Izifo zisengayiqondi ngokupheleleyo
I-movie ye-1992 " Ioli ye-Lorenzo " yazisa ingxaki engaqhelekanga ebizwa ngokuba yi-adrenoleukodystrophy (ALD) kwihlabathi. Ingxaki eqhubekayo yokuguqulwa kweel myelin, oku kuthetha ukuba i-myelin, "ukugxininisa" malunga neentliziyo, idiliza ixesha. Ngaphandle kwe-myelin, iintsholongwane azikwazi ukusebenza ngokuqhelekileyo, okanye nonke. Ngelishwa, umzimba awukwazi ukutshintsha i-myelin, ngoko-ke ukuphazamiseka kukuqhubela phambili-kuya kuba nzima nakwixesha.
Yayiyintoni na i-movie "i-Oil's Lorenzo" malunga?
Yintoni ebangela i-ALD, kwaye ngubani oyikhulayo?
I-ALD yintlupheko yesifo esiyifumeneyo esayifumene ne- X ye-chromosome . Ngenxa yendlela yokusebenza kwefa lokuzalwa , abafana kuphela abanesimo esibi kakhulu se-ALD. Ingxaki iphuma emzimbeni ongenakukwazi ukuphula amanqamzana amakhulu enamafutha, nokuba umzimba uyazenza ngokwawo okanye owangena umzimba ngokutya. Uphando lubonisile ukuba oku kubangelwa ngenxa yeprotheni ephathekayo ehluleka ukusebenza ngokuchanekileyo kwaye ithwale iamolekyuli enamafutha apho iya kuphulwa khona. Ama-molecule atyholayo akhupha aze agqoke iiseli, kwaye awonakalise amangqamuzana angamazinyo ebuchosheni kunye nentambo yomthambo . I-ALD ichaphazela ngomntu omnye kuma-20,000 amadoda.
I-gene gene, ebizwa ngokuthi i-ABCD1, ichongiwe njenge-ALD. Ukuvavanya i-Genetic kunokwenziwa ukuze kubone ukuba ngaba umfazi unesifo sofuzo. Ngaloo ndlela, umfazi onokufumana ifa lomntu ongaqhelekanga uyazi ukuba ngaba unayo (okanye umphathi) kwaye unokuyidlulisela kubantwana bakhe.
Ngaba Bonke Abafana abane-ALD Bafa?
Kukho iindidi ezinokuthi i-ALD ithathe. Uhlobo olubi kakhulu, luluphi uLe Lorenzo Odone , luhlobo lwengqondo yobuntwana, oku kuthetha ukuba iintsholongwane ezingqondweni zonakaliswa. Amaphesenti angama-35 ukuya kuma-40 kuwo onke amacala e-ALD yilo hlobo, oludla ngokubonakala phakathi kweminyaka emi-4 ukuya kwe-8 kumakhwenkwe.
Aba bafana bavame ukukhubazeka ngokupheleleyo kwiinyanga ezintandathu ukuya kwiminyaka emi-2, bafe emva kwexesha.
I-ALD ingabonakala ngathi i- multiple sclerosis , ngokuba kukho ukulahleka ngokukodwa komsebenzi emzimbeni kodwa kungabikho umonakalo obunzima wengqondo yolu hlobo lwe-cerebral. Ifom ye sibini ibizwa ngokuthi i-adrenomyeloneuropathy (AMN), ibonisa malunga ne-40 ukuya kwe-45 ekhulwini kwiimeko ze-ALD, kwaye ichaphazela amadoda kuma-20s okanye kwiminyaka ephakathi.
Phantse iipesenti ezingama-20 zamabhinqa aphethe i-ALD yesifo esingenasiphelo se-ALD ivelise iimpawu zeentlanzi ze-nerve ezifana ne-adrenomyeloneuropathy, kodwa oku kuqala emva koko ebomini (iminyaka engama-35 okanye kamva) kwaye kubangela isifo esibi kakhulu kunabesilisa abathintekayo.
Ngenxa yokuba i-adrenoleukodystrophy inonakalisa i-adrenal glands, ingxaki ingaqala njengesifo se- Addison , i-adrenal gland disorder. Oku kuchaza malunga neepesenti ezili-10 zazo zonke iimeko ze-ALD, kwaye zichaphazela amadoda phakathi kweminyaka emi-2 ubudala kunye nabantu abadala. Amadoda amancinane anale fom ngokuqhelekileyo akhula kwakhona i-AMN ngamaxesha aphakathi. Abafana abaxilongwa ngesifo se-Addison bavame ukuvavanywa ukuze babone ukuba i-ALD ingundoqo kwingxaki.
Uxilongwa njani?
Ukuxilongwa kwe-ALD kusekelwe kwiimpawu zomntwana okanye umntu omdala. I- MRI (imagination magontic resonance imaging) yengqondo iya kuba neziphumo ezingavamile.
Ngenxa yokuba amafutha awaphuli kakuhle, ukuvavanya ukuxilongwa kwegazi lohlobo lweoli olubizwa ngokuba yi-long-chain chain -acids (i-VLCFA) ibonisa amanqanaba angavamile kuma-99 ekhulwini yabesilisa.
Ngaba i-ALD iya kuPhiliswa?
Ngelishwa, akukabikho unyango olupheleleyo lwe-ALD ye-cerebral. Nangona kunjalo, kukho iindlela ezininzi ezijongwayo ezibonakala zinciphisa ukutshatyalaliswa kwesi sifo. Enye indlela yokusetyenziswa kweoli ye-Lorenzo , eyenziwa ngamafutha omnquma ne-rapeseed, kunye ne-fat fat fat. Ioli, xa iqala ukuqala kwamakhwenkwe kunye ne-ALD kodwa kungekho zibonakaliso, ngoku iyaziwa ukuba inenzuzo ethile ekukhuseleni uhlobo lwebhere yolutsha lwe-adrenoleukodystrophy.
Abaphandi bazama ukuqonda ubudlelwane obuyinkimbinkimbi phakathi kwamafutha emzimbeni, kunye nendlela ioli ye-Lorenzo ingahlaziywa ngayo ukuze iphumelele ngakumbi.
Unyango lwesibini lwe-ALD ye-cerebral yi- bone marrow transplant . Ingcamango ukubuyisela iiseli ezinesiphene i-ALD gene kunye neeseli ezine-gene ALD eziqhelekileyo kwaye ziya kuphuhla amafutha.
Ngokubhekiselele kwi-adrenomyeloneuropathy (AMN), akukho unyango oluye lwaphuhliswa. Ukuba i-adrenal disorder efana nesifo se-Addison sikhona, ukutshintshwa kwe-hormone yexesha elide kunika unyango.
U-Lorenzo Wenzani? Ngaba Usaphila?
Ngokudabukisayo, uLornzo waphulukana ne-ALD waza wafa ngoMeyi 30, 2008, ngolunye usuku emva kokuzalwa kwakhe kwangama-30. Uyaphila nguyise, u-Augusto, umntakwabo uFrancesco kunye nodade uCristina. Unina, uMikhaela (eboniswe ngubonwakude nguSusan Sarandon), wafa ngoJuni 10, 2000, umhlaza womphunga .
Imithombo:
Moser, Hugh, Ann Moser, Steven J Steinberg, & Gerald V Raymond. "X-Linked Adrenoleukodystrophy." GeneReviews. 27 uJulayi 2006. I-GeneTests. 6 Feyi 2009
"Ulwazi malunga neoli kaLornzo." Project Myelin. 6 Feyi 2009