Ngemuva kokuthola ukuthi yiluphi uhlobo lwesifo - phenylketonuria, olutholakala ngesikhathi sokuzalwa, kuyadingeka ukuba uqale ukwelashwa ngokushesha uma kutholakala. Ukutholakala kokuqala kanye nokwelapha kwenza kube lula ukufeza imiphumela emihle.
I-Phenylketonuria - siyini lesi sifo?
I-Phenylketonuria, noma i-Felling's disease, iyisifo esingathí sina, esichazwe okokuqala ngo-1934 nguSosayensi waseFrance. Khona-ke ukuchibiyela kwenziwa ucwaningo lwezingane eziningana ezinokuphuza kwengqondo futhi zaveza ukuthi kukhona khona emcimbini we phenylpyruvate, umkhiqizo wokuwohloka kwe-amino acid phenylalanine, ehambisana nokudla, okungahlukanisi umzimba weziguli. I-Phenylketonuria yisifo esihlotshaniswa nesifo se-metabolic se-innate nature, ethola enye yeyokuqala.
I-Phenylketonuria uhlobo lwefa
Isifo sokuguqula i-chromosomal-genetic, ifa, eyadluliselwa ezinganeni ezivela kubazali bazo. Isizathu sokuthuthukiswa kwe-pathology yisisindo esise-chromosome engu-12. Ubhekene nokukhiqizwa kwe-enzyme ye-hepatic phenylalanine-4-hydroxylase, lapho ukuguqulwa kwe-phenylalanine kwesinye isimo - i-tyrosine (kuyadingeka ukuthi isebenze ngomzimba evamile).
Kwasungulwa ukuthi i-phenylketonuria izuzwa ifa njengezici ezidlulele. Cishe 2% wabantu bayithwala isakhi esingenasici, kodwa abahlukunyezwa yi-phenylketonuria. I-pathology iqala kuphela lapho bobabili umama nobaba behambisa ingane igciwane, futhi lokhu kungenzeka nge-25%. Uma i-phenylketonuria izuzwa njengefa eliyinqaba, umfazi u-heterozygous, futhi umyeni u-homozygous for the allele of the gene, ngakho-ke amathuba okuba izingane ziyoba abathwali bezempilo be-phenylketonuria gene i-50%.
Amafomu e-phenylketonuria
Uma sicabanga ukuthi ubani ongakha i-phenylketonuria, yiluphi uhlobo lwesifo, ngokuvamile luhlobo lwe-classic lwe-pathology, olwenzeka cishe ngamacala angu-98%. Amacala asele - i-cofactor phenylketonuria, ebangelwa isici se-tetrahydrobiopterin ngenxa yokuphulwa kokuhlanganiswa kwayo noma ukubuyiselwa ifomu elisebenzayo. Lesi sici sisebenza njenge-cofactor eziningana ze-enzyme, futhi ngaphandle kwayo, ukubonakaliswa komsebenzi wabo akunakwenzeka.
I-Phenylketonuria - Izimbangela
Isifo sokuguqula yisifo sokukhubazeka lapho ngenxa yokuguqulwa kwesakhi sofuzo okubangelwa ukuntuleka noma ukungabi nhlobo kwe-phenylalanine-4-hydroxylase, kukhona ukuqoqwa kwezicubu kanye namanzi kagesi we phenylalanine, kanye nemikhiqizo ye-cleavage yayo engaphelele. Ingxenye ye-phylalalanine engaphezu kwenguquko iguqulwa ibe yi-phenylketones, ekhishwa emcinini, yilokho okwenziwe igama lesi sifo.
Ukuphazanyiswa kwezinqubo zokuxilonga umzimba kuthinta kakhulu ubuchopho. Ezingxenyeni zayo, kusetshenzwa umuthi onobuthi, izinqubo ze-fat metabolism ziphazamiseka, ukugonywa kwezintambo zezinyosi kwehluleka, futhi ukwakheka kwama-neurotransmitters kunciphisa. Ngakho uqala ukwethulwa kwezinqubo eziyinkimbinkimbi zokwehla kwengqondo kwengane.
I-Phenylketonuria - izimpawu
Ekuzalweni, ingane enesifo esibhekene nalesi sifo ibukeka iphilile, futhi emva kwezinyanga ezimbili no-6 izimpawu zokuqala zitholakala. Izimpawu zePhenylketonuria ziqala ukubonakalisa lapho umzimba wengane iqoqa phylalalanine, ehambisana nobisi lwebele noma izingxube zokudla okufakelwayo. Kungenzeka kube nezimpawu ezinjalo okwamanje:
- ukwehlisa ngokweqile noma ukukhathazeka;
- ukukhala okungenasici;
- i-dystonia yemisipha ;
- ukuphindaphinda njalo;
- ukuxubha ;
- ukuphazamiseka kokulala.
Ngaphezu kwalokho, izinsana ezigulayo zinesikhumba esikhanyayo, izinwele nezamehlo kunamalungu enempilo emndenini, okuhlobene nokuphulwa komkhiqizo we-pigment melanin emzimbeni. Esinye isibonakaliso sokuthola ukuthi odokotela noma abazali abaqaphele bangabona ukuthi uhlobo lwe "igundane" iphunga elibangelwa ukukhululwa kwe-phenylalanine emcimbini nokukhukhumeza.
Ukubonakaliswa kwemitholampilo kuvezwa ngaphezulu ezinyangeni eziyisithupha ubudala, emva kokusungulwa kwesidlo sokuqala esihambisanayo:
- ukungakwazi ukugxila kwezihloko ngabanye;
- ukungakhathaleli kukho konke okwenzekayo;
- ukungabi khona kwesimo sobuso, kumamatheka;
- ukuthuthumela kwezandla njalonjalo.
Okuphawulekayo nakho okungajwayelekile ngokomzimba: usayizi omncane wekhanda, umhlathi ophezulu ophezulu, umgogodla wokukhula. Izingane ezigulayo kamuva ziqala ukubamba amakhanda, zikhahlele, zihlale phansi, zivuke. Isikhundla esikhethekile esimweni sokuhlala sivame ukujwayela - ukuhleleka "kokuhleleka", ngezikhali zihlale zigobile emaceleni, nemilenze emadolweni. Lapho uneminyaka emithathu, uma ukwelashwa kungakaqalwanga, i-symptomatology iyanda.
I-Phenylketonuria - Ukuxilongwa
I-Phenylketonuria ezinganeni ngokuvamile ibonakala esibhedlela sokubeletha, okuvumela ukuqala ukwelashwa ngesikhathi futhi kuvimbele ukuthuthukiswa kwemiphumela eminingi engaphenduki. Ezinsukwini ezingu-4-5 emva kokubeletha, izinsana zithatha igazi le-capillary esiswini esingenalutho ukuze zithole ezinye zezifo ezifuywayo zofuzo, phakathi kwazo - phenylketonuria. Uma ukukhishwa kwesibhedlela sokubeletha kwenzeka ngaphambili, ukuhlaziywa kwenziwa endaweni ye-polyclinic endaweni yokuhlala phakathi nezinsuku eziyishumi zokuqala zokuphila.
Ngenxa yokuthi ezimweni ezingavamile, kunemiphumela engalungile, ukutholakala kwesifo akuzange kusungulwe kulandela imiphumela yokuhlaziywa kokuqala. Ukuze kuqinisekiswe i-pathology ekhona, kunezinye izifundo ezinikeziwe, phakathi kwazo:
- ukuvuthwa kwe-urinalysis for the detection of phenylpyruvate;
- ukuzimisela okwenziwe ngokweqile kwe-phenylalanine ne-tyrosine e-plasma;
- ukuzimisela kwemisebenzi ye-enzyme ye-hepatic;
- i-electroencephalography kanye nokucabangela kwamandla kagesi.
