Xa sele ufumene uhlobo luni lwesifo - phenylketonuria, olufunyanwe ngexesha lokuzalwa, kufuneka ukuba uqale ngokuqala unyango xa kufunyenwe. Ukufumanisa kwangaphambili kunye neyeza kwenza kube lula ukufumana iziphumo ezilungileyo.
I-Phenylketonuria - yintoni esi sifo?
I-Phenylketonuria, okanye isifo se-Felling, sisifo esiyingozi kakhulu, esichazwe okokuqala ngo-1934 nguNosayensi waseNorth Felling. Emva koko ukuphonsa uphando olwenziwa ngabantwana abaningana abanexinzelelo lwengqondo kwaye babonakaliswa kubo ubukho emcanjeni we phenylpyruvate, umveliso wokuphuka kwe-amino acid phenylalanine, ezayo kunye nokutya, okungaqhekekiyo emzimbeni wezigulane. I-Phenylketonuria isifo esihambelana nesifo sokuxhatshazwa kwesimo esingumntu ongaziwayo, sithole enye yeyokuqala.
I-Phenylketonuria luhlobo lomlifa
Isifo sokuguqula sisifo se-chromosomal-genetic, esiyifa, esidluliselwa kubantwana kubazali babo. Umgwenxa wokuphuhliswa kwezilwanyana i-gene i-12 ye-chromosome. Unoxanduva lokuvelisa i-phenylalanine-4-hydroxylase ye-enzyme ye-hepatic, apho ukuguqulwa kwe-phenylalanine kwenye i-tyrosine (into efunekayo yokusebenza komzimba).
Kwaqulunqwa ukuba i-phenylketonuria izuzwe njengeliqhelo. Malunga no-2% wabantu abathwala i-gene defective, kodwa abahluphekanga kwi-phenylketonuria. I-Pathology ikhula kuphela xa bobabini nonina behambisa umzobo kumntwana, kwaye oku kuya kwenzeka nge-25%. Ukuba i-phenylketonuria izuzwe njengeliqhelo, umfazi u-heterozygous, kwaye umyeni u-homozygous for the whole allele of the gene, ngoko ke amathuba okuba abantwana baya kuba ngabaphathi bezempilo be-phenylketonuria geni ngu-50%.
Iifom ze phenylketonuria
Ukuqwalasela ukuba ngubani onokuphuhlisa i-phenylketonuria, yintoni uhlobo lwesifo, ngokuqhelekileyo luhlobo lwe-pathology, olwenzeka malunga nama-98% amatyala. Amatyala asele - i-cofactor phenylketonuria, ebangelwa yintlawulo ye-tetrahydrobiopterin ngenxa yokuphula umthetho okanye ukubuyiswa kwefom esebenzayo. Le nkunkuma isebenza njengomqhagamshelana wenani leenzyme, kwaye ngaphandle kwayo, ukubonakaliswa komsebenzi wabo akunakwenzeka.
I-Phenylketonuria - Izizathu
Isifo sokuguqula sisifo esithile apho, ngenxa yokuguqulwa kwezinto ezibangelwa ukulahleka okanye ukungabikho kwe-phenylalanine-4-hydroxylase, kukho ukuqokelela kwezicubu kunye namanzi omzimba we-phenylalanine, kunye nemveliso ye-cleavage yayo engaphelelanga. Ingxenye ye phenylalanine engaphezulu iguqulwa ibe yi-phenylketones, ekhutshwe kumchamo, oko kukuthi igama laso sifo.
Ukuphazanyiswa kweenkqubo ezixilisayo kukuchaphazela ikakhulu ingqondo. Kwizicubu zayo, isiphumo setyhefu sikhiqizwa, iinkqubo ze-fatabetabolism ziphazamiseka, ukukhwa kwamagciwane omzimba kunqongophala, kwaye ukuveliswa kwama-neurotransmitters kunciphisa. Ngoko iqalisa ukuqaliswa kweendlela eziphenegenetic zokulinda kwengqondo kumntwana.
Phenylketonuria - iimpawu
Ekuzalweni, umntwana onolu xilongo ubonakala enempilo, kwaye emva kweenyanga ezi-2-6 kuphela iimpawu zokuqala zifunyenwe. I-Phenylketonuria impawu ziqala ukubonakalisa xa umzimba womntwana uqokelela i-phenylalanine, ezayo ngobisi lwebele okanye imixube yokutya okufakwayo. Kukho iimpawu ezinjalo ezingekho ngqo.
- ukugqithisa ngokweqile okanye ukuxhalaba;
- zikhala;
- i-dystonia ye-muscular ;
- ukuphindaphinda rhoqo;
- zixhala ;
- izifo zokulala.
Ukongezelela, iintsana ezigulayo zinesikhumba esilula, iinwele kunye namehlo kunamalungu enempilo entsapho, enxulumene nokuphulwa kwemveliso ye-pigment melanin emzimbeni. Esinye isibonakaliso sokuxilongwa ukuba oogqirha okanye abazali abaphulaphuleyo bangaqaphela uhlobo lwe "mouse" elivumbayo elibangelwa ukukhululwa kwe-phenylalanine kumchamo nokukhupha.
Imiboniso yekliniki iya kuthiwa ivakalise ngaphezu kweenyanga ezintandathu, emva kokusungulwa kwesidlo sokuqala esongezelelweyo:
- ukungakwazi ukugxila kwizifundo ngabanye;
- ukungakhathaleli kuyo yonke into eyenzekayo;
- ukungabikho kwesimo sombuso, ukumamatheka;
- ukuthuthumela kwezandla nokunye.
