Zvose NezvePhenylketonuria (PKU) kubva kuNhaka Yekutapwa
Overview
Phenylketonuria (fen-ul-keetone-YU-ree-ah, kana PKU) inokonzerwa nehutachiona hwemagetsi iyo muviri haugoni kuputsa zvachose protein (amino acid) phenylalanine. Izvi zvinoitika nokuti inyanzvi yakakosha, phenylalanine hydroxylase, haina kukwana. Nemhaka yeizvi, phenylalanine inovaka mumasero emumuviri uye inokonzera manzwiro ehurumende uye kuora kwehupi.
Phenylketonuria chirwere chinoporesa chinogona kuwanika nyore nyore nekuongorora ropa. MuUnited States, vana vose vacheche vanofanirwa kuongororwa kwePKU sechikamu chekugadzirisa zviratidzo uye zvekuberekwa kwakaitwa kune vose vanozvarwa . Vose vanozvarwa patsva muUnited Kingdom, Canada, Australia, New Zealand, Japan, nyika dzeWestern uye dzakawanda dzeEastern Europe, nedzimwe nyika dzakawanda munyika yose, dzinoedzwawo.
(Kuongorora kwePKU mucheche asati asvika kwakasiyana uye kwakaoma kune zvikonzero zvakawanda.)
Gore negore zviuru gumi kusvika ku15 000 vana vanoberekwa vane chirwere muUnited States uye Phenylketonuria inowanikwa kune varume nemadzimai vemarudzi ose (kunyange zvazvo yakazara kune vanhu veNorthern Europe uye Native American nhaka.)
Zviratidzo
Icheche inoberekwa ne phenylketonuria inokura kazhinji mumwedzi mishoma yekutanga. Kana isina kusiya, zviratidzo zvinotanga kukura kwemwedzi mitatu kusvika kumatanhatu uye dzinogona kusanganisira:
- Kukurumidza kusimbiswa
- Kuora mwoyo kwepfungwa
- Kugumburwa
- Ganda rakaoma kwazvo, eczema , uye rashes
- Kusiyanisa "mousy" kana kuti "musty" kunhuhwirira kwemuguta, kufema, uye jira
- Chiedza chakachena, tsvuku kana bvudzi
- Kunyangadza, kusazvidzora, kusagadzikana
Kuziva
Phenylketonuria inoratidzwa nechirwere cheropa, kazhinji sechikamu chemuitiro wekuongorora maitiro anopiwa kumucheche mukati memazuva mashomanana eupenyu.
Kana PKU iripo, uwandu hwe phenylalanine huchave hwepamusoro pane hunowanikwa muropa.
Muedzo wacho wakanyatsokwana kana wakaitwa apo mucheche anopfuura maawa makumi maviri nemaviri asi asi pasi pemasikati manomwe. Kana mwana mucheche akaedzwa maawa masere masere, zvinokurudzirwa kuti muedzo udzoke kana mwana ari vhiki imwe chete. Sezvakataurwa pamusoro apa, vana vasati vasvika vanofanira kuongororwa nenzira yakasiyana nekuda kwezvikonzero zvakasiyana siyana kusanganisira kunonoka mune zvokudya.
Kurapa
Nokuti phenylketonuria idambudziko rekuputsa phenylalanine, mwana anochera anopiwa zvokudya zvakanakisisa izvo zvakanyanya kwazvo mu phenylalanine.
Pakutanga, imwe yakaderera-phenylalanine mucheche wevana (Lofenalac) inoshandiswa.
Sezvo mwana achikura, pasi-phenylalanine zvokudya zvinowanikwa pakudya, asi hapana zvakakwirira-mapuroteni zvakadai semukaka, mazai, nyama, kana hove dzinobvumirwa. Izvo zvinotapira zvinotapira aspartame (NutraSweet, Equal) ine phylalalanine, saka kudya zvinwiwa uye zvokudya zvine aspartame zvinodziviswa zvakare. Iwe wakangodaro wakaona nzvimbo pane zvinonwiwa, zvakadai sekudya kweCoke, iyo inoratidza kuti chigadzirwa hachifaniri kushandiswa nevanhu vane PKU.
Vanhu vanofanira kuramba vari pane phenylalanine-inorambidzwa kudya panguva yehuduku nekuyaruka.
Vamwe vanhu vanogona kuderedza mitemo yavo yekudya sezvo vachikura.
Nguva dzose kuongororwa ropa kunodiwa kuti uone mazinga e phenylalanine, uye kudya kunogona kudikanwa kuchinjwa kana mazinga ari akakwirira. Kunze kwekudya kusingabvumirwi, vamwe vanhu vanogona kutora chirwere ichi Kuvan (sapropterin) kuti chibatsire kuderedza nhengo dze phenylalanine muropa.
Kuongorora
Sezvakataurwa, kuongororwa kweropa kunoshandiswa kutarisa vanhu vane PKU. Panguva ino maitungamiri anotsigira kuti chinangwa chekuwedzerwa ropa che phenylalanine chinofanira kunge chiri pakati pe 120 ne 360 M kwevanhu vane PKU yemakore ose. Dzimwe nguva muganhu wakakura kusvika 600 M unobvumirwa kune vakwegura. Vakadzi vane pamuviri, zvisinei, vanofanirwa kutevera kudya kwavo zvakanyanya, uye nzvimbo yakakwirira ye 240 M inokurudzirwa.
