Zvirwere zvisati zvichinyatsonzwisiswa
Imwe firimu ya1992 " Lorenzo's Oil " yakaunza chirwere chisingawanzi chinonzi adrenoleukodystrophy (ALD) kunyika. Iyo inoramba ichinetsa myelin disorder, zvinoreva kuti myelin, "kusungurudza" kwakapoteredza mitsipa, inoputsa pane nguva. Pasina myelin, mitsipa haigoni kuita zvakanaka, kana zvachose. Zvinosuruvarisa, muviri haugoni kukura kudzorera myelin, saka chirwere chinowedzera-chinowedzera kupfuura nguva.
Chii chaiva bhafirimu "Lorenzo's Oil" pamusoro?
Chii chinokonzera ALD, uye Ndiani Anochikudziridza?
ALD inotora nhaka yakawanda inokonzerwa nehutachiona hwehutano hwakabatanidzwa ne X chromosome . Nemhaka yemararamiro ekuberekwa kwemazwi , asi vakomana chete ndivo vane maitiro akaoma kwazvo eAA. Chirwere ichi chinobuda mumuviri hachikwanise kuputsa mafuta makuru emafuta, zvichida izvo muviri unozvigadzira kana kuti izvo zvinopinda mumuviri kuburikidza nezvokudya. Kutsvakurudza kwakaratidza kuti izvi zvinowanzoitika nokuda kweprotini inotakura iyo inokundikana kushanda zvakanaka uye kutakura malekemu emafuta kusvika kwaanozoputsika. Mafuta emakemikari anovaka uye akavhara masero, uye anokuvadza masero emagetsi muuropi uye musipinha . ALD inobata pamusoro pevamwe varume 20 000.
Imwe geni, inonzi ABCD1, yakaratidzwa sekubatanidzwa neAlD. Kuongorora zvirwere kunogona kuitwa kuti tione kana mukadzi ane chirwere chisina kukwana. Nenzira iyi, mukadzi angangodaro akagara nhaka yegene risingadziviriki achaziva kuti kana asina here (ndiye mutakuri) uye anogona kuupfuurira kuvana vake.
Ko Vakomana Vese vane ALD Vakafa Here?
Kune maitiro akawanda ayo ALD inogona kutora. Chirwere chinoparadza zvikuru, icho Lorenzo Odone chaive nacho, uhu hwehutano hwehuduku, hunoreva kuti mitsetse muuropi inoparadzwa. Inenge 35 kusvika ku40 muzana yezviitiko zvose zveAlD ndeye rudzi urwu, runowanzoonekwa pakati pemakore mana ne8 muvakomana.
Vakomana ava vanowanzove vakaremara zvachose mumwedzi mitanhatu kusvika kumakore maviri, uye vanofa nguva inotevera.
ALD inogonawo kuonekwa sa multiple multiple sclerosis , mune kuti kune kurasikirwa zvishoma nezvishoma mumuviri asi pasina uropi hwakanyanya hwekushaya hutano hwehutachiona. Iyi fomu yechipiri inonzi adrenomyeloneuropathy (AMN), inomiririra anenge 40 kusvika ku45 muzana yezviitiko zvose zveAIDS, uye inobata varume mumakore ekuma20 kana pakati.
Inenge 20 muzana yevakadzi vane hutachiona hweHDD hunoita zviratidzo zvehutano zviratidzo zvinofanana neAdrenomyeloneuropathy, asi izvi zvinotanga gare gare muupenyu (makore makumi matatu kana makumi matatu) uye zvinoguma nehosha yakaoma kupfuura yevarume vakaoma.
Nemhaka yekuti adrenoleukodystrophy inokuvadza drenal glands, chirwere chinogona kutanga seAdison's disease , an adrenal gland disorder. Izvi zvinomirira 10 muzana yezviitiko zvose zveAIDS, uye zvinokanganisa varume vari pakati pemakore maviri uye vakuru. Varume vechidiki vane fomu iyi kazhinji vanowedzerawo AMN nezera remakore. Vakomana vanorwara vane chirwere cheAdisonison vanowanzoedzwa kuti vaone kana ALD ndiyo inokonzera dambudziko.
Inozivikanwa sei?
Kuongororwa kweAlD kunobva pane zviratidzo izvo mwana kana munhu mukuru ane. MRI (magnetic resonance imaging) yeuropi ichava nemigumisiro yakaipa.
Nemhaka yokuti mafuta haana kuputsika zvakanaka, kuongororwa kwehutano hwemhando yehuwandu hwemafuta inonzi yakareba-chain chain- fatty acids (VLCFA) inoratidza zvisingaenzaniswi mu 99 muzana yevarume.
ALD Inogona Kurapa Here?
Zvinosuruvarisa, hapasati paine mushonga wakakwana wekubata ALD. Zvisinei, pane nzira dzakawanda dzinoshandiswa dzinoita seinochera kuparadzwa kwechirwere. Imwe nzira ndiyo kushandiswa kwe " Lorenzo's oil ," yakagadzirwa kubva muorivhi uye rapeseed mafuta, uye zvokudya zvakaderera zvakanyanya. Mafuta, kana atanga kutanga kwevakomana neAAD asi pasina zviratidzo, zvino zvinozivikanwa kuti ine zvimwe zvinobatsira mukudzivirira utano hwehutano hwomudumbu we adrenoleukodystrophy.
Vatsvakurudzi vachiri kuedza kunzwisisana hukama hwakaoma pakati pemafuta mumuviri, uye kuti mafuta aLornzo angashandurwa sei kuti ave anoshanda.
Kechipiri kurapwa kwechirwere che ALD ndechepa marrow transplant . Pfungwa iyi ndeyekutora masero ane chinokanganisa ALD geni nemasero ane anowanzo ALD gene uye achaputsa mafuta.
Kana iri adrenomyeloneuropathy (AMN), hapana kurapwa kwave kuchigadzirwa. Kana chirwere cheAdrenal chakafanana nechirwere cheAdisonison chiripo, kwenguva yakareba hormone replacement inopa mushonga.
Sei Lorenzo Achiita? Ari Kurarama Ari Kurarama Here?
Zvinosuruvarisa kuti Lorenzo akarasikirwa nehondo neAlD ndokufa musi waMay 30, 2008, rimwe zuva mushure mekuzvarwa kwake kwema30. Anopona nababa vake, Augusto, munun'una wake Francesco uye hanzvadzi Cristina. Amai vake, Michaela (inoratidzwa mumabhaisikopo naSusan Sarandon), vakafa musi waJune 10, 2000, wekenza yemapapu .
Sources:
Moser, Hugh, Ann Moser, Steven J Steinberg, & Gerald V Raymond. "X-Linked Adrenoleukodystrophy." GeneReviews. 27 July 2006. GeneTests. 6 Feb 2009
"Mazano Pamusoro peLornzo Mafuta." The Myelin Project. 6 Feb 2009