotarisirwa kuti ishande muviri unoshanda).
Yakave yakagadzirwa kuti phenylketonuria inotora nhaka senzira yakashata. Inenge 2% yevanhu vanotakura chirwere chisina kukwana, asi havatambudziki ne phenylketonuria. Pathology inokura apo apo vaviri naamai nababa vanoendesa geni kumwana, uye izvi zvinogona kuitika pamwe nemukana we 25%. Kana phenylketonuria inosarudzwa semunhu anonyanya kukodzera, mudzimai ndiye heterozygous, uye murume ari homozygous kwemazuva ose ezvisikwa zvejeni, uye zvinoita kuti vana vave noutano hwakanaka hwe phenylketonuria geni ndeye 50%.
Fomu dze phenylketonuria
Tichifunga nezveani anogona kukurudzira phenylketonuria, rudzi rwechirwere, kazhinji inorudzi rwechirwere chechirwere, izvo zvinowanikwa munenge 98% yezviitiko. Izvo zvakasara matambudziko - cofactor phenylketonuria, inokonzerwa nechiremera chetrahydrobiopterin nekuda kwekuputsa kushandiswa kwayo kana kudzorerwa kwechimiro chinoshanda. Izvi zvinoshanda semubatanidzwa wemarudzi mazhinji enzyme, uye pasina iyo, kuratidzwa kwebasa ravo hazvibviri.
Phenylketonuria - Zvinokonzera
Chirwere chinokonzera chirwere chinokonzerwa nehutachiona hunokonzera kushayikwa kana kutadza kwe phenylalanine-4-hydroxylase, pane kuunganidza mumatumbu uye muviri wemvura ye phenylalanine, uyewo zvigadzirwa zvayo zvisina kukwana. Chikamu chezvinowedzera phyylalanine chinoshandurwa ku phenylketones, izvo zvakanyanyiswa mumuti, izvo ndizvo zvakatsanangurwa zita rechirwere.
Kuvhiringidzika kwemagadzirirwo emagetsi kunokanganisa zvikuru huropi. Pamusoro pemaviri ayo, chinotyisa chinogadzirwa, maitiro e-fat metabolism akavhiringidzika, kukanganiswa kwemagetsi emagetsi kunokundikana, uye kuumbwa kwevhuti reuropta kunoderera. Saka rinotanga kutangwa kwepathogenetic nzira dzokutadza mupfungwa mumwana.
Phenylketonuria - zviratidzo
Pakuberekwa, mwana ane chirwere ichi chinoratidzika sehutano, uye pashure pemwedzi 2-6 yekutanga zviratidzo zvinowanikwa. Phenylketonuria zviratidzo zvinotanga kuratidza apo muviri wemwana unowedzera phylalalanine, inouya nekakazamu kana mukakavara wekugadzira chikafu. Panogona kunge pane zviratidzo zvakadaro zvisati zvaitika:
- kunyanyisa kunetseka kana kufunganya;
- kusina maturo kunodanidzira;
- muscular dystonia ;
- kazhinji kudzoka;
- kunetseka ;
- kushushikana kwehope.
Mukuwedzera, vacheche vanorwara vane ganda rinopenya, vhudzi uye maziso kupfuura nhengo dzakanaka dzemhuri, iyo inobatanidzwa nekuputsa kwekugadzirwa kwevanguruve yevanguruve mumuviri. Chimwe chiratidzo chekucherechedza kuti vanachiremba kana vabereki vakanyatsocherechedza vanogona kuona kuti rudzi rwe "mouse" kunhuhwirira kunokonzerwa nekubudiswa kwe phenylalanine mumuguta uye swe sweat.
Kirapirini inoratidzika inowedzera kudarika mumwedzi inenge mitanhatu yemakore, mushure mokutanga kwekutanga kokudya kwekuwedzera:
- kusakwanisa kutarisa pane zvidzidzo zvega;
- kusava nehanya nezvose zvinoitika;
- kusavapo kwechiso chemaziso, kunyemwerera;
- kudengenyeka kwemaoko nezvakadaro.
Zvicherechedzawo zvakare kusaremara kwemuviri: hukuru hukuru hwemusoro, tsanga yakakwirira yepamusoro, yakazara mukukura. Vanorwara vana vanozotanga kubata misoro yavo, kutamba, kugara pasi, kumuka. Chigaro chakakosha munzvimbo yekugara ndiyo inofananidzira - "chimiro" chimiro, uye maoko anogara achigadzika pamakumbo, uye makumbo pamabvi. Pazera remakore matatu, kana kurapwa kusati kwatanga, zviratidzo zvinowedzera.
