Injabulo oyizwayo uma ubheka ingane yakho esanda kuzalwa ayichazeki, akunjalo? Kodwa-ke, uma uzwa ngezinye zezivivinyo ezenziwa esibhedlela ngemva kokuzalwa kwengane, uzizwa wesaba futhi unelukuluku. Esinye sezivivinyo ezinjalo ukuhlolwa kwe-PKU. Kungenzeka ukuthi awukaze uzwe ngaleli gama. Kodwa lesi isivivinyo esibaluleke kakhulu. Namuhla sikhuluma ngalesi simo esingavamile esibizwa ngokuthi i-PKU, kodwa uma sitholakala kusenesikhathi, singalawulwa ngokuphelele futhi ingane ingaphila impilo enempilo.
Kalula nje, iyini i-PKU (i-Phenylketonuria)?
I-PKU, noma i-Phenylketonuria, iyisifo esingavamile sofuzo . Sizuzwe ngabazali. Ingane enalesi simo ayikwazi ukugaya kahle, noma ukuphula, i-amino acid phenylalanine, etholakala ekudleni kwamaprotheni esikudlayo.
Cabanga ngemizimba yethu njengefektri enkulu. Ukudla esikudlayo yizinto zokusetshenziswa esizifaka kuyo. Lezi zinto zokusetshenziswa zisetshenziswa izisebenzi ezincane ezibizwa ngama-enzyme ukwenza izinto ezidingwa yimizimba yethu. Ingane ene-PKU ayinawo umkhiqizo omningi noma ayinawo nhlobo umkhiqizo we-enzyme ekhethekile ebizwa ngokuthi i-phenylalanine hydroxylase (PAH), ephula i-phenylalanine.
Ngakho-ke kwenzekani? I-Phenylalanine, etholakala obisini lwebele futhi kamuva ekudleni okudliwa yingane, iqala ukunqwabelana egazini esikhundleni sokukhishwa emzimbeni. Lapho inani le-phenylalanine elinqwabelana ngale ndlela landa, liba yingozi ebuchosheni bomntwana . Uma lingelashwa, lokhu kungalimaza ubuchopho futhi kubangele izinkinga ezinkulu njengokukhubazeka kwengqondo kanye nokubambezeleka kokukhula.
Kodwa into engcono kakhulu lapha ukuthi emazweni amaningi, okuhlanganisa neSri Lanka, izibhedlela zenza lolu vivinyo lwe-PKU kuwo wonke umntwana ozelwe. Ngakho-ke, lesi sifo singatholakala kusenesikhathi. Njengoba ukwelashwa kungaqalwa ngokushesha nje lapho kutholakala, umntwana unethuba lokukhula ngendlela evamile nenempilo, evimbela izimpawu ezinkulu ukuthi zingaveli.
Ziyini izimpawu ze-PKU?
Ingane ene-PKU ibukeka iphilile ngokuphelele ekuzalweni. Ngakho-ke, ekuqaleni, kungase kungabi khona izinguquko ezibonakalayo. Uma ingelashwa, izimpawu zizoqala ukuvela phakathi kwezinyanga ezintathu neziyisithupha ubudala. Phakathi nalesi sikhathi, ungase uqaphele ukubambezeleka okuncane ekukhuleni kwengane yakho.
Ngesikhathi umntwana esenonyaka owodwa ubudala, uma engelashwa, izimpawu ezilandelayo zingase zibonakale.
| Isibonakaliso | Incazelo |
|---|---|
| Iphunga elingavamile | Iphunga elingavamile, elinobuthi elivela ekuphefumuleni komntwana, ekujulukeni, noma emchameni. |
| Izinguquko zombala | Isikhumba, izinwele, namehlo engane kunombala okhanyayo uma kuqhathaniswa nabanye emndenini. |
| Izifo zesikhumba | Izifo zesikhumba ezifana ne-eczema. |
| Ukukhubazeka kokukhula | Isisindo nokuphakama akukhuphuki ngokulingana nobudala (ukubambezeleka kokukhula). |
| Ezinye izici | Izimpawu ezifana nokuhlanza, isicanucanu, nokuthuthumela. |
| Izimpawu ezinkulu ezingaba khona uma zingelashwa | |
| Izinkinga zokuziphatha | Ukuzulazula njalo, ukuziphatha okungenangqondo, kanye nemizamo yokuzilimaza. |
| Ukusebenza ngokweqile | Ukuba matasa kakhulu ukuba ungahlali endaweni eyodwa. |
| Ukuquleka | Izimo ezifana nokuquleka . |
Ukukhulelwa kumthinta kanjani umama one-PKU?
Leli iphuzu elibaluleke kakhulu. Uma owesifazane one-PKU ekhulelwa futhi isimo sakhe se-PKU singalawulwa phakathi naleso sikhathi, singathinta ingane esibelethweni. Izinga elikhuphukile le-phenylalanine egazini likamama lingalimaza ingane.
Lokhu kwandisa ingozi yokuphuphuma kwesisu futhi kungabangela nezinkinga ezahlukahlukene enganeni engakazalwa.
- Isifo senhliziyo esizalwa naso
- Izinguquko ezithile esimweni sobuso
- Isisindo esiphansi sokuzalwa
- Ikhanda elincane (i-microcephaly)
Kodwa ungesabi. Uma une-PKU, khuluma nodokotela wakho futhi ulandele ukudla okukhethekile phakathi nokukhulelwa kwakho, nawe ungaba nomntwana ophile kahle ngokuphelele .
Kungani i-PKU ikhula? Iyini imbangela?
Njengoba sixoxile ngaphambili, i-PKU iyisifo esibangelwa izakhi zofuzo. Ibangelwa ukuguquka kwezakhi zofuzo okuthiwa i-'PAH' emzimbeni wethu. Lesi sakhi sofuzo se-'PAH' siyala umzimba wethu ukuthi wenze i-enzyme ephula i-phenylalanine. Uma kukhona ukuguquka kwezakhi zofuzo, leyo enzyme ayikhiqizwa, noma kukhona iphutha ekukhiqizweni kwayo.
Lesi sifo sizuzwa njengefa ngendlela yokuvuvukala kwe-autosomal. Kalula nje, sihamba kanje:
Ukuze ingane ibe nalesi sifo, kumele ithole ikhophi eyodwa yesakhi sofuzo esishintshiwe kunina nakuyise . Uma ithola isakhi sofuzo kumzali oyedwa kuphela, ingane ngeke ibe naso lesi sifo. Kodwa-ke, lowo mzali angase abe ngumthwali waso. Lokhu kusho ukuthi kungenzeka angabi nazimpawu, kodwa angadlulisela isakhi sofuzo ezinganeni zakhe esikhathini esizayo.
Odokotela bayixilonga kanjani i-PKU?
Ukuhlonza i-PKU sekulula kakhulu manje ngenxa yokuhlolwa kwezinsana.
Phakathi kwamahora angama-24 kuya kwangama-72 ngemva kokuzalwa komntwana wakho, udokotela noma umhlengikazi esibhedlela uzohlaba isithende somntwana wakho ngenaliti encane bese eqoqa amaconsi ambalwa egazi ekhadini elikhethekile. Lokhu kubizwa ngokuthi 'ukuhlolwa kwe-heel prick.' Leli sampula legazi lisetshenziselwa ukuhlola izinga le-phenylalanine egazini lomntwana wakho.
Uma izinga le-phenylalanine egazini liphezulu, kwenziwa ukuhlolwa okwengeziwe kwegazi nomchamo ukuqinisekisa ukuxilongwa. Ngezinye izikhathi, ukuhlolwa kofuzo kungenziwa ukuze kutholakale ushintsho oluthile lofuzo olubangela lesi sifo.
Yiziphi izindlela zokwelapha i-PKU?
Akukho ukwelashwa kwe-PKU. Kodwa-ke, lesi simo singaphathwa kahle impilo yonke . Izimpawu zingase zibuye uma ukwelashwa kuyekwa. Ukwelashwa okuyinhloko ukudla okukhethekile futhi ngezinye izikhathi imithi.
1. Ukudla okukhethekile okune-phenylalanine encane
Lena yingxenye ebaluleke kakhulu neyinhloko yokuphathwa kwe-PKU.Umuntu one-PKU kumele alandele ukudla okungenayo i-phenylalanine impilo yakhe yonke.
Njengoba i-phenylalanine iyingxenye yamaprotheni, ukudla okucebile ngamaprotheni kudingeka kulinganiselwe .
- Inyama, inhlanzi, inkukhu
- Amaqanda
- Ubisi nemikhiqizo yobisi (iyogathi, ushizi)
- Okusanhlamvu okufana ne-lentile kanye noshizi
- Imikhiqizo yesoya
- Amantongomane
Kodwa-ke, njengoba umzimba udinga inani elithile lamaprotheni ukuze ukhule, kufanele ukhulume nochwepheshe wezokudla ukuze anqume ukuthi ungadla amaprotheni angakanani. Bazokwakha uhlelo lokudla okunempilo olufanele ingane/umuntu one-PKU.
Kubaluleke kakhulu: I-'aspartame' yokwenziwa emnandi kufanele igwenywe ngokuphelele. I-Aspartame iyaqhekeka emzimbeni ukuze ikhiqize i-phenylalanine. Iziphuzo eziningi, ukudla, izinsini zokuhlafuna, amavithamini athile, kanye nesiraphu sokukhwehlela esibhalwe ukuthi 'ukudla' noma 'ukungabi noshukela' singase sibe nayo. Ngakho-ke, kubaluleke kakhulu ukufunda ilebula ngokucophelela ngaphambi kokudla noma ukuphuza noma yini.
Izinsana ezisanda kuzalwa ezine-PKU kufanele ziqalwe ngefomula ekhethekile engenayo i-phenylalanine ngokushesha.
2. Imithi
Kwabanye abaguli abane-PKU, imithi ingaba usizo ngaphezu kokudla. Le mithi kufanele isetshenziswe kuphela ngokunconywa udokotela.
- I-Sapropterin dihydrochloride (Kuvan®): Lo muthi usiza ezinye iziguli ukuthi zihlukanise i-phenylalanine emzimbeni. Kodwa-ke, kufanele uqhubeke nokulandela ukudla ngenkathi uthatha lo muthi.
- I-Pegvaliase (Palynziq®): Lona umuthi wokugomela onconywa iziguli ezindala. Uhlinzeka umzimba nge-enzyme ephula i-phenylalanine.
Kungenzeka yini ukuphila impilo evamile nge-PKU?
Yebo, kunjalo ngempela! Nakuba i-PKU iyisimo esihlala isikhathi eside, uma itholakala kusenesikhathi futhi iphathwa kahle, umthelela wayo empilweni ungancishiswa.
Ukulandela ukudla okunamaphrotheni aphansi impilo yakho yonke kungaba yinselele ngezinye izikhathi. Kodwa awuwedwa. Udokotela wakho kanye nochwepheshe wezokudla bakhona njalo ukukusiza. Futhi, ukujoyina amaqembu okusekelana nabanye abantu abane-PKU kungakusiza ukuthi wabelane ngolwazi futhi uthole amandla.
Kungenzeka ukuthi uke wabona amabhodlela eziphuzo 'zokudla' kanye namaphakethe e-chewing gum anesexwayiso esithi "I-Phenylketonurics: Iqukethe i-phenylalanine." Lokhu kwenzelwa ukwazisa abantu abane-PKU ukuthi umkhiqizo uqukethe i-aspartame, equkethe i-phenylalanine.
Uma wena noma umndeni wakho nizizwa nicindezelekile ngesimo se-PKU yakho, ungangabazi ukukhuluma nomeluleki wezempilo yengqondo . Impilo yengqondo ibaluleke njengempilo yomzimba.
Umlayezo Wokuya Nawe Ekhaya
- I-PKU iyisifo sofuzo esingelapheka futhi esingalawuleka. Ungayesabi ngokungadingekile.
- Ukutholwa kwalesi sifo kusenesikhathi ngokuhlolwa kwezingane ezisanda kuzalwa kuyisihluthulelo sokwelashwa okuphumelelayo.
- Ukwelashwa okuyinhloko ukulandela ukudla okukhethekile okungenayo i-phenylalanine impilo yonke.
- Uma uthenga ukudla neziphuzo ezibhalwe ukuthi 'Ukudla' noma 'Okungenashukela', hlola njalo ukuthi ziqukethe i-aspartame.
- Landela imiyalelo enikezwe udokotela wakho kanye nochwepheshe wezokudla. Hlala uxhumana nabo njalo.
- Ngokuphathwa okufanele, ingane noma umuntu one-PKU angaphila impilo enempilo ngokuphelele, evamile, nejabulisayo.
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