Konke Mayelana ne-Phenylketonuria (PKU) kusuka kwifa le-Treatment
Sibutsetelo
I-Phenylketonuria (i-fen-ul-keetone-YU-ree-ah, noma i-PKU) iyisifo esiwumzuzwana esiwumzuzwana lapho umzimba ungenakuqeda ngokuphelele amaprotheni (amino acid) phenylalanine. Lokhu kwenzeka ngoba i-enzyme edingekayo, i-phenylalanine hydroxylase, ayilutho. Ngenxa yalokhu, i-phenylalanine yakha amangqamuzana omzimba futhi ibangela isimiso sezinzwa nokulimala komqondo.
I-Phenylketonuria yisifo esithathelwanayo esingatholakala kalula ngokuhlolwa kwegazi okulula. E-United States, zonke izinsana ezisanda kuzalwa zidingeke zihlolwe i-PKU njengengxenye yokuhlolwa kwesisindo somzimba kanye nezakhi zofuzo ezenziwe kuzo zonke izinsana . Zonke izingane ezisanda kuzalwa e-United Kingdom, eCanada, e-Australia, eNew Zealand, eJapane, emazweni aseNtshonalanga naseMpumalanga Yurophu yaseMpumalanga, nakwamanye amazwe amaningi emhlabeni wonke, zivivinywa futhi.
(Ukuhlolwa kwe-PKU ezinganeni ezingakabiphi kuhlukile futhi kunzima ngezizathu eziningana.)
Unyaka ngamunye izingane eziyizinkulungwane ezingu-10 kuya ku-15 000 zizalwa ngesifo e-United States nasePhenylketonuria zenzeka kubo bobabili besilisa nabesifazane bazo zonke izinhlanga (nakuba kuvame kakhulu kubantu baseNyakatho Yurophu naseMelika yaseMelika.)
Izimpawu
Insana ezalwe nge phenylketonuria izokhula ngokujwayelekile ezinyangeni ezimbalwa zokuqala. Uma ishiywe ingalashwa, izimpawu ziqala ukukhula ezinyangeni ezintathu kuya kweziyisithupha ubudala futhi zingabandakanya:
- Ukuthuthukiswa okwesikhashana
- Ukuphuza kwengqondo
- Ukuzizwa
- Isikhumba esinomile kakhulu, i- eczema , kanye nemisipha
- Iphunga elimangalisayo elithi "umswakama" noma "u-musty" iphunga lomchamo, umoya nomswakama
- Ukukhanya okukhanyayo, izinwele ezikhanyayo noma ezibomvu
- Ukwehliswa, ukungazitholi, ukungahloniphi
Ukuxilongwa
I-Phenylketonuria itholakala ngokuhlolwa kwegazi, ngokuvamile njengengxenye yemizamo yokuhlolwa yokuhlola okunikezwa kusana olusanda kuzalwa ezinsukwini ezimbalwa zokuqala zokuphila.
Uma i-PKU ikhona, izinga le-phenylalanine lizobe liphakeme kunelojwayelekile egazini.
Isivivinyo sinembile kakhulu uma senziwa lapho usana lungaphezu kwamahora angama-24 ubudala kepha lungaphansi kwezinsuku eziyisikhombisa ubudala. Uma usana luvivinywa ngaphansi kwamahora angu-24 ubudala, kunconywa ukuthi ukuhlolwa kuphindwe lapho usana luyiviki elilodwa ubudala. Njengoba kuphawuliwe ngenhla, abantwana abengaphambi kwesikhathi kudingeka bahlolwe ngendlela ehlukile ngezizathu eziningana kubandakanya ukulibaziseka kokudla.
Ukwelapha
Ngenxa yokuthi i-phenylketonuria yinkinga yokuqeda i-phenylalanine, usana lunikezwa ukudla okukhethekile okuphansi kakhulu ku-phenylalanine.
Ekuqaleni, isisombululo esincane esincane se-phenylalanine (Lofenalac) sisetshenziswa.
Njengoba ingane ikhula, ukudla okuncane-phyylalanine kunezelwa ekudleni, kodwa akukho ukudla okunama-protein amaningi okufana nobisi, amaqanda, inyama, noma inhlanzi evunyelwe. I-sweetenerener aspartame (NutraSweet, Equal) iqukethe i-phenylalanine, ngakho-ke ukuphuza iziphuzo nokudla okuqukethe i-aspartame nakho kugwenywe. Cishe uke wazi indawo kuleziphuzo ezithambile, ezifana nokudla kwe-Coke, okubonisa ukuthi umkhiqizo akufanele usetshenziswe abantu abane-PKU.
Abantu kumele bahlale ekudleni kwe-phenylalanine ngesikhathi besencane nasebusheni.
Abanye abantu bayakwazi ukunciphisa imikhawulo yabo yokudla njengoba bekhula.
Ukuhlolwa kwegazi njalo kuyadingeka ukuze kulinganise amazinga e-phenylalanine, futhi ukudla kungadinga ukulungiswa uma amazinga ephakeme kakhulu. Ngaphandle kokudla okunomkhawulo, abanye abantu bangathatha umuthi we-Kuvan (sapropterin) ukusiza amazinga e-phenylalanine ephansi egazini.
Ukuqapha
Njengoba kuphawuliwe, ukuhlolwa kwegazi kusetshenziselwa ukuqapha abantu abane-PKU. Esikhathini samanje iziqondiso zincoma ukuthi ukuhlushwa kwegazi okuhloswe kwe-phenylalanine kufanele kube phakathi kuka-120 no-360 UM kubantu abanama-PKU abo bonke ubudala. Ngesinye isikhathi umkhawulo ophakeme ngaphezu kuka-600 M uvumelekile kubantu abadala. Nokho, abesifazane abakhulelwe kudingeka balandele ukudla kwabo ngokuqinile, futhi izinga eliphezulu lika-240M liphakanyisiwe.