Zvidzidzo zviri kutarisa kuterera (nhamba yevanhu vanotevera kudya kwavo uye vanosangana nemirayiridzo iyi) pane 88 muzana yevana pakati pekuberekwa nemakore mana, asi 33 chete muzana kune avo vane makore makumi matatu nemakumi matatu nepamusoro.
Basa reGenetics
PKU chirwere chinoshandiswa kubva kune vabereki kusvika kune vana. Kuti uve nePKU, mwana anofanira kutora nhaka yega gene gene mutation yePKU kubva kumubereki mumwe nomumwe . Kana mwana akagara nhaka yegene kubva kumubereki mumwe chete, ipapo mwana wacho anotakurawo mutenuko mutende wePKU asi haasi chaizvo PKU.
Vaya vanogara nhaka imwe chete yemagenhe mutation havaiti PKU, asi vanogona kupfuudza mamiriro ekuenda kune vana vavo (itai kutakura.) Kana vabereki vaviri vakatakura geni, vane 25 muzana mukana wekuva nemwana ane PKU, 25 mukana wekuti mwana wavo haazokudziri PKU kana kuti ave mutakuri, uye 50 muzana mukana wekuti mwana wavo achavawo mutakuri wechirwere.
Pane imwe PKU inowanikwa mune mwana, ipapo mwana uyo anofanira kutevera chirongwa chePKU chokudya muupenyu hwavo hwose.
PKU mukudzivirira
Vasikana vechidiki vane phenylketonuria vasingadyi zvokudya zve phenylalnine-zvinorema vachave nepamusoro ye phenylalanine pavanova nepamuviri. Izvi zvinogona kutungamirira kune zvinetso zvakakomba zvezvechirwere zvinozivikanwa sePKU syndrome yemwana, kusanganisira kutadza kwepfungwa, kuderedza kuberekwa, kuora mwoyo kwepfungwa, kana zvimwe zvikanganiso zvokuberekwa . Zvisinei, kana musikana wacho achitanga kudya zvakaderera-phenylalanine kudya mwedzi mitatu isati yatanga pamuviri, uye anoenderera mberi paanodya panguva yose apo aine pamuviri, PKU syndrome inogona kudziviswa. Mune mamwe mazwi, kubata pamuviri kwakanaka kunokwanisika kune vakadzi vane PKU chero bedzi vachironga mberi uye vachinyatsocherechedza kudya kwavo mukati mese pamuviri.
Kutsvakurudza
Vatsvakurudzi vari kutarisa nzira dzekugadzirisa phenylketonuria, zvakadai sokutsvaga chinokonzera chinokonzerwa nehutachiona kana kuti kugadzira enzyme inogadziriswa-engineered kuti inotsiva iyo yakashaya. Masayendisiti vari kuongororawo makemikari akaita se tetrahydrobiopterin (BH4) uye maitiro makuru ekutora amino acids senzira dzokurapa PKU nekuderedza muzinga we phenylalanine muropa.
Kutsungirira
Kurwisana nePKU kwakaoma uye kunoda kuzvipira kukuru sezvo iri kurarama kwenguva yakareba. Kutsigirwa kunogona kubatsira uye kune maboka akawanda ekutsigira uye masangano anotsigira anowanika apo vanhu vanogona kuyanana nevamwe vanobata naPKU vose kuti vatsigire mupfungwa uye kuti varambe vachiri kuongorora pane zvitsvakurudzo zvitsva.
Iko kune masangano akawanda, zvakare, ayo anoshandiswa kutsigira vanhu vane PKU uye kubhadhara mari kuongorori huri nani. Zvimwe zvacho zvinosanganisira National National for Phenylketonuria, National PKU Alliance (chikamu chesangano reNORD, National Organ for Rare Disorders, uye PKU Foundation) Mukuwedzera pakutsvakurudza mari, masangano aya anopa rubatsiro runogona kubva pakubatsira kutengwa kwemhando yakakosha inodiwa kumucheche ane PKU, kupa ruzivo kuti rubatsire vanhu kudzidza nezvekufamba nenzira yavo kunzwisiswa kwePKU uye zvinorevei muupenyu hwavo.
Sources:
Jurecki, E., Cederbaum, S., Kopesky, J. et al. Kuteerera kuKiriniki Zvirongwa pakati pevarwere vane Phenylketonuria muUnited States. Molecular Genetics uye Metabolism . 2017 Jan 6. (Epub mberi kwechinyorwa).
Van Spronsen, F., van Wegberg, A., Ahring, K. uye al. Nhungamiro yeEurope Inotungamirira Kuziva uye Kutarirwa Kwevarwere nePhenylketonuria. Lancet Diabetes uye Endocrinology . 2017 Jan 9. (Epub mberi kwekudhinda).
Vockley, J., Andersson, J., Antshel, K. et al. Phenylalanine Hydroxylase Kushaya Njodzi: Kuziva uye Kutungamirirwa Nhungamiro. Genetics in Medicine . 2014. 16 (2): 188-200.