Ingaba umntwana wakho une-PKU? (iPhenylketonuria) - Makhe sithethe ngale nto ngokweenkcukacha!

Ingaba ungumama wosana olusandul’ ukuzalwa? Okanye ngaba ukhe weva ukuba kukho umntu kusapho lwakho okanye umntwana womhlobo wakho onayo le meko? Ukuba kunjalo, eli nqaku liza kuba libaluleke kakhulu kuwe. Namhlanje siza kuthetha ngePhenylketonuria , okanye i-PKU ngamafutshane, imeko abantu abaninzi abaye beva ngayo kwaye abakayiqhelanga, kodwa ibaluleke kakhulu ukuyazi. Ungakhathazeki, siza kuthetha ngayo ngokulula, ngendlela onokuyiqonda.

Yintoni i-PKU (iPhenylketonuria)? Masiyiqonde ngokulula!

Ngamafutshane, i-PKU yimeko yemfuza . Oko kukuthi, ibangelwa lutshintsho oluncinci kwiimfuza zethu. Oku kubangela ukuba imizimba yethu ingakwazi ukuphatha kakuhle into ebizwa ngokuba yi-phenylalanine .

Ngoku mhlawumbi uyazibuza ukuba yintoni i-phenylalanine. Yi -amino acid . Ii-amino acids zifana neebhloko ezincinci zokwakha ezinceda ekwenzeni iiproteni. I-Phenylalanine ifumaneka kukutya okuninzi esikutyayo, ingakumbi oko kuphezulu kwiproteni. Ikwafumaneka nakwezinye izinto eziswiti ezenziweyo, ezifana ne -aspartame .

Ngokwesiqhelo, kumntu ophilileyo, le phenylalanine iyahlulwa ibe yimali efunekayo kwaye icutshungulwe ngendlela umzimba onokuyifumana ngayo. Nangona kunjalo, kumntu one-PKU, le nkqubo ayisebenzi kakuhle. Emva koko, le phenylalanine iqala ukuqokelelana emzimbeni. Ifana nombhobho ovalekileyo kwitanki yamanzi ozaliswa ngamanzi. Oku kuqokelelana yikona okubangela iingxaki. Ngokukodwa, kunokuchaphazela uphuhliso lobuchopho . Ukuba ayinyangwa, iimeko ezifana 'nokukhubazeka kwengqondo' zinokwenzeka.

Ngaba kukho iintlobo ezahlukeneyo ze-PKU?

Ewe, kukho iintlobo ezahlukeneyo ze-PKU, kuxhomekeke kubunzima bayo. Iimpawu ziyahluka ngokuxhomekeke kuhlobo lwayo, ingakumbi kwabo bangafumani nyango.

Iintlobo ezintathu eziphambili zinokuchongwa:

• I-PKU yakudala: Le yeyona ndlela inzima kakhulu .
• I-PKU ephakathi okanye engaphantsi: Le ayinzima kangako.
• I-hyperphenylalaninemia encinci: Olu lolona hlobo lubi kakhulu lwesi sifo. Nokuba bengenalo unyango, aba bantu banomngcipheko omncinci wokukhubazeka kwengqondo.

Ngubani ochaphazeleka kakhulu yile meko ye-PKU?

Ngenxa yokuba i-PKU ihambelana nemfuza, nabani na one-mutations kuzo zombini iikopi ze-PAH gene unokufumana le meko. Ezinye izifundo zibonisa ukuba abantu bomthonyama baseMelika okanye abaseYurophu basengozini enkulu kancinci.

Enye into ebalulekileyo kukuba umama okhulelweyo one-PKU engalawulekiyo, oko kuthetha ukuba amanqanaba aphezulu kakhulu e-phenylalanine egazini lakhe, angaba nomntwana ongenayo i-PKU.Ingachaphazela ukukhula kwengqondo yomntwana, ibangele iziphene zokuzalwa, kwaye ibangele nezinye iingxaki. Ngoko ke, kubaluleke kakhulu ukulawula i-PKU ngexesha lokukhulelwa.

Ixhaphake kangakanani i-PKU?

Ngokwezibalo ezivela kumazwe afana ne-United States, i-PKU ichaphazela malunga ne- 1 kwi-10,000 ukuya kwi-15,000 yeentsana ezisandul’ ukuzalwa. Nangona kunzima ukufumana izibalo ezichanekileyo ngale nto eSri Lanka, le meko inokubonwa naphi na emhlabeni.

Zithini iimpawu ze-PKU? Musa ukoyika, yazi oku!

Kumazwe amaninzi, kuquka nezinye izibhedlele eSri Lanka, uhlolo lweentsana ezisandul’ ukuzalwa sele lwenziwa kwiintsana ezisandul’ ukuzalwa ukuze kubonwe ukuba zine-PKU na, nto leyo eyenza kube nokwenzeka ukuchonga imeko ngaphambi kokuba kubonakale iimpawu. Ke ngoko, ukuxhaphaka kweempawu okwangoku kuphantsi kakhulu.

Nangona kunjalo, ukuba le meko ayibonwa ngandlela thile okanye ukuba ayinyangwa, ezinye iimpawu zinokuvela. Nazi:

• Izifo zesikhumba ezifana ne -eczema .
• Utshintsho kumbala wesikhumba kunye/okanye weenwele ( ulusu kunye neenwele ziya zikhanya ngakumbi kunamanye amalungu osapho).
• Ubungakanani bentloko buncinci kunesiqhelo (i-microcephaly) .
• Ivumba elibi elivela emlonyeni, eluswini, okanye emchameni. Linuka ngathi yinto endala.

Iimpawu ezinzima kakhulu ezinokubakho ukuba azinyangwa zezi:

• Iingxaki zokuziphatha.
• Ukulibaziseka kokukhula - Oku kuthetha ukuba amanyathelo okukhula komntwana, njengokuncuma, ukuphakamisa intloko yakhe, nokuhamba, ayalibaziseka.
• Ukukhubazeka kwengqondo .
• Amaxesha amaninzi, ukuxhuzula okufana nokuxhuzula kuyenzeka.

Kubalulekile: Khumbula, uninzi lwezi mpawu luvela kuphela xa lunganyangwa. Kule mihla, uhlolo lweentsana ezisandul’ ukuzalwa lunokukubona oku kwangethuba, ngoko ke akukho nto inokubangela ixhala.

Yintoni unobangela wokwenene we-PKU?

Eyona nto ibangela i-PKU kukuguquka kwezakhi zofuzo zombini ze-PAH emzimbeni wethu. Le gene ye-PAH iyalela umzimba wethu ukuba wenze i-enzyme ebizwa ngokuba yi-phenylalanine hydroxylase . Le enzyme iguqula i-amino acid i-phenylalanine, esiyityayo, ibe ziiproteni ezinokusetyenziswa ngumzimba.

Ngoko ke, xa le gene ye-PAH ingasebenzi kakuhle, i-enzyme ayiveliswa, okanye ayisebenzi kakuhle. Emva koko, i-phenylalanine evela ekutyeni iqokelelana emzimbeni. Umzimba wethu, ingakumbi ingqondo, uvakalelwa kakhulu yi-phenylalanine egqithisileyo. Yiyo loo nto ingqondo inokonakala.

I-PKU idluliselwa njani ngee-genes?

Yintoni i-PKU?Imeko yemfuza ezuzwa kubazali ukuya ebantwaneni ngendlela ye-autosomal recessive pattern. Oku kunokuvakala ngathi ligama lesayensi, kodwa ngokulula yile:

Khawucinge nje, ijini ebangela i-PKU ibizwa ngokuba yi-"p". Ijini ephilileyo ibizwa ngokuba yi-"P".

Ukuze umntwana abe ne-PKU, kufuneka afumane i-"p" gene evela kumama nakutata (oko kukuthi, kufuneka ibe yi-"pp").

Kwiimeko ezininzi, abazali banokuba ngabathwali bale jini ye-PKU. Oko kuthetha ukuba, banokuba nejini njenge-"Pp". Abanazo iimpawu ze-PKU, kuba ijini "P" esempilweni iyasebenza. Kodwa, banokudlulisela loo jini "p" ebantwaneni babo.

Ngoko ke, ukuba bobabini abazali bathwala umntwana (Pp x Pp), xa benomntwana:

• Kukho amathuba angama-25% okuba umntwana abe ne-PKU (pp).
• Kukho amathuba angama-50% okuba umntwana abe nesi sifo (Pp) - akukho zimpawu.
• Kukho amathuba angama-25% okuba umntwana afumane zombini ii-genes ezisempilweni (PP) - akukho PKU, kwaye akukho mthwali.

Yiyo loo nto kuyinto ekufuneka ivele kubazali bobabini.

Uyazi njani ukuba une-PKU?

Amaxesha amaninzi, i-PKU ifunyaniswa ngovavanyo lovavanyo losana olusandul’ ukuzalwa, oluqhutywa phakathi kweeyure ezingama-24 ukuya kwezingama-72 emva kokuba umntwana ezelwe . Oku kuquka ukuhlaba isithende somntwana ngenaliti encinci nokuthatha amathontsi ambalwa egazi . Oku kujonga inqanaba le-phenylalanine egazini lomntwana.

• Ukuba amanqanaba e-phenylalanine egazini lomntwana afunyenwe ephezulu, oogqirha baya kwenza olunye uvavanyo (uvavanyo lwegazi okanye lomchamo) ukuqinisekisa imeko ye-PKU, kunye nokufumanisa ukuba loluphi uhlobo lwe-PKU.
• Ngenxa yokuba i-PKU yimeko yemfuza, uvavanyo lwemfuza lunokwenziwa ukuze kuchongwe ngqo utshintsho lwemfuza olubangela iimpawu.

Ukuba uvavanyo lokuhlolwa kweentsana ezisandul’ ukuzalwa alwenziwanga, i-PKU inokubonwa nangaliphi na ixesha, kodwa okukhona ifunyanwa kwangoko, kokukhona ingcono.

Ziziphi iindlela zonyango ezikhoyo ze-PKU?

Unyango lwe-PKU luthatha ubomi bonke . Kodwa ungakhathazeki, ukuba lulawulwa kakuhle, ungaphila ubomi obusempilweni. Unyango lungabandakanya:

1. Ukutya okukhethekileyo: Le yeyona nto ibalulekileyo. Kufuneka utye ukutya okune-phenylalanine encinci kodwa okutyebileyo kwezinye izondlo .

2. Iivithamini, iiminerali, kunye nezongezo zesondlo: Ezi ziyimfuneko ukuze ufumane izondlo ozifunayo, njengoko ukunciphisa ukutya kunokubangela ukuba ungafumani ezinye izondlo.

3. Amayeza: Abanye abantu banokunikwa amayeza afana ne -sapropterin dihydrochloride (Kuvan®) . Oku kunceda umzimba ukuba uqhekeze i-phenylalanine.

4. Isiyobisi iPegvaliase (Palynziq®):Abantu abasebenzisa la mayeza banokutya ngendlela eqhelekileyo ngaphandle kwemiqathango ekhethekileyo yokutya. Oku kuthatha indawo ye-enzyme eqhekeza i-phenylalanine engasebenzi kakuhle emzimbeni wabantu abane-PKU.

Ukuba wena okanye umntwana wakho une-PKU, kufuneka nisebenzisane nogqirha wakho kunye nengcali yokutya ukuze niphuhlise isicwangciso sonyango esingcono.

Zeziphi ukutya ezine-phenylalanine? Masiqaphele ezi zinto!

Abantu abane-PKU (ngaphandle kokuba bathathe iyeza elibizwa ngokuba yi-`Pegvaliase`) kufuneka banciphise ukutya okune-phenylalanine eninzi. Oku kufumaneka ekutyeni okuneproteni ephezulu. Umzekelo:

• Ubisi kunye neemveliso zobisi (itshizi, iyogathi)
• Amaqanda
• Amandongomane (afana namandongomane, ii-cashews)
• Intlanzi
• Inkukhu
• Inyama yenkomo
• Iimbotyi ezifana neembotyi kunye neelentile
• I-Aspartame, isinongo esenziwe ngokwenziwa (sinokufumaneka kwezinye iziselo nokutya okungenaswekile)

Ngaba kukho ukutya okukhethekileyo komntu one-PKU?

Ewe, ngokuqinisekileyo. Umntu one-PKU (ongayithathiyo iyeza elithi `Pegvaliase`) kufuneka alandele ukutya okuneproteni ephantsi . Ukutya okuneproteni ephezulu njengenyama, intlanzi, amaqanda, kunye neemveliso zobisi kufuneka kuncitshiswe kangangoko kunokwenzeka, okanye kuyekwe ngokupheleleyo.

Kodwa oku akulula njengoko kubonakala. Kuba iiproteni zibalulekile emzimbeni. Kungoko ke, kubaluleke kakhulu ukuthetha nogqirha okanye ingcali yokutya uze wenze ukutya okunesondlo okubonelela ngazo zonke ezinye izondlo ezifunekayo emzimbeni. Kukho iifomyula ezikhethekileyo zeentsana ezine-PKU, eziphantsi kwi-phenylalanine, kodwa zisenezinye izondlo ezifunekayo.

Khawucinge nje, unomntwana omncinci ekhaya one-PKU. Ufanele uqaphele kangakanani ngokutya okumondlayo? Kufuneka ujonge yonke iphakheji yokutya uze ufumane ukuba ingakanani i-phenylalanine ekuyo. Kukuzincama okukhulu, kodwa kufanelekile kwikamva lomntwana.

Ngaba i-PKU ingathintelwa?

Ngenxa yokuba i-PKU ibangelwa lufuzo, akukho ndlela yokuthintela le meko ukuba ingenzeki.

Nangona kunjalo, ukuba uceba ukukhulelwa, ungenza ingcebiso ngemfuza kunye nokuhlolwa kwe-carrier ukuze ufumane ukuba wena neqabane lakho ninayo na i-PKU gene. Oku kuya kukunceda uqonde umngcipheko wokuba nomntwana one-PKU.

Luhlobo luni lwekamva umntu one-PKU anokulilindela?

Le yingxaki abantu abaninzi abanayo. Nangona i-PKU iyinto ehlala ixesha elide, ukuba ilawulwa ngokufanelekileyo, uninzi lwabantu lunokuphila ubomi obusempilweni nobuqhelekileyo.

• Emva kokuxilongwa, kufuneka uvavanyo lwegazi rhoqo ukujonga amanqanaba e-phenylalanine egazini . Le yindlela onokubona ngayo ukuba ukutya kulandelwa ngokufanelekileyo na kwaye ukuba amayeza asebenza ngokufanelekileyo.
• Kwabo batya ukutya okunesondlo, ingcali yokutyaKunceda kakhulu ukusebenzisana nabo ngokusondeleyo. Bakuxelela ngokuthe ngqo ukuba zeziphi ukutya omawuzitye, omawuziphephe, kunye nendlela yokufumana izondlo ezifunwa ngumzimba wakho.
• Ukuba umfazi one-PKU ukhulelwa, ugqirha wakhe kunye nengcali yesondlo baya kusebenzisana ukwenza isicwangciso esikhethekileyo sokutya esiya kuqinisekisa ukuba umama ufumana isondlo asidingayo ngelixa enciphisa nayiphi na ingozi enokubakho kumntwana.

Ndingazikhusela njani mna/umntwana wam kwi-PKU?

Ukuxilongwa kwe-PKU yimeko ehlala ixesha elide, ngoko ke kubalulekile ukuhlala unxibelelana rhoqo nogqirha wakho kwaye ujonge amanqanaba e-phenylalanine egazini lakho.

• Ukuba utya ukutya okuncinci, thatha iivithamini kunye nezongezo ezifunekayo ukuze ubuyisele ukungabikho kweproteni.
• Landela olu hlobo lokudla ubomi bakho bonke. Kungenjalo, iimpawu zinokuphinda zibuye zibe yingozi kwimpilo yakho.
• Ukuba ucinga ngokuqala usapho, thetha nogqirha wakho malunga novavanyo lwemfuza , olunokukunceda uqonde umngcipheko wokuba nomntwana one-PKU.

Ufanele uye nini kugqirha?

• Ukuba wena okanye umntwana wakho ufumana iimpawu ezinxulumene ne-PKU (ezo sixoxe ngazo ngaphambili), bona ugqirha ngokukhawuleza ukuze ahlolwe ngokupheleleyo.
• Ngaphambi kokuba ukhulelwe, okanye kwangethuba ukhulelwe, ungabuza ugqirha wakho malunga nokuhlolwa kwe-carrier's , okunokukunceda wena neqabane lakho nifumanise ukuba nisemngciphekweni wokuba nomntwana one-PKU.
• Ukuba une-PKU, bona ugqirha wakho rhoqo ukuze ahlolwe igazi kwaye abekwe esweni.

Ndingayibuza yiphi imibuzo ugqirha wam?

Ukuba unemibuzo malunga ne-PKU okanye imeko ye-PKU yomntwana wakho, ungoyiki ukubuza. Nazi ezinye zemizekelo:

• "Ndingaqinisekisa njani ukuba umntwana wam ufumana isondlo esifanelekileyo ukuze ahlale esempilweni?"
• "Ngaba mna/umntwana wam kufuneka ndithathe naziphi na iivithamini ezongezelelweyo okanye izongezo zesondlo?"
• "Ingaba ukutya okuneproteni ephantsi kwanele ukunciphisa amanqanaba e-phenylalanine yomntwana wam/wam, okanye kufuneka ndithathe amayeza?"
• "Zeziphi izinto ekufuneka ndizilumkele xa ndilungiselela esi sidlo sikhethekileyo?"
• "Ukuba umntwana uya esikolweni, isikolo sifanele sixelelwe njani ngokutya nokusela kwakhe?"

Ekuqaleni, ukukhetha ukutya okungenayo i-phenylalanine kunokuba nzima kancinci, kodwa njengoko usebenza nogqirha wakho kunye nengcali yesondlo, uza kuqhelana nako.

Okokugqibela, ezinye izinto ezibalulekileyo ekufuneka uzikhumbule (Umyalezo Wokuya Ekhaya)

Nangona i-PKU iyinto ehlala ixesha elide, inokulawulwa ngempumelelo. Eyona nto ibalulekileyo kukuyichonga kwangethuba kwaye uyilawule ngokufanelekileyo.

• Ukuhlolwa kweentsana ezisandul’ ukuzalwa kubaluleke kakhulu. Kunokubona ezinye izifo ezifana ne-PKU kwangethuba.
• Wakuba nje ufumene ukuba une-PKU, qiniseka ukuba ufuna ingcebiso kagqirha kunye nesikhokelo sengcali yesondlo .
• Ukunamathela ngokungqongqo ekutyeni, kwaye ukuba kuyimfuneko, amayeza ubomi bonke kubalulekile ekuphuhliseni impilo yengqondo yakho okanye yomntwana wakho.
• Jonga amanqanaba akho e-phenylalanine ngokuhlolwa kwegazi rhoqo .
• Awuwedwa. Ukunxibelelana nabanye abantu abane-PKU kunye neentsapho zabo kunokuba ngumthombo omkhulu wamandla kunye nenkuthazo kuwe kumaqela enkxaso .
• Ukuba ungumzali womntwana one-PKU, fundisa umntwana wakho ukuba aphile nale meko ngomonde nothando .

Ndiyathemba ukuba olu lwazi lukuncede ukuba uqonde ngcono i-PKU (iPhenylketonuria). Khumbula, ukuqonda sesona sixhobo silungileyo sokulwa nayo nayiphi na ingxaki yempilo!

I - PKU, i-Phenylketonuria, i-phenylalanine, izifo zemfuza, iintsana ezisandul' ukuzalwa, ukutya, ukutya okuneproteni ephantsi, ukuhlolwa kweentsana ezisandul' ukuzalwa