Har yanzu ba a fahimci rashin lafiya ba
A 1992 fim din " Lorenzo Oil " ya kawo rashin lafiya wanda ake kira adrenoleukodystrophy (ALD) zuwa ga duniya. Yana da ciwon ciwon ƙwayar cuta mai zurfi, wanda ke nufin cewa myelin, "ruɗuwa" a kusa da jijiyoyi, ya rushe lokaci. Ba tare da myelin ba, jijiyoyi ba za su iya aiki ba, ko kuma a kowane lokaci. Abin takaici, jiki ba zai iya canza maye gurbin myelin ba, saboda haka cutar tana ci gaba - yana ci gaba da mummunan lokaci.
Menene fim din "Lorenzo's Oil" game da?
Mene ne ke haifar da ALD, kuma Wane ne Yake Tasowa?
ALD shi ