Konke malunga nePenylketonuria (PKU) kwifa eliya kwiNyango
Sibanzi
I-Phenylketonuria (i-fen-ul-keetone-YU-ree-ah, okanye i-PKU) yintlupheko yesifo esiyifumene apho umzimba ongenakukuphelisa ngokupheleleyo iprotheni (amino acid) phylalalanine. Oku kwenzeka ngenxa ye-enzyme efunekayo, i-phenylalanine hydroxylase, ayinalo. Ngenxa yoko, i-phylalalanine yakha kwiiseli zomzimba kwaye ibangela inkqubo yesantya kunye nomonakalo wengqondo.
I-Phenylketonuria isifo esinyango esingafumaneka lula ngokuhlolwa kwegazi. EUnited States, zonke iintsana ezisandul 'ukuzalwa ziyafuneka ukuba zihlolwe i-PKU njengenxalenye yesilingo sokuhlola ukuhlaziywa komzimba kunye nesezizalweni ezenziwe kuzo zonke iintsana . Zonke iintsana ezisanda kuzalwa kwiUnited Kingdom, eCanada, e-Australia, eNew Zealand, eJapan, iintlanga zaseNtshona kunye nezona zininzi zaseMpuma Yurophu, kunye namanye amazwe amaninzi kwihlabathi, ziyahlolwa kwakhona.
(Ukujonga i-PKU kwiintsana ezingasemva kwexesha kuyahluka kwaye kunzima ngezizathu ezininzi.)
Unyaka ngamnye ukuya ku-10 000 ukuya ku-15 000 iintsana ezalwa nesi sifo e-United States kunye nePenylketonuria zenzeka kubini abesilisa nabesifazane bazo zonke iintlanga (nangona kunjalo ngokuqhelekileyo kubantu baseMntla Yurophu naseMveli yaseMelika.)
Iimpawu
Intsana ezalwe nge phenylketonuria iya kukhula ngokuqhelekileyo kwiinyanga ezimbalwa zokuqala. Ukuba ishiywe ingaphendulwanga, iimpawu ziqala ukukhula ngeenyanga ezintathu ukuya ezintandathu ubudala kwaye zingaquka:
- Ukuphuculwa kwexesha
- Ukulahlwa kwengqondo
- Ukuxhamla
- Ikhumba elomileyo kakhulu, i- eczema , kunye ne-rashes
- Ukwahlukana "kumnandi" okanye "umuthi" wokuvumba umchamo, ukuphefumula kunye nokujuluka
- Ubumba obukhanyayo, ubunwele obukhanyayo okanye obomvu
- Ukutshatyalaliswa, ukungazinzi, ukunyanzelisa
Ukuxilongwa
I-Phenylketonuria ifunyaniswa ngophando lwegazi, ngokuqhelekileyo njengenxalenye yenkqubo yokuhlola i-infantry in the first few days of life.
Ukuba iPKU ikhona, izinga le-phenylalanine liya kuba liphezulu kuneliqhelekileyo egazini.
Uvavanyo luchanekile kakhulu xa lwenziwa xa umntwana useneminyaka engaphezulu kwama-24 ubudala kodwa engaphantsi kweentsuku ezisixhenxe. Ukuba usana luvavanywa ngaphantsi kweeyure ezingama-24 ubudala, kucetyiswa ukuba uvavanyo luphindaphindwa xa umntwana usuveki elidala. Njengoko kuphawuliwe ngasentla, iintsana ezingaphambi kwexesha kufuneka zihlolwe ngendlela eyahlukileyo ngenxa yezizathu ezininzi kuquka ukulibaziseka kokutya.
Unyango
Ngenxa yokuba i-phenylketonuria ingxaki yokuphula phylalalanine, umntwana usinikwa ukutya okhethekileyo okuphantsi kakhulu kwi-phenylalanine.
Ekuqaleni, ifomula ye-phenylalanine ekhethekileyo (Lofenalac) isetyenziswa.
Njengoko umntwana ekhula, ukutya okuphantsi kwe-phenylalanine kwongezwa ekudleni, kodwa akukho ukutya okuninzi lweprotheni ezifana nobisi, amaqanda, inyama, okanye intlanzi avunyelwe. I-aspartame yokuthakazelisa yokufakelwa (i-NutraSweet, Equal) iqukethe i-phenylalanine, ngoko ukusela izidlo kunye nokutya okuqukethe i-aspartame nako kugwenywa. Mhlawumbi uye waqaphela indawo kwindawo yeziphuzo ezinxilisayo, ezifana nokutya kwe Coke, ebonisa ukuba umveliso akufanele usebenziswe ngabantu abanePKU.
Abantu kufuneka bahlale kwisidlo-phenylalanine-ukutya okuncinci ngexesha lobuncinci kunye nobutsha.
Abanye abantu banako ukunciphisa izithintelo zokutya njengoko bekhula.
Ukuhlolwa kwegazi rhoqo kuyadingeka ukulinganisa amanqanaba e-phenylalanine, kunye nokutya kunokudinga ukulungiswa ukuba amanqanaba aphezulu kakhulu. Ukongeza kokutya okunqandekileyo, abanye abantu bangathabatha inkunkuma ye-Kuvan (sapropterin) ukunceda amanqanaba e-phenylalanine egazini.
