Uvuyo oluvayo xa ujonge umntwana wakho osandul’ ukuzalwa alunakuchazwa, akunjalo? Kodwa ke, xa usiva ngezinye zeemvavanyo ezenziwa esibhedlele emva kokuba umntwana ezelwe, uziva usoyika kwaye unomdla. Olunye uvavanyo olunjalo luvavanyo lwe-PKU. Usenokuba awuzange uve ngeli gama. Kodwa olu luvavanyo olubaluleke kakhulu. Namhlanje sithetha ngesi simo singaqhelekanga esibizwa ngokuba yi-PKU, kodwa ukuba sichongiwe kwangethuba, sinokulawulwa ngokupheleleyo kwaye umntwana angaphila ubomi obusempilweni.
Ngamafutshane, yintoni i-PKU (iPhenylketonuria)?
I-PKU, okanye iPhenylketonuria, sisifo esingaqhelekanga semfuza . Sifunyanwa ngabazali. Umntwana onesi sifo akanakuyigaya kakuhle, okanye ayiqhekeze kakuhle i-amino acid i-phenylalanine, efumaneka ekutyeni kweproteni esikutyayo.
Cinga ngemizimba yethu njengefektri enkulu. Ukutya esikutyayo zizinto ezisetyenziswayo esizifaka kuyo. Ezi zinto zisetyenziswa ngabasebenzi abancinci ababizwa ngokuba zii-enzymes ukwenza izinto ezifunwa yimizimba yethu. Umntwana one-PKU akanamveliso ingako okanye akanayo kwaphela i-enzyme ekhethekileyo ebizwa ngokuba yi-phenylalanine hydroxylase (PAH), eqhekeza i-phenylalanine.
Kwenzeka ntoni ke ngoko? I-Phenylalanine, efumaneka kubisi lwebele kwaye kamva ekutyeni okutyiwa ngumntwana, iqala ukuqokelelana egazini endaweni yokususwa emzimbeni. Xa ubungakanani be-phenylalanine eqokelelana ngale ndlela busanda, iba yityhefu engqondweni yomntwana . Ukuba ayinyangwa, oku kungonakalisa ingqondo kwaye kubangele iingxaki ezinkulu ezifana nokukhubazeka kwengqondo kunye nokulibaziseka kokukhula.
Kodwa eyona nto ilungileyo apha kukuba kumazwe amaninzi, kuquka neSri Lanka, izibhedlele zenza olu vavanyo lwe-PKU kumntwana ngamnye ozelweyo. Ke ngoko, esi sifo sinokuchongwa kwangethuba. Ekubeni unyango lunokuqaliswa kwangethuba nje ukuba luchongwe, umntwana unethuba lokukhula ngendlela eqhelekileyo nesempilweni, ethintela ukuba iimpawu ezinzulu zingaveli.
Zithini iimpawu ze-PKU?
Usana olune-PKU lubonakala luphilile ngokupheleleyo ekuzalweni. Ngoko ke, ekuqaleni, kusenokungabikho tshintsho lubonakalayo. Ukuba alunyangwa, iimpawu ziya kuqala ukubonakala phakathi kweenyanga ezintathu ukuya kwezintandathu ubudala. Ngeli xesha, unokubona ukulibaziseka okuncinci ekukhuleni komntwana wakho.
Xa umntwana efikelela kunyaka omnye ubudala, ukuba akanyangwa, ezi mpawu zilandelayo zinokubonakala.
| Uphawu | Inkcazo |
|---|---|
| Ivumba elingaqhelekanga | Ivumba elingaqhelekanga nelinukayo elivela kumoya womntwana, ukubila, okanye umchamo. |
| Utshintsho lombala | Ulusu, iinwele, namehlo omntwana anombala okhanyayo xa ethelekiswa nabanye abantu bosapho. |
| Izifo zolusu | Izifo zesikhumba ezifana ne-eczema. |
| Ukulibaziseka kokukhula | Ubunzima nobude abunyuki ngokweminyaka (Ukulibaziseka kokukhula). |
| Ezinye iimpawu | Iimpawu ezinje ngokuhlanza, isicaphucaphu, kunye nokungcangcazela. |
| Iimpawu ezinzulu ezinokubakho ukuba azinyangwa | |
| Iingxaki zokuziphatha | Ukuzingisa rhoqo, ukuziphatha ngokungakhathali, kunye nokuzama ukuzenzakalisa. |
| Ukusebenza ngokugqithisileyo | Ukuba ngumntu okhutheleyo kakhulu ukuba ungahlala kwindawo enye. |
| Ukuxhuzula | Iimeko ezifana nokuxhuzula . |
Ukukhulelwa kumchaphazela njani umama one-PKU?
Eli linqaku elibaluleke kakhulu. Ukuba umfazi one-PKU uyakhulelwa kwaye imeko yakhe ye-PKU ayilawulwa ngelo xesha, inokuchaphazela umntwana osesibelekweni. Ukwanda kwenqanaba le-phenylalanine egazini likamama kunokulimaza umntwana.
Oku kwandisa umngcipheko wokuphuma kwesisu kwaye kunokubangela iingxaki ezahlukeneyo kumntwana ongekazalwa.
- Isifo sentliziyo esizalwa naso
- Utshintsho oluthile kwimo yobuso
- Ubunzima obuphantsi bokuzalwa
- Intloko encinci (i-microcephaly)
Kodwa ungoyiki. Ukuba une-PKU, thetha nogqirha wakho kwaye ulandele ukutya okukhethekileyo ngexesha lokukhulelwa kwakho, nawe ungaba nomntwana osempilweni ngokupheleleyo .
Kutheni i-PKU ikhula? Yintoni unobangela?
Njengoko besitshilo ngaphambili, i-PKU sisifo semfuza. Sibangelwa kukuguquka kwejini ekuthiwa yi-'PAH' emzimbeni wethu. Le jini ye-'PAH' iyalela umzimba wethu ukuba wenze i-enzyme eqhekeza i-phenylalanine. Xa kukho utshintsho kwijini, loo enzyme ayiveliswa, okanye kukho isiphene kwimveliso yayo.
Esi sifo sizuzwe njengelifa kwi-autosomal recessive pattern. Ngamafutshane, sihamba ngolu hlobo:
Ukuze umntwana abe nesi sifo, kufuneka afumane ikopi enye yejini etshintshileyo kumama nakutata wakhe . Ukuba bafumana ijini kumzali omnye kuphela, umntwana akayi kuba nesi sifo. Nangona kunjalo, loo mzali usenokuba ngumthwali waso. Oku kuthetha ukuba basenokungabi nazimpawu, kodwa banokudlulisela ijini kubantwana babo kwixesha elizayo.
Oogqirha bayixilonga njani i-PKU?
Ukuchonga i-PKU kuye kwaba lula kakhulu ngoku ngenxa yokuhlolwa kweentsana ezisandul’ ukuzalwa.
Phakathi kweeyure ezingama-24 ukuya kuma-72 emva kokuba umntwana wakho ezelwe, ugqirha okanye umongikazi esibhedlele uza kuhlaba isithende somntwana wakho ngenaliti encinci aze aqokelele amathontsi ambalwa egazi kwikhadi elikhethekileyo. Oku kubizwa ngokuba 'luvavanyo lwe-heel prick.' Le sampulu yegazi isetyenziselwa ukujonga inqanaba le-phenylalanine egazini lomntwana wakho.
Ukuba inqanaba le-phenylalanine egazini liphezulu, kwenziwa olunye uvavanyo lwegazi nomchamo ukuqinisekisa ukuxilongwa. Ngamanye amaxesha, uvavanyo lwe-genetic lunokwenziwa ukuze kuchongwe utshintsho oluthile lwe-genetic olubangela isifo.
Ziziphi iindlela zonyango ze-PKU?
Akukho nyango lwe-PKU. Nangona kunjalo, le meko inokulawulwa kakuhle ubomi bonke . Iimpawu zinokuphinda zibuye ukuba unyango luyekiswa. Unyango oluphambili kukutya okukhethekileyo kwaye ngamanye amaxesha amayeza.
1. Ukutya okukhethekileyo okune-phenylalanine encinci
Le yeyona nxalenye ibalulekileyo nephambili yolawulo lwe-PKU.Umntu one-PKU kufuneka alandele ukutya okuncinci kwi-phenylalanine ubomi bakhe bonke.
Ekubeni i-phenylalanine iyinxalenye yeproteni, ukutya okutyebileyo kwiproteni kufuneka kuncitshiswe .
- Inyama, intlanzi, inkukhu
- Amaqanda
- Ubisi kunye neemveliso zobisi (iyogathi, itshizi)
- Iinkozo ezifana neelentile kunye neetships
- Iimveliso zesoya
- Amantongomane
Nangona kunjalo, ekubeni umzimba udinga inani elithile leproteni ukuze ukhule, kuya kufuneka uthethe nogqirha wezondlo ukuze afumanise ukuba ingakanani na iproteni onokuyisebenzisa. Baza kudala isicwangciso sokutya okunesondlo esifanelekileyo kumntwana/kumntu one-PKU.
Kubaluleke kakhulu: I-'aspartame' yokwenziwa eswiti kufuneka ithintelwe ngokupheleleyo. I-Aspartame iyaqhekeka emzimbeni ukuze ivelise i-phenylalanine. Iziselo ezininzi, ukutya, iitshizi, iivithamini ezithile, kunye nesiraphu zokukhwehlela ezibhalwe 'ukutya' okanye 'ezingenashukela' zinokuba nazo. Ke ngoko, kubaluleke kakhulu ukufunda ilebheli ngononophelo ngaphambi kokuba utye okanye usele nantoni na.
Iintsana ezisandul’ ukuzalwa ezine-PKU kufuneka ziqaliswe ngefomyula ekhethekileyo engenalo i-phenylalanine ngoko nangoko.
2. Amayeza
Kwabanye abaguli abane-PKU, amayeza anokuba luncedo ukongeza ekutyeni. La mayeza afanele asetyenziswe kuphela xa kucetyiswe ngugqirha.
- I-Sapropterin dihydrochloride (Kuvan®): Eli yeza linceda abanye abaguli ukuba baphule i-phenylalanine emzimbeni. Nangona kunjalo, kufuneka uqhubeke nokulandela ukutya ngelixa usebenzisa eli yeza.
- I-Pegvaliase (Palynziq®): Le yigonyo ecetyiswayo kubantu abadala. Inika umzimba i-enzyme eqhekeza i-phenylalanine.
Ngaba kunokwenzeka ukuba uphile ubomi obuqhelekileyo une-PKU?
Ewe, kunjalo! Nangona i-PKU yimeko ehlala ixesha elide, ukuba ifunyenwe kwangethuba kwaye ilawulwa ngokufanelekileyo, impembelelo yayo kwimpilo ingancitshiswa.
Ukulandela ukutya okuneproteni ephantsi ubomi bakho bonke kunokuba nzima ngamanye amaxesha. Kodwa awuwedwa. Ugqirha wakho kunye nengcali yesondlo bahlala bekulungele ukukunceda. Kwakhona, ukujoyina amaqela enkxaso nabanye abantu abane-PKU kunokukunceda wabelane ngamava kwaye ufumane amandla.
Usenokuba ukhe wazibona iibhotile zesiselo 'sokutya' kunye neepakethi zetshungama ezityiwayo ezinesilumkiso esithi "IiPhenylketonurics: Ziqulethe i-phenylalanine." Oku kukwazisa abantu abane-PKU ukuba imveliso ine-aspartame, equlethe i-phenylalanine.
Ukuba wena okanye usapho lwakho niziva nixinezelekile malunga nesifo sakho se-PKU, ungathandabuzi ukuthetha nomcebisi wezempilo yengqondo . Impilo yengqondo ibaluleke njengempilo yomzimba.
Umyalezo Wokuya Ekhaya
- I-PKU sisifo esinokunyangeka nesilawulekayo. Musa ukuyoyika ngokungeyomfuneko.
- Ukufunyanwa kwesi sifo kwangethuba ngokuhlolwa kosana olusandul’ ukuzalwa yeyona nto ibalulekileyo ukuze kufumaneke unyango oluphumelelayo.
- Unyango oluphambili kukulandela ukutya okukhethekileyo okungenaphenylalanine ubomi bonke.
- Xa uthenga ukutya neziselo ezibhalwe 'Diet' okanye 'Sugar-free', soloko ujonga ukuba ziqulethe na i-aspartame.
- Landela imiyalelo oyinikwe ngugqirha wakho kunye nengcali yesondlo ngokuchanekileyo. Hlala unxibelelana nabo rhoqo.
- Ngolawulo olufanelekileyo, umntwana okanye umntu one-PKU unokuphila ubomi obusempilweni, obuqhelekileyo, nobonwabisayo ngokupheleleyo.
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