Ucwaningo olubheke ukulandelwa (inani labantu abalandela ukudla kwabo futhi bahlangabezana nale mihlahlandlela) lingamaphesenti angu-88 ezinganeni eziphakathi kokuzalwa nezineminyaka ezine, kodwa kuphela amaphesenti angu-33 kulabo abaneminyaka engama-30 nangaphezulu.
Indima yezokwelapha
I-PKU isifo esiwumzimba esidluliselwa kubazali kuya ezinganeni. Ukuze ube ne-PKU, ingane kufanele izuze i-PKU yokuguqula izakhi ezithile ezivela kumzali ngamunye . Uma ingane izuza ifulegi kumzali oyedwa, khona-ke ingane nayo ithwala izakhi zofuzo zePKU kodwa empeleni ayinayo i-PKU.
Labo abadla ifa elilodwa lokuguqulwa kwezakhi zofuzo abazange bahlakulele i-PKU, kodwa bangadlulisela isimo kubantwana babo (kube yithwala) Uma abazali ababili bephethe isakhi, banamathuba angu-25 okuba nengane enePKU, 25 amaphesenti amathuba ukuthi ingane yabo ngeke ithuthukise i-PKU noma ibe yithwala, futhi amaphesenti angama-50 amathuba okuthi ingane yabo nayo iyoba ngumthwali wesifo.
Uma i-PKU itholakala enganeni, leyo ngane kufanele ilandele uhlelo lokudla lwe-PKU kuwo wonke ukuphila kwayo.
I-PKU ekukhulelweni
Abesifazane abasebasha abane-phenylketonuria abangadli ukudla okuphethwe yi-phenylalnine bayoba namazinga aphezulu e-phenylalanine uma bekhulelwa. Lokhu kungaholela ezinkingeni ezinkulu zezokwelapha ezibizwa ngokuthi i-PKU syndrome yengane, kuhlanganise nokuphuza kwengqondo, ukuzala okuphansi, ukukhubazeka kwenhliziyo, noma ezinye izinkinga zokuzalwa . Kodwa-ke, uma le ntombazane iqala kabusha ukudla okuphansi-phyylalanine okungenani izinyanga ezintathu ngaphambi kokukhulelwa, futhi iyaqhubeka nokudla ngesikhathi sonke sokukhulelwa, i-PKU syndrome ingavinjelwa. Ngamanye amazwi, ukukhulelwa okunempilo kunokwenzeka kubantu besifazane abane-PKU uma nje behlela phambili futhi baqaphe ngokucophelela ukudla kwabo konke ukukhulelwa.
Ucwaningo
Abacwaningi babheka izindlela zokulungisa i-phenylketonuria, njengokufaka esikhundleni segciwane elingalungile elibhekene nale disorder noma ukudala i-enzyme eyenziwe ngokofuzo ukuze ithathe indawo eyodwa. Ososayensi bafunda nezinhlanganisela zamakhemikhali ezifana ne-tetrahydrobiopterin (BH4) nama-amino acids angathathi hlangothi njengezindlela zokwelapha i-PKU ngokunciphisa izinga le-phenylalanine egazini.
Ukubhekana
Ukubhekana ne-PKU kunzima futhi kudinga ukuzibophezela okukhulu ngoba kuyinto yokuphila isikhathi eside. Ukusekela kungaba usizo futhi kunamaqembu amaningi asekela kanye nemiphakathi yokusekela etholakalayo lapho abantu bengakwazi khona ukuxhumana nabanye ababhekana no-PKU kokubili ukusekelwa ngokomzwelo nokuhlala kusesimweni socwaningo lwamuva.
Kunezinhlangano eziningana, futhi, ukuthi yikuphi umsebenzi wokusekela abantu abane-PKU futhi uxhashe ucwaningo ukuze uthole ukwelashwa okungcono. Ezinye zazo zihlanganisa i-National Society ye-Phenylketonuria, i-National PKU Alliance (ingxenye yenhlangano ye-NORD, i-National Organization for Rare Disorders, ne-PKU Foundation. Ngaphandle kokucwaninga ngemali, lezi zinhlangano zinikeza usizo olungase lube nokusiza ukuthengwa kwefomula ekhethekile edingekayo ezinsaneni ezine-PKU, ukuhlinzeka ngolwazi ukusiza abantu bafunde futhi baqonde indlela yabo ekuqondeni i-PKU nokuthi kusho ukuthini empilweni yabo.
Imithombo:
Jurecki, E., Cederbaum, S., Kopesky, J. et al. Ukuvumelana Nezincomo Zomtholampilo Phakathi Kwabagulayo abane-Phenylketonuria e-United States. I-genetic i-molecular and metabolism . 2017 Jan 6. (Epub ngaphambi kokuphrinta).
UVan Spronsen, F., van Wegberg, A., Ahring, K. et al. Izinkombandlela eziyinhloko zaseYurophu zokuHlola kanye nokuPhathwa kweziguli ezinePhenylketonuria. I-Lancet yesifo sikashukela ne-Endocrinology . 2017 Jan 9. (Epub ngaphambi kokuphrinta).
UVockley, J., Andersson, J., Antshel, K. et al. Ukwelashwa kwe-Phenylalanine Hydroxylase: Isiqondiso Sokuqondisisa Nokuphathwa. I-Genetic in Medicine . 2014. 16 (2): 188-200.