Ukuphawulwa kuyinto engafanelekiyo emzimbeni: ubuncinane beentloko, umhlathi ophezulu ophezulu, ulwala ekukhuleni. Abantwana abagulayo kamva baqala ukubamba iintloko zabo, bakhwebe, bahlale phantsi, bavuke. Isikhundla esikhethekileyo kwisithuba sokuhlala siqhelekile - "ukulungelelanisa" ukuhamba, kunye neengalo zihlala zigobile kwiindawo zokuhlala, kunye nemilenze emadolweni. Xa uneminyaka emithathu, ukuba unyango aluzange luqaliswe, uphawu lweempawu lukhula.
Phenylketonuria - Ukuxilongwa
I-Phenylketonuria kubantwana idlalwa kwisibhedlele sokubeleka, evumela ukuba uqale unyango ngexesha kwaye ukhusele ukuphuhliswa kwemiphumo engapheliyo. Kwiintsuku ezine-4-5 emva kokuzalwa, iintsana zithatha igazi le-capillary kwisisu esingenalutho ukucacisa izifo ezinobomi obukhulu, phakathi kwazo-phenylketonuria. Ukuba isicatshulwa esibhedlele sokubeleka senzeke ngaphambili, uhlalutyo lwenziwe kwi-polyclinic kwindawo yokuhlala kuyo kwiintsuku ezili-10 zokuqala.
Ngenxa yokuba kwiimeko ezinqabileyo, kukho iziphumo ezingalunganga, ukuxilongwa akukaze kusekwe emva kweziphumo zohlalutyo lokuqala. Ukuqinisekisa ukukhubazeka okukhoyo, ezinye iinkalo zezifundo zinikezelwe, phakathi kwazo:
- urinalysis yokufunyanwa kwe phenylpyruvate;
- Ukuzimisela okuninzi kwe-phenylalanine kunye ne-tyrosine kwiplasma;
- ukuzimisela umsebenzi we-enzyme ye-hepatic;
- i-electroencephalography kunye nokucatshulwa kwamaginiti okubomi kwengqondo.
Impembelelo yezofuzo ezikhokelela ekuphuhliseni i-pathology inokufumaneka kwi-fetus ngexesha lokuxilongwa kwangaphambi kokubeleka. Ukwenza oku, iisampula zeeseli ezivela kwi-villus chorion okanye i-amniotic fluid zikhethwe, kwaye uhlalutyo lwe-DNA lwenziwa. Kunconywa ukuba uhlolisiso olunjalo kwiintsapho ezinomngcipheko ophezulu wokubandezeleka, kubandakanywa, ukuba sele kukho umntwana ene phenylketonuria.
Phenylketonuria - unyango
Xa i-phenylketonuria ifunyanwe kwiintsana, oogqirha bezo zizodwa ezifana ne-geneticist, udokotela wezilwanyana, i-neurologist, i-neurologist, isondlo sokutya kufuneka bagcine abagulayo. Abo baziyo, i-phenylketonuria - luhlobo luni lwesifo, kuya kucacisa ukuba kutheni isiseko sonyango lwakhe kukulandela ukutya kunye nomda we-phenylalanine. Ukongezelela, amayeza, ukuhlalisa umzimba, umzimba we-physiotherapy, iindlela zengqondo kunye neendlela zokufundisa ukuhlalisana komntwana, ukulungiselela ukufunda, zichongiwe.
Phenylketonuria - ukutya
Xa ufumanisa ukuba "phenylketonuria", ukutya komntwana kunqunywe ngokukhawuleza. Ukususela ekudleni, ukutya okucebile kwiprotheni (inyama, intlanzi, iimveliso zobisi, izityalo, izantyambo kunye nabanye) zifakiwe. Imfuno yamaprotheni ihlawulwa ngokuxutywa ngokukhethekileyo kunye nezinye iimveliso kunye ne-berlofen - i-proisynthetic protein hydrolyzate, engenakho ngokupheleleyo i-phenylalanine (iTetrafen, Lofenalak, Nofelan). Izigulana zithatha isinkwa esingenamaprotheni, i-pasta, okusanhlamvu, i-mousses njalonjalo. Ukuncwina kuyenziwa ngamanani athile.
Ukunamathela ngokukhawuleza kwisondlo ngokujonga rhoqo umxholo we-phenylalanine egazini ngexesha leminyaka yokuqala eyi-14-15 yobomi kuthintela ukuphuhliswa kwengqondo engafanelekiyo. Emva koko ukutya kwandisiwe, kodwa ezininzi iingcali zincoma ukugcinwa kokutya okukhethekileyo. Ifom ye-cofactor ye phenylketonuria ayiphathwa ngokutya, kodwa ilungiswa kuphela ngokulawulwa kwamalungiselelo e-tetrahydrobiopterin.
I-Phenylketonuria - iziyobisi unyango
I-Phenylketonuria unyango kubantwana iphinde inikezele ukungena kwamachiza athile, kuquka:
- i-nootropics ( iPiracetam , i-Cerebrolysin);
- iivithamini zeqela B;
- iimbumba zezixhobo;
- iziyobisi ekuphuculeni i-metabolism yamathambo (ATP, Riboxin );
- iziyobisi eziphucula i-microcirculation (Trental, Pentoxifylline).
I-Phenylketonuria - ukuchasisela ubomi kunye nezifo
Abazali abaziyo ngokwenu uhlobo luni lwesifo se-genetic - phenylketonuria, kwiimeko zanamhlanje unikezwa ithuba lokukhula umntwana onempilo, ukuba ulandele yonke imiyalelo yezokwelapha. Xa unyango olulungileyo alufumaneki, i-phenylketonuria prognosis iyadumaza: izigulane zihlala malunga neminyaka engama-30 ngobunzima beengqondo kunye neengxaki ezininzi zokusebenza.