Iphutha lezakhi zofuzo eliholela ekuthuthukiseni ukwelashwa kungatholakala ku-fetus ngenkathi ihlaselwa isifo sokubeletha ngaphambi kokubeletha. Ukuze wenze lokhu, amasampuli amaseli avela ku-villus chorion noma amniotic fluid akhethiwe, bese kuhlolwa i-DNA. Kunconywa ukuthi isifundo esinjalo emindenini sinengozi enkulu yokugula, kuhlanganise, uma kakade kukhona ingane ene phenylketonuria.
Phenylketonuria - ukwelashwa
Lapho i-phenylketonuria itholakele ezinsana ezisanda kuzalwa, odokotela bezobuchwepheshe ezifana ne-geneticist, udokotela wezingane, isazi sezinzwa zegazi, isazi sokudla kufanele sibheke abagulayo. Labo abazi, phenylketonuria - hlobo luni lwesifo, kuyocaca ukuthi isisekelo sokwelashwa kwakhe ukulandela ukudla nokuvinjelwa kwe-phenylalanine. Ngaphezu kwalokho, imithi, ukusikhipha umzimba, umzimba we-physiotherapy, izindlela ezingokwengqondo nezindlela zokufundisa izingane, ukulungiselela ukufunda, kunqunywe.
Phenylketonuria - ukudla
Lapho kutholakala "phenylketonuria", ukudla ingane kunqunywe ngokushesha. Kusukela ekudleni, ukudla okucebile amaprotheni (inyama, inhlanzi, imikhiqizo yobisi, izithelo zommbila, amantongomane nabanye) akhishwe. Isidingo samaprotheni siyahlawulwa ngenxa yokuxuba okukhethekile okudliwayo neminye imikhiqizo nge-berlofen - semisynthetic amaprotheni hydrolyzate, engenakho ngokuphelele i-phenylalanine (iTetrafen, Lofenalak, Nofelan). Iziguli zithatha isinkwa esingenamaprotheni, i-pasta, okusanhlamvu, ama-mousses njalonjalo. Ukubeletha kwenziwa ngokulinganisa okulinganiselwe.
Ukunamathela ngokuqinile ekudleni ngokuqapha ngokujwayelekile okuqukethwe kwe-phenylalanine egazini phakathi neminyaka yokuqala engu-14-15 yokuphila kuvimbela ukuthuthukiswa kwengqondo engavamile. Khona-ke ukudla kuncane kakhulu, kodwa ochwepheshe abaningi batusa ukugcina impilo yonke yokudla okukhethekile. I-cofactor ifomu ye-phenylketonuria ayiphathwa ngokudla, kodwa iqondiswa kuphela ngokuphathwa kwamalungiselelo e-tetrahydrobiopterin.
I-Phenylketonuria - izidakamizwa zokwelashwa
Ukwelashwa kwe-Phenylketonuria ezinganeni kuhlinzekela nokudla kwezidakamizwa ezithile, kubandakanya:
- ama-nootropics ( iPiracetam , i-Cerebrolysin);
- amavithamini weqembu B;
- izinsimbi zamaminerali;
- izidakamizwa zokuthuthukisa isisindo samathambo (ATP, Riboxin );
- izidakamizwa ezithuthukisa i-microcirculation (Trental, Pentoxifylline).
Phenylketonuria - ukubikezelwa kokuphila kanye nezifo
Abazali abazi ngokwabo ukuthi hlobo luni lwesifo sofuzo - phenylketonuria, ezimweni zanamuhla banikezwa ithuba lokukhulisa ingane enempilo, uma ulandela yonke imiyalelo yezokwelapha. Uma ukwelashwa okulungile kungatholakali, ukuphazamiseka kwe-phenylketonuria kuyadumaza: iziguli zihlala iminyaka engaba ngu-30 ngokuntuleka okukhulu kwengqondo kanye nokuphazamiseka okuningi kokusebenza.