Phenylketonuria - Diagnosis
Phenylketonuria muvana kazhinji inowanikwa muchipatara chekuberekwa, iyo inobvumira kutanga kurapwa panguva uye kunodzivirira kukurudzirwa kwemigumisiro yakawanda isingagadziriswi. Mumazuva 4-5 mushure mokuberekwa, vana vanoita ropa rekudzivirira ropa musina chinhu chisina chinhu kuti vaone zvirwere zvakakomba zvepabonde, pakati pavo - phenylketonuria. Kana chikamu chinobva kuchipatara chekuberekwa chikaitika kare, kuongororwa kunoitwa mupolyclinic panzvimbo yaunogara mumazuva gumi ekutanga ehupenyu.
Tichifunga kuti muzviitiko zvisingawanzoitiki, pane zvikanganiso zvakashata, chirwere chacho hachina kumbogadziriswa chichitevera mhinduro dzekutanga kuongorora. Kuti asimbise hutachiona huripo, dzimwe dzidzo dzakawanda dzinopiwa, pakati pazvo:
- urinalysis for the detection of phenylpyruvate;
- kuedza kwehuwandu hwe phenylalanine uye tyrosine mu plasma;
- kutsunga basa rekunyora enzyme;
- electroencephalography uye magnetic resonance imaging yeuropi.
Chirema chinokonzera kukura kwehutachiona chinogona kuonekwa mumucheche panguva yekudzivirirwa kwepabonde. Kuti uite izvi, sampuli yemasero anobva kuvillus chorion kana amniotic fluid anosarudzwa, uye zvino DNA inoongorora inoitwa. Zvinokurudzirwa kuti kudzidza kwakadaro mumhuri ine ngozi yakakura yekuderedza, kusanganisira, kana ikozvino kune mwana ane phenylketonuria.
Phenylketonuria - kurapwa
Apo phenylketonuria inowanikwa muzvitsva, vanachiremba vakadai sai geneticist, vanachiremba vevana, neurologist, nutritionist vanofanira kuchengeta vanorwara. Avo vanoziva, phenylketonuria - rudzi rwechirwere, ruchava pachena sei chikonzero chekurapa kwake ndekutevera kudya pamwe nekudziviswa kwe phenylalanine. Mukuwedzera, mishonga, kushambadzira, physiotherapy, maitiro epfungwa uye maitiro ekugadzirisa hukama hwemucheche, kugadzirira kwekudzidza, inorayirwa.
Phenylketonuria - kudya
Apo uchitarisa "phenylketonuria", kudya kwemwana kunorayirwa pakarepo. Kubva pakudya, zvokudya zvinowanikwa muprotheni (nyama, hove, mishonga yemiti, michero, nuts nevamwe) hazvibvumirwi. Chido chemapurotini chinopiwa nemari miviri yakasiyana-siyana uye nemimwe michina ine berlofen - semisynthetic protein hydrolyzate, isina zvachose isina phenylalanine (Tetrafen, Lofenalak, Nofelan). Varwere vanotora mapurotini asina chingwa, pasta, zviyo, mousses nezvimwe zvakadaro. Kuyamwisa kunogadziriswa zvishoma.
Kunyatsoteerera kudya kunowanzochengetedzwa kwezvinyorwa zve phenylalanine muropa panguva yekutanga makore 14-15 ehupenyu zvinodzivisa kukura kwekusaziva kwepfungwa. Zvadaro zvokudya zvinowedzera, asi nyanzvi dzakawanda dzinokurudzira kuchengetedza upenyu hwose hwekudya. Iko inonzi cofactor ye phenylketonuria haina kubatwa nekudya, asi inoruramiswa chete nekushandiswa kweetrahydrobiopterin magadzirira.
Phenylketonuria - madhiragi ekurapa
Phenylketonuria kurapwa muvana inopawo kudya kweimwe mishonga, kusanganisira:
- nootropics ( Piracetam , Cerebrolysin);
- mavitamini eboka B;
- mineral complexes;
- madhiragi ekuvandudza mishonga yemetabolism (ATP, Riboxin );
- zvinodhaka zvinowedzera microcirculation (Trental, Pentoxifylline).
Phenylketonuria - kufungidzira kwehupenyu uye zvirwere
Vabereki vanozviziva pachavo kuti rudzi rwei genetic disease - phenylketonuria, mumamiriro emazuva ano anopiwa mukana wokukura mwana ane utano, kana iwe uchitevera zvinyorwa zvose zvezvechiremba. Apo kurapa kwakanaka hakuwanikwi, phenylketonuria kufungidzira kunonyadzisa: varwere vanorarama makore anenge 30 vane kukanganisika kwepfungwa uye dzakawanda zvinetso zvekushanda.