Zonse Za Phenylketonuria (PKU) kuchokera ku Cholowa Chochiza
Mwachidule
Phenylketonuria (fen-ul-keetone-YU-ree-ah, kapena PKU) ndi matenda omwe amachititsa kuti thupi lisathenso kuthetsa mapuloteni (amino acid) phenylalanine. Izi zimachitika chifukwa chosowa chamadzimadzi, phenylalanine hydroxylase, ndi chosowa. Chifukwa cha izi, phenylalanine imakula m'maselo a thupi ndipo imayambitsa dongosolo la mantha ndi kuwonongeka kwa ubongo.
Phenylketonuria ndi matenda ochiritsidwa omwe angawoneke mosavuta ndi kuyesa magazi mosavuta. Ku United States, ana onse omwe akubadwa kumene amafunika kuyesedwa kwa PKU monga gawo la kuyang'ana kwa kagwiritsidwe ntchito kachakudya ndi mabadwa kwa ana onse obadwa kumene . Ana onse obadwa kumene ku United Kingdom, Canada, Australia, New Zealand, Japan, mayiko a Kumadzulo ndi ambiri a Kum'mawa kwa Ulaya, ndi mayiko ena ambiri padziko lonse lapansi amayesedwa.
(Kuwunika kwa PKU mu makanda oyambirira ndi osiyana ndi ovuta pa zifukwa zingapo.)
Chaka chilichonse ana 10,000 mpaka 15,000 anabadwa ndi matendawa ku United States ndipo Phenylketonuria imapezeka mwa amuna ndi akazi a mafuko onse (ngakhale kuti anthu ambiri a kumpoto kwa Europe ndi Native America amakhala ndi cholowa chawo).
Zizindikiro
Mwana wakhanda wobadwa ndi phenylketonuria amayamba kukula kwa miyezi ingapo yoyambirira. Ngati simukutsatiridwa, zizindikiro zimayamba kukula ndi miyezi itatu kapena sikisi ndipo zingaphatikizepo izi:
- Kutha kuchedwa
- Kutaya maganizo
- Kugonjetsa
- Khungu louma kwambiri, chisanu , ndi mphukira
- Chosiyana "msuzi" kapena "musty" fungo la mkodzo, mpweya, ndi thukuta
- Kuwala, kuwala kapena tsitsi lofiira
- Kukhumudwa, kusadziletsa, kusasamala
Kudziwa
Phenylketonuria imapezeka ndi kuyesedwa kwa magazi, kawirikawiri monga gawo la kuyesedwa koyeseka kwa mwana wakhanda m'masiku ochepa oyambirira a moyo.
Ngati PKU ilipo, mlingo wa phenylalanine udzakhala wapamwamba kwambiri kuposa mwachibadwa m'magazi.
Chiyesocho ndi cholondola kwambiri ngati chitachitika mwanayo akakhala ndi maola oposa 24 koma osakwana masiku asanu ndi awiri. Ngati khanda limayesedwa osakwana maola 24, ndi bwino kuti mayesero azibwerezedwa pamene mwanayo ali ndi sabata limodzi. Monga tanenera pamwambapa, mwana wakhanda asanakwane anayenera kuyesedwa m'njira zosiyanasiyana chifukwa cha zifukwa zingapo kuphatikizapo kuchedwa kwa chakudya.
Chithandizo
Chifukwa phenylketonuria ndi vuto lotha kuphwanya phenylalanine, khanda limapatsidwa chakudya chapadera chomwe chimakhala chotsika kwambiri mu phenylalanine.
Poyamba, mankhwala ochepa otchedwa phenylalanine (Lofenalac) amagwiritsidwa ntchito.
Pamene mwana akukula, zakudya zochepa zotchedwa phenylalanine zimaphatikizidwira kudya, koma palibe zakudya zamapuloteni monga mkaka, mazira, nyama, kapena nsomba zomwe zimaloledwa. Aspartame yokoma yokoma (NutraSweet, Equal) ili ndi phenylalanine, kotero kuti zakudya zakumwa ndi zakudya zomwe zili ndi aspartame zimapezedwanso. Mwinamwake mwawona malo pa zakumwa zofewa, monga zakudya za Coke, zomwe zimasonyeza kuti mankhwalawa sayenera kugwiritsidwa ntchito ndi anthu omwe ali ndi PKU.
Anthu ayenera kukhala pa zakudya zopanda mphamvu za phenylalanine panthaŵi ya ubwana ndi unyamata.
Anthu ena amatha kuchepetsa zakudya zawo pamene akukula.
Kuyezetsa magazi nthawi zonse kumafunika kuti muyese kuchuluka kwa phenylalanine, ndipo chakudya chiyenera kusintha ngati mazinga ali apamwamba kwambiri. Kuwonjezera pa zakudya zopanda malire, anthu ena amatha kumwa mankhwala a Kuvan (sapropterin) kuti athetse kuchepa kwa phenylalanine m'magazi.