Ukubeka iliso
Njengoko kuphawuliwe, iimvavanyo zegazi zisetyenziselwa ukuqapha abantu abanePKU. Ngexesha langoku izikhokelo zincoma ukuba ixilongo yegazi ye-phenylalanine ifanele ibe phakathi kwe-120 ne-360 uM kubantu abano-PKU babo bonke ubudala. Ngamanye amaxesha umda ophakamileyo njengo-600 uM uvumelekile kubantu abadala. Noko ke, abafazi abakhulelweyo bayafuna ukulandela ukutya kwabo ngokugqithiseleyo, kwaye izinga eliphakamileyo lama-240M liyacetyiswa.
Izifundo zijonge ukuthotyelwa (inani labantu abalandela ukutya kwabo kunye nokuhlangabezana nale mi khokelo) ngama-88 ekhulwini kubantwana phakathi kokuzalwa kunye neminyaka emine, kodwa kuphela i-33 ekhulwini kulabo abaneminyaka engama-30 nangaphezulu.
Indima yeGenetics
I-PKU yintlupheko yesifo esisasazekayo evela kubazali kubantwana. Ukuze ube ne-PKU, umntwana kufuneka azuze iinguqu ezithile zoguquko kwi-PKU kumzali ngamnye . Ukuba umntwana uzuza ilifa kumzali omnye, ngoko umntwana usenza iinguqu zenguqu yePKU kodwa engenayo i-PKU.
Abo bazuza ilifa elilodwa lokuguqula izakhi ze-gene, abayi kuba nePKU, kodwa bangadlulisela imeko kubo kubantwana babo (kuba ngumphathiswa.) Ukuba ngabazali ababini baphatha imfuza, banamava angama-25 okuba ne-PKU, 25 Ipesenti ithuba lokuba umntwana wabo akayi kuvelisa iPKU okanye abe ngumphathiswa, kwaye ama-50 ekhulwini amathuba lokuba umntwana wabo uya kuba ngumthwali wesifo.
Xa i-PKU ifunyanwe kwintsana, ngoko umntwana kufuneka alandele isicwangciso sokutya se-PKU kuwo wonke ubomi bawo.
PKU ekukhulelweni
Abasetyhini abaselula kunye ne-phenylketonuria abangadli isidlo se-phenylalnine-banokuthi banomgangatho ophezulu we-phenylalanine xa bekhulelwe. Oku kungakhokelela kwiingxaki ezinzulu zonyango ezibizwa ngokuba yi-PKU syndrome yomntwana, kubandakanya ukulibala kwengqondo, ukuzala okuphantsi, ukukhubazeka kwentliziyo, okanye ezinye iziphoso zokuzalwa . Nangona kunjalo, ukuba intombazana leyo iqala ukutya okungaphantsi kwe-phenylalanine ubuncinane kwiinyanga ezintathu ngaphambi kokukhulelwa, kwaye iyaqhubeka nokutya ngexesha lokukhulelwa kwayo, i-PKU syndrome inokuthintelwa. Ngamanye amazwi, ukukhulelwa okunempilo kunokwenzeka kubasetyhini abane-PKU ngokukhawuleza ukuba baceba phambili kwaye bajonge ngokunyameko ukutya kwabo bonke abakhulelweyo.
Uphando
Abaphandi bajonga iindlela zokulungisa i-phenylketonuria, njengokuthatha indawo yesifo esichaphazelekayo esinoxanduva lwe-disorder okanye ukudala i-enzyme eyenziwe ngezofuzo ukuze ithathe indawo yokusilela. Iingcali zenzululwazi zifunda i-chemical compounds ezifana ne-tetrahydrobiopterin (BH4) kunye ne-amino acids engathathi hlangothi njengeendlela zokuphatha i-PKU ngokunciphisa izinga le-phenylalanine egazini.
Ukujamelana
Ukujamelana nePKU kunzima kwaye kufuna ukuzibophezela okukhulu kuba ngumzamo wokuphila ngonaphakade. Inkxaso ingaba luncedo kwaye kukho amaqela amaninzi nenkxaso kunye noluntu olutholakalayo apho abantu banokusebenzisana nabanye abajongene ne-PKU bobabini ngenkxaso yemoya kunye nokuhlala bafikelele kumhla wophando olutsha.
Kukho nemibutho emininzi, efanelekileyo, eyenza ukuxhasa abantu abane-PKU kunye nokuxhasa ngemali uphando oluthile. Ezinye zezi ziquka i-National Society ye-Phenylketonuria, i-National PKU Alliance (inxalenye yentlangano ye-NORD, iNational Organisation of Disorders, kunye ne-PKU Foundation. Ngaphandle kophando lwemali, le mibutho inika uncedo olunokuthi lube luncedo ekuncedeni ukuthenga ifom ekhethekileyo efunekayo kwiintsana ezine-PKU, ukubonelela ngolwazi ukunceda abantu bafunde malunga nokuhamba indlela yabo ekuqondeni i-PKU kunye noko kuthetha ntoni ebomini babo.
Imithombo:
Jurecki, E., Cederbaum, S., Kopesky, J. et al. Ukuhambelana neKlinikhi Iziphakamiso Phakathi kweziguli ezinePenylketonuria eUnited States. I-Molecular Genetics kunye neMetabolism . 2017 uJan 6. (Epub ngaphambi kokuprinta).
Van Spronsen, F., van Wegberg, A., Ahring, K. et al. Izikhokelo eziphambili zaseYurophu zokuHlola nokuPhathwa kweziGulane ngePenylketonuria. I-Lancet Isifo Sikashukela ne-Endocrinology . 2017 Jan 9. (Epub ngaphambi kokuprinta).
UVockley, J., Andersson, J., Antshel, K. et al. I-Phenylalanine Hydroxylase Ukusilela: I-Diagnosis ne-Guideline Guideline. Genetics kwiMithi . 2014. 16 (2): 188-200.