Ingabe ingane yakho ine-PKU? (i-Phenylketonuria) - Ake sixoxe ngalokhu ngokuningiliziwe!

Ingabe ungumama wengane esanda kuzalwa? Noma uke wezwa ukuthi othile emndenini wakho noma ingane yomngane wakho unalesi simo? Uma kunjalo, lesi sihloko sizoba sibaluleke kakhulu kuwe. Namuhla sizokhuluma nge -Phenylketonuria , noma i-PKU ngamafuphi, isimo abantu abaningi abasizwile futhi abangasijwayele, kodwa esibaluleke kakhulu ukusazi. Ungakhathazeki, sizokhuluma ngalokhu kalula, ngendlela ongayiqonda.

Kuyini i-PKU (i-Phenylketonuria)? Masiqonde kalula!

Kalula nje, i-PKU iyisimo sofuzo . Okusho ukuthi, ibangelwa ushintsho oluncane ezakhiweni zethu zofuzo. Lokhu kubangela ukuthi imizimba yethu ingaphathi kahle into ebizwa ngokuthi i-phenylalanine .

Manje cishe uyazibuza ukuthi iyini i-phenylalanine. Iyi -amino acid . Ama-amino acid afana nezitini ezincane zokwakha ezisiza ekwenzeni amaprotheni. I-Phenylalanine itholakala ekudleni okuningi esikudlayo, ikakhulukazi lokho okunamaphrotheni amaningi. Itholakala nakwezinye izinto ezinambitheka njengokwenziwa, njenge -aspartame .

Ngokuvamile, kumuntu ophilile, le phenylalanine iyahlukaniswa ibe yinani elidingekayo futhi icutshungulwe ngendlela umzimba ongayimunca ngayo. Kodwa-ke, kumuntu one-PKU, le nqubo ayenzeki kahle. Ngemuva kwalokho, le phenylalanine iqala ukuqongelela emzimbeni. Ifana nepayipi elivalekile ethangini lamanzi eligcwele amanzi. Lokhu kuqongelela yikona okubangela izinkinga. Ikakhulukazi, kungathinta intuthuko yobuchopho . Uma ingelashwa, izimo ezifana 'nokukhubazeka kwengqondo' zingase zenzeke.

Ingabe kunezinhlobo ezahlukene ze-PKU?

Yebo, kunezinhlobo eziningana ze-PKU, kuye ngokuthi ingakanani. Izimpawu ziyahlukahluka kuye ngohlobo lwayo, ikakhulukazi kulabo abangatholi ukwelashwa.

Izinhlobo ezintathu eziyinhloko zingabonakala:

• I-PKU yakudala: Lolu uhlobo olunzima kakhulu .
• I-PKU emaphakathi noma emnene: Lokhu akukubi kangako.
• I-hyperphenylalaninemia encane: Lolu uhlobo olubi kakhulu lwalesi simo. Ngisho noma kungekho ukwelashwa, laba bantu banengozi encane kakhulu yokuthola ukukhubazeka kwengqondo.

Ubani othinteka kakhulu yilesi simo se-PKU?

Ngenxa yokuthi i-PKU iyizakhi zofuzo, noma ubani onezinguquko kuzo zombili izinguqulo zezakhi zofuzo ze-PAH angahlakulela lesi simo. Ezinye izifundo ziphakamisa ukuthi abantu bomdabu baseMelika noma abaseYurophu basengozini enkulu kancane.

Enye into ebalulekile ukuthi umama okhulelwe one-PKU engalawulwa, okusho amazinga aphezulu kakhulu e-phenylalanine egazini lakhe, angaba nomntwana ongenayo i-PKU.Kungathinta intuthuko yengqondo yengane, kubangele ukukhubazeka kokuzalwa, futhi kubangele nezinye izinkinga. Ngakho-ke, kubaluleke kakhulu ukulawula i-PKU ngesikhathi sokukhulelwa.

Ivame kangakanani i-PKU?

