Matenda akadali osamvetsetse bwino
Mafilimu a 1992 " Mafuta a Lorenzo " anabweretsa matenda osadziwika otchedwa adrenoleukodystrophy (ALD) padziko lapansi. Ndi matenda osokoneza bongo a myelin, omwe amatanthauza kuti myelin, "kutseka" kuzungulira mitsempha, imatha nthawi. Popanda myelin, mitsempha sichitha kugwira ntchito bwino, kapena ayi. Mwamwayi, thupi silingathe kukula m'malo mwa myelin, kotero matendawa akupita patsogolo - amakula kwambiri panthawi.
Kodi filimuyo "Oil of Lorenzo" inali yani?
Nchiyani chimayambitsa ALD, ndipo Ndani Amachikulitsa?
ALD ndi matenda obwera chifukwa cha majeremusi omwe amachokera ku X chromosome . Chifukwa cha momwe dera lawo limagwirira ntchito , anyamata okha ndiwo ali ndi mawonekedwe oopsa kwambiri a ALD. Matendawa amachokera mu thupi sangathe kuphwanya mamolekyu aakulu a mafuta, mwina thupi limadzipanga lokha kapena lomwe limalowa mthupi kudzera mu chakudya. Kafukufuku wasonyeza kuti izi zimatheka chifukwa cha mapuloteni othandizira omwe sagwira ntchito moyenera ndi kunyamula mamolekyu a mafuta kumene angaswe. Mamolekyu a mafuta amamanga ndi kutseka maselo, ndi kupweteka maselo a m'mitsempha mu ubongo ndi msana . ALD amakhudza pafupifupi mmodzi mwa amuna 20,000.
Jini imodzi, yotchedwa ABCD1, yadziwika kuti ikugwirizanitsidwa ndi ALD. Kuyezetsa magazi kumatheka kuti muwone ngati mkazi ali ndi jini lolakwika. Mwanjira imeneyi, mkazi yemwe adzalandira jini losadziwika adzadziwa ngati ali ndi chithandizo kapena ali ndi chithandizo ndipo akhoza kuchipereka kwa ana ake.
Kodi anyamata onse ali ndi ALD Die?
Pali mitundu yambiri yomwe ALD ikhoza kutenga. Mtundu woopsya kwambiri, womwe Lorenzo Odone anali nawo, ndi mawonekedwe a ubongo wa ubwana, kutanthauza kuti mitsempha mu ubongo imatheratu. Pafupifupi 35 mpaka 40 peresenti ya matenda onse a ALD ndi mtundu uwu, umene nthawi zambiri umapezeka pakati pa zaka 4 ndi 8 ali anyamata.
Anyamatawa nthawi zambiri amakhala olumala mu miyezi 6 mpaka 2, ndikufa nthawi ina.
Kodi Lorenzo Odone anali ndani?
ALD ingathenso kuoneka ngati multiple sclerosis , chifukwa chakuti thupi limatayika mosavuta m'thupi koma popanda kuwonongeka kwa ubongo wa mtundu wa ubongo. Fomu yachiwiriyi imatchedwa adrenomyeloneuropathy (AMN), imaimira pafupi 40 mpaka 45 peresenti ya zochitika zonse za ALD, ndipo zimakhudza amuna m'zaka zawo za pakati pa 20 kapena pakati.
Pafupifupi 20 peresenti ya akazi omwe ali ndi kachilombo koyambitsa matenda a ALD amakhala ndi zizindikiro zamatenda zomwe zimafanana ndi adrenomyeloneuropathy, koma izi zimayamba m'moyo (zaka 35 kapena mtsogolomu) ndipo zimayambitsa matenda oopsa kuposa amuna okhudzidwa.
Chifukwa chakuti adrenoleukodystrophy imapweteka mitsempha ya adrenal, matendawa akhoza kuyamba monga matenda a Addison, matenda a adrenal gland. Izi zikuimira pafupifupi 10 peresenti ya zochitika zonse za ALD, ndipo zimakhudza amuna pakati pa zaka ziwiri ndi akulu. Anyamata omwe ali ndi mawonekedwewa kawirikawiri amakhalanso ndi AMN ndi zaka zapakati. Odwala omwe ali ndi matenda a Addison amayesedwa kuti awone ngati ALD ndiye amene amachititsa vutoli.
Kodi Amadziwika Bwanji?
Kudziwa kwa ALD kumachokera ku zizindikiro zomwe mwana kapena wamkulu ali nazo. Maganizo a MRI (magnetic resonance imaging) a ubongo adzakhala ndi zotsatira zopanda pake.
Chifukwa mafuta sakuphwanyidwa bwino, kuyesa magazi a mtundu wa mafuta wotchedwa mafuta ochuluka kwambiri omwe amachititsa mafuta ambiri (VLCFA) amasonyeza kuti sizinali zachilendo pa 99 peresenti ya amuna.
Kodi ALD Angachiritsidwe?
Mwatsoka, pakadalibe mankhwala ochiritsira a ALD cerebral. Komabe, pali njira zingapo zomwe zikuyesedwa zomwe zikuwoneka kuchepetsa kuwonongedwa kwa matendawa. Njira imodzi ndiyo kugwiritsa ntchito " mafuta a Lorenzo ," opangidwa kuchokera ku mafuta a azitona ndi a rapese, komanso zakudya zochepa kwambiri. Mafuta, ngati atayambanso anyamata ndi ALD koma palibe zizindikiro, tsopano akudziwika kuti ali ndi phindu linalake popewera ubongo wa ubongo wa adrenoleukodystrophy.
Ochita kafukufuku akuyesetsabe kumvetsa maubwenzi ovuta pakati pa mafuta mu thupi, ndi momwe mafuta a Lorenzo angasinthiridwenso kuti agwire bwino.
Kodi mafuta a Lorenzo ndi otani?
Chithandizo chachiwiri cha ubongo ALD ndi kuika mafupa . Lingaliro ndilolowetsa m'malo maselo omwe ali ndi vuto la ALD jini ndi maselo omwe ali ndi ALD gene yachibadwa ndipo amathyola mafuta.
Malinga ndi adrenomyeloneuropathy (AMN), palibe mankhwala omwe apangidwenso. Ngati matenda a adrenal monga a Addison matenda alipo, nthawi yowonjezera mahomoni imapereka chithandizo.
Kodi Lorenzo Akuchita Motani? Kodi Adakali Ndi Moyo?
N'zomvetsa chisoni kuti Lorenzo anagonjetsa ALD ndipo anamwalira pa May 30, 2008, tsiku lina atamwalira. Iye akupulumuka ndi abambo ake, Augusto, mchimwene wake Francesco ndi mlongo Cristina. Amayi ake, Michaela (omwe amawonetsedwa mu filimuyo ndi Susan Sarandon), anamwalira pa June 10, 2000, khansa yamapapo .
Zotsatira:
Moser, Hugh, Ann Moser, Steven J Steinberg, & Gerald V Raymond. "X-Linked Adrenoleukodystrophy." GeneReviews. 27 July 2006. GeneTests. 6 Feb 2009
"Nkhani Zokhudza Mafuta a Lorenzo." Ntchito ya Myelin. 6 Feb 2009