Kuwunika
Monga taonera, mayesero a magazi amagwiritsidwa ntchito poyang'anira anthu omwe ali ndi PKU. Pa nthawiyi malangizo amavomereza kuti cholinga cha magazi cha phenylalanine chiyenera kukhala pakati pa 120 ndi 360M kwa anthu omwe ali ndi PKU wa mibadwo yonse. Nthawi zina malire opitirira 600M amaloledwa kwa akuluakulu. Amayi oyembekezera amafunika kuti adye chakudya chawo mwakuya, ndipo amalandila 240M kupititsa patsogolo.
Maphunziro akuyang'ana kutsata (chiwerengero cha anthu omwe amatsata zakudya zawo ndikutsatira ndondomekoyi) ndi 88 peresenti kwa ana pakati pa kubadwa ndi zaka zakubadwa, koma 33 peresenti mwa iwo omwe ali ndi zaka 30 kapena kupitirira.
Udindo wa Genetics
PKU ndi matenda omwe amachokera kwa makolo kupita kwa ana. Kuti mukhale ndi PKU, mwana ayenera kutenga gene gene mutation kwa PKU kuchokera kwa kholo lililonse . Ngati mwanayo adzalandira jini kuchokera kwa kholo limodzi, ndiye kuti nayenso mwanayo amanyamula chibadwa cha PKU koma alibe PKU.
Omwe amalowetsa chibadwa chimodzi chokha sakhala ndi PKU, koma amatha kupatsira ana awo (kukhala chonyamulira.) Ngati makolo awiri ali ndi jini, ali ndi mwayi wokwana 25 peresenti yokhala ndi mwana ndi PKU, 25 peresenti kuti mwana wawo asapange PKU kapena kukhala chonyamulira, ndipo 50 peresenti kuti mwana wawo nayenso aziwatsogolera matendawa.
PKU ikapezeka mwana, mwanayo ayenera kutsatira ndondomeko ya chakudya cha PKU m'moyo wawo wonse.
PKU mu Mimba
Atsikana omwe ali ndi phenylketonuria omwe sadya zakudya zoperewera ndi phenylalnine adzakhala ndi phylalanine. Izi zingayambitse matenda aakulu omwe amadziwika kuti PKU syndrome kwa mwanayo, kuphatikizapo kutaya mtima, kuchepa, kuchepa kwa mtima, kapena zofooka zina . Komabe, ngati mtsikanayo ayambanso kudya zakudya zochepa zomwe zimakhala zochepa pakatha miyezi itatu asanakhale ndi mimba, ndipo akupitirizabe kudya nthawi zonse pamene ali ndi pakati, PKU syndrome ingalephereke. Mwa kuyankhula kwina, kutenga mimba yabwino ndi kotheka kwa amayi omwe ali ndi PKU malinga ngati akukonzekeretsa ndi kuyang'anitsitsa chakudya chawo panthawi yomwe ali ndi mimba.
Kafukufuku
Ochita kafukufuku akuyang'ana njira zothetsera phenylketonuria, monga kusinthira jini lopanda vuto lomwe limayambitsa matendawa kapena kupanga mapuloteni opangidwa ndi majini kuti alowe m'malo mwake. Asayansi akuphunziranso mankhwala monga tetrahydrobiopterin (BH4) ndi ziwalo zazikulu za amino acid monga njira zothandizira PKU mwa kuchepetsa mlingo wa phenylalanine m'magazi.
Kulimbana
Kulimbana ndi PKU ndi kovuta ndipo kumafuna kudzipereka kwakukulu chifukwa ndiyeso la moyo wonse. Thandizo lingakhale lothandiza ndipo palinso magulu ambiri othandizira komanso magulu othandizira omwe alipo omwe anthu angayanjane ndi ena omwe akulimbana ndi PKU onse kuti athandizidwe komanso kuti azikhala ndi nthawi yowonjezera.
Palinso mabungwe angapo, omwe amagwira ntchito kuthandiza anthu omwe ali ndi PKU ndikupeza ndalama zopangira chithandizo chabwino. Zina mwa izi ndi National Society of Phenylketonuria, National PKU Alliance (gawo la bungwe la NORD, National Organization for Rare Disorders, ndi PKU Foundation.) Kuphatikiza pa kafukufuku wopereka ndalama, mabungwewa amapereka thandizo lomwe lingakhale lothandiza popereka thandizo kugula njira yapadera yomwe ikufunikira kwa ana omwe ali ndi PKU, kupereka zowathandiza kuthandiza anthu kuphunzira ndi kuyenda njira yawo kumvetsetsa PKU ndi zomwe zimatanthauza m'miyoyo yawo.
Zotsatira:
Jurecki, E., Cederbaum, S., Kopesky, J. et al. Kugonjera kuchipatala Chisankho pakati pa odwala Phenylketonuria ku United States. Mapuloteni Achilengedwe ndi Metabolism . 2017 Jan 6. (Epub patsogolo pa kusindikiza).
Van Spronsen, F., van Wegberg, A., Ahring, K. et al. Malangizo apamwamba a ku Ulaya odziwa momwe angathandizire komanso otsogolera odwala Phenylketonuria. Lancet Shuga ndi Endocrinology . 2017 Jan 9. (Epub patsogolo pa kusindikiza).
Vockley, J., Andersson, J., Antshel, K. et al. Kulephera kwa Phenylalanine Hydroxylase: Kufufuza ndi Malangizo Otsogolera. Genetics mu Medicine . 2014. 16 (2): 188-200.