Ngokwezibalo ezivela emazweni afana ne-United States, i-PKU ithinta cishe ingane eyodwa kweziyi-10,000 kuya kweziyi-15,000 ezisanda kuzalwa. Nakuba kunzima ukuthola izibalo eziqondile ngalokhu eSri Lanka, lesi simo singabonakala noma kuphi emhlabeni.

Ziyini izimpawu ze-PKU? Ungesabi, yazi lokhu!

Emazweni amaningi, okuhlanganisa nezinye izibhedlela eSri Lanka, ukuhlolwa kwezinsana ezisanda kuzalwa sekuvele kwenziwa ezinganeni ezisanda kuzalwa ukuze kutholakale ukuthi zine-PKU yini, okwenza kube nokwenzeka ukuhlonza isimo ngaphambi kokuba kuvele izimpawu. Ngakho-ke, ukwanda kwezimpawu okwamanje kuphansi kakhulu.

Kodwa-ke, uma lesi simo singabonwa ngandlela thile noma uma singelashwa, kungase kuvele ezinye izimpawu. Lezi yilezi:

• Izifo zesikhumba ezifana ne -eczema .
• Izinguquko esikhumbeni kanye/noma embaleni wezinwele ( isikhumba nezinwele ziba lula kunamanye amalungu omndeni).
• Usayizi wekhanda uncane kunojwayelekile (i-microcephaly) .
• Iphunga elibi elivela emoyeni, esikhumbeni, noma emchameni. Linuka njengento endala.

Izimpawu ezimbi kakhulu ezingaba khona uma zingelashwa yilezi:

• Izinkinga zokuziphatha.
• Ukulibaziseka kokukhula - Lokhu kusho ukuthi izinyathelo zokukhula komntwana, njengokumomotheka, ukuphakamisa ikhanda lakhe, nokuhamba, ziyalibaziseka.
• Ukukhubazeka kwengqondo .
• Akuvamile ukuthi kube nokuquleka okufana nesifo sokuwa .

Okubalulekile: Khumbula, eziningi zalezi zimpawu zenzeka kuphela uma zingalashwa. Namuhla, ukuhlolwa kwezingane ezisanda kuzalwa kungakubona lokhu kusenesikhathi, ngakho-ke akukho okufanele ukhathazeke ngakho.

Iyini imbangela yangempela ye-PKU?

Imbangela eyinhloko ye-PKU ukuguquka kwezakhi zofuzo ze-PAH emzimbeni wethu. Le gene ye-PAH iyala umzimba wethu ukuthi wenze i-enzyme ebizwa ngokuthi i-phenylalanine hydroxylase . Le enzyme iguqula i-amino acid i-phenylalanine, esiyidlayo, ibe amaprotheni umzimba ongawasebenzisa.

Ngakho-ke, uma lesi sakhi sofuzo se-PAH singasebenzi kahle, i-enzyme ayikhiqizwa, noma ayisebenzi kahle. Ngemuva kwalokho, i-phenylalanine evela ekudleni iqoqana emzimbeni. Umzimba wethu, ikakhulukazi ubuchopho, uzwela kakhulu ku-phenylalanine eningi. Yingakho ubuchopho bungonakala.

I-PKU idluliselwa kanjani ngezakhi zofuzo?

Kuyini i-PKU?Isimo sofuzo esizuzwa kubazali kubantwana ngendlela yokubuyisa i-autosomal. Lokhu kungase kuzwakale njengegama lesayensi, kodwa ngamazwi alula:

Cabanga nje, i-gene ebangela i-PKU ibizwa ngokuthi "p". I-gene enempilo ibizwa ngokuthi "P".

Ukuze umntwana athuthukise i-PKU, kumele athole i-gene ethi "p" evela kumama nakubaba (okungukuthi, kumele ibe yi-"pp").

Ezimweni eziningi, abazali bangaba ngabathwali balesi sakhi sofuzo se-PKU. Lokho kusho ukuthi, bangaba nalesi sakhi sofuzo njenge-"Pp". Abanazo izimpawu ze-PKU, ngoba isakhi sofuzo "P" esinempilo siyasebenza. Kodwa, bangadlulisela leso sakhi sofuzo "p" ezinganeni zabo.

Ngakho-ke, uma bobabili abazali bengabathwali (Pp x Pp), uma benengane:

• Kunethuba elingama-25% lokuthi ingane izoba ne-PKU (pp).
• Kunethuba elingu-50% lokuthi ingane izoba nomthwali (Pp) - azikho izimpawu.
• Kunethuba elingama-25% lokuthi ingane izothola izakhi zofuzo ezinempilo (PP) - akukho PKU, futhi akukho umthwali.

Yingakho kuyinto okumele ivele kubo bobabili abazali.

Wazi kanjani ukuthi une-PKU?

Ngokuvamile, i-PKU itholakala ngokuhlolwa kokuhlolwa kosana olusanda kuzalwa, okwenziwa phakathi kwamahora angama-24 kuya kwangu-72 ngemva kokuzalwa komntwana . Lokhu kuhilela ukuhlaba isithende somntwana ngenaliti encane bese uthatha amaconsi ambalwa egazi . Lokhu kuhlola izinga le-phenylalanine egazini lomntwana.

• Uma amazinga e-phenylalanine egazini lomntwana etholakala ephezulu, odokotela bazokwenza ezinye izivivinyo (ukuhlolwa kwegazi noma komchamo) ukuqinisekisa isimo se-PKU, kanye nokuthola ukuthi hlobo luni lwe-PKU.
• Ngenxa yokuthi i-PKU iyisimo sofuzo, ukuhlolwa kofuzo kungenziwa ukuze kutholakale ukuthi ukuguquka kofuzo okuqondile okubangela izimpawu.

Uma ukuhlolwa kokuhlolwa kwezingane ezisanda kuzalwa kungenziwa, i-PKU ingatholakala kunoma yimuphi ubudala, kodwa uma itholakala kusenesikhathi, kungcono.

Yiziphi izindlela zokwelapha ezitholakalayo ze-PKU?

Ukwelashwa kwe-PKU kuyinqubo yokuphila konke . Kodwa ungakhathazeki, uma kuphathwa kahle, ungaphila impilo enempilo. Ukwelashwa kungafaka:

1. Ukudla okukhethekile: Lokhu kuyinto ebaluleke kakhulu. Udinga ukudla ukudla okune-phenylalanine encane kodwa okucebile ngezinye izakhamzimba .

2. Amavithamini, amaminerali, kanye nezithasiselo zokudla okunempilo: Lokhu kuyadingeka ukuze uthole izakhamzimba ozidingayo, njengoba ukunciphisa ukudla kungaholela ekulahlekelweni ezinye izakhamzimba.

3. Imithi: Abanye abantu banganikwa imithi efana ne -sapropterin dihydrochloride (Kuvan®) . Lokhu kusiza umzimba ukuthi uhlukanise i-phenylalanine.

4. Umuthi i-Pegvaliase (Palynziq®):Abantu abathatha lo muthi bangadla ngendlela evamile ngaphandle kwemikhawulo yokudla okukhethekile. Lokhu kuthatha indawo ye-enzyme ephula i-phenylalanine engasebenzi kahle emzimbeni wabantu abane-PKU.

Uma wena noma ingane yakho ine-PKU, kufanele nisebenzisane nodokotela wakho kanye nochwepheshe wezokudla ukuze nithuthukise uhlelo lokwelapha olungcono kakhulu.

Yikuphi ukudla okuqukethe i-phenylalanine? Masiqaphele lokhu!

Abantu abane-PKU (ngaphandle kokuthi bathathe umuthi obizwa ngokuthi 'i-Pegvaliase') badinga ukunciphisa ukudla okune-phenylalanine eningi. Lokhu kutholakala ekudleni okunamaprotheni amaningi. Isibonelo:

• Ubisi nemikhiqizo yobisi (ushizi, iyogathi)
• Amaqanda
• Amantongomane (njengamantongomane, ama-cashew)
• Inhlanzi
• Inyama yenkukhu
• Inyama yenkomo
• Imifino efana nobhontshisi kanye ne-lentile
• I-Aspartame, isithako esimnandi sokwenziwa (singatholakala kwezinye iziphuzo nokudla okungenashukela)

Ingabe kukhona ukudla okukhethekile komuntu one-PKU?

Yebo, impela. Umuntu one-PKU (ongayithathi isidakamizwa i-Pegvaliase) kufanele alandele ukudla okunamaphrotheni aphansi . Ukudla okunamaphrotheni amaningi njengenyama, inhlanzi, amaqanda, nemikhiqizo yobisi kufanele kuncishiswe ngangokunokwenzeka, noma kumiswe ngokuphelele.

Kodwa lokhu akulula njengoba kubonakala. Ngoba amaprotheni abalulekile emzimbeni. Ngakho-ke, kubaluleke kakhulu ukukhuluma nodokotela noma isazi sokudla bese udala ukudla okulinganiselayo okunikeza zonke ezinye izakhamzimba ezidingwa ngumzimba. Kunezinhlobo ezikhethekile zezingane ezine-PKU, eziphansi ku-phenylalanine, kodwa ezisaqukethe ezinye izakhamzimba ezidingekayo.

Cabanga nje, unomntwana omncane ekhaya one-PKU. Kufanele uqaphele kangakanani ngokudla okumnika kona? Kufanele ubheke yonke iphakheji yokudla bese uthola ukuthi ingakanani i-phenylalanine ekuyo. Kungumhlatshelo omkhulu, kodwa kuyakufanelekela ikusasa lomntwana.

Ingabe i-PKU ingavinjelwa?

Ngenxa yokuthi i-PKU iwufuzo, ayikho indlela yokuvimbela lesi simo ukuthi singabi khona.

Kodwa-ke, uma uhlela ukukhulelwa, ungenza ukwelulekwa ngofuzo kanye nokuhlolwa kwabathwali ukuze uthole ukuthi wena nomlingani wakho ninayo yini i-PKU gene. Lokhu kuzokusiza uqonde ingozi yakho yokuba nengane ene-PKU.

Hlobo luni lwekusasa umuntu one-PKU angalulindela?

Lena inkinga abantu abaningi abanayo. Nakuba i-PKU iyisimo sokuphila konke, uma iphathwa kahle, abantu abaningi bangaphila impilo enempilo nejwayelekile.

• Ngemva kokuxilongwa, kudingeka ukuhlolwa kwegazi njalo ukuhlola izinga le-phenylalanine egazini . Lena yindlela ongathola ngayo ukuthi ukudla kulandelwa kahle nokuthi imithi isebenza kahle yini.
• Kulabo abadla ukudla okunempilo, isazi sokudla okunempiloKuwusizo kakhulu ukusebenzisana nabo eduze. Bakutshela ngqo ukuthi yikuphi ukudla okufanele ukudle, okufanele ukugweme, nokuthi ungakuthola kanjani ukudla okunomsoco okudingwa ngumzimba wakho.
• Uma owesifazane one-PKU ekhulelwa, udokotela wakhe kanye nochwepheshe wezokudla bazosebenzisana ukudala uhlelo lokudla olukhethekile oluzoqinisekisa ukuthi umama uthola ukudla akudingayo ngenkathi kunciphisa noma yikuphi ukulimala okungaba khona enganeni.

Ngingazivikela kanjani mina/ingane yami ku-PKU?

Ukuxilongwa kwe-PKU kuyisimo esihlala isikhathi eside, ngakho-ke kubalulekile ukuhlala uxhumana nodokotela wakho njalo futhi uqaphe amazinga e-phenylalanine egazini lakho.

• Uma udla ukudla okunempilo, thatha amavithamini kanye nezithasiselo ezidingekayo ukuze ulungise ukuntuleka kwamaprotheni.
• Landela lokhu kudla impilo yakho yonke. Ngaphandle kwalokho, izimpawu zingase ziphinde zibuye futhi zibe yingozi empilweni yakho.
• Uma ucabanga ukuqala umndeni, khuluma nodokotela wakho mayelana nokuhlolwa kofuzo , okungakusiza uqonde ingozi yakho yokuba nengane ene-PKU.

Kufanele ubonane nini nodokotela?

• Uma wena noma ingane yakho nithola izimpawu ezihlobene ne-PKU (lezo esixoxe ngazo ekuqaleni), bona udokotela ngokushesha ukuze ahlolwe ngokuphelele.
• Ngaphambi kokuba ukhulelwe, noma ekuqaleni kokukhulelwa kwakho, ungabuza udokotela wakho mayelana nokuhlolwa kwegciwane , okungakusiza wena nomlingani wakho ukuthola ukuthi nisengozini yokuthola ingane ene-PKU.
• Uma une-PKU, bona udokotela wakho njalo ukuze ahlolwe igazi futhi aqashwe.

Yimiphi imibuzo okufanele ngiyibuze udokotela wami?

Uma unemibuzo mayelana ne-PKU noma isimo se-PKU sengane yakho, ungesabi ukubuza. Nazi ezinye izibonelo:

• "Ngingaqinisekisa kanjani ukuthi ingane yami ithola ukudla okunempilo okufanele ukuze ihlale iphilile?"
• "Ingabe mina/ingane yami kudingeka ngithathe amanye amavithamini noma izithasiselo zokudla okunempilo?"
• "Ingabe ukudla okunamaphrotheni aphansi kwanele ukunciphisa amazinga e-phenylalanine engane yami/yami, noma ingabe ngidinga ukuthatha imithi futhi?"
• "Yiziphi izinto okufanele ngiziqaphele lapho ngilungisa lesi sidlo esikhethekile?"
• "Uma ingane iya esikoleni, isikole kufanele saziswe kanjani ngokudla neziphuzo zayo?"

Ekuqaleni, ukukhetha ukudla okungenayo i-phenylalanine kungaba nzima kancane, kodwa njengoba usebenza nodokotela wakho kanye nochwepheshe wezokudla, uzojwayela.

Okokugcina, ezinye izinto ezibalulekile okufanele uzikhumbule (Umyalezo Wokuya Ekhaya)

Nakuba i-PKU iyisimo esihlala isikhathi eside, ingaphathwa ngempumelelo. Isihluthulelo ukuyibona kusenesikhathi bese uyiphatha kahle.

• Ukuhlolwa kwezinsana kubaluleke kakhulu. Kungabona ezinye izifo ezifana ne-PKU kusenesikhathi.
• Uma nje uthola ukuthi une-PKU, qiniseka ukuthi ufuna iseluleko sezokwelapha kanye nesiqondiso sikachwepheshe wezokudla .
• Ukunamathela ngokuqinile ekudleni, futhi uma kudingeka, imithi impilo yonke kubalulekile ekukhuleni okunempilo kobuchopho bakho noma bomntwana wakho.
• Qapha amazinga akho e-phenylalanine ngokuhlolwa kwegazi njalo .
• Awuwedwa. Ukuxhumana nabanye abantu abane-PKU kanye nemindeni yabo kungaba umthombo omkhulu wamandla nesikhuthazo kuwe emaqenjini okusekelana .
• Uma ungumzali wengane ene-PKU, fundisa ingane yakho ukuthi iphile nalesi simo ngesineke nangothando .

Ngiyethemba ukuthi lolu lwazi lukusizile ukuthi uqonde kangcono i-PKU (i-Phenylketonuria). Khumbula, ukuqwashisa kuyisikhali esingcono kakhulu sokulwa nanoma iyiphi inkinga yezempilo!

I - PKU, i-Phenylketonuria, i-phenylalanine, izifo zofuzo, izinsana ezisanda kuzalwa, ukudla, ukudla okunephrotheni ephansi, ukuhlolwa kwezingane ezisanda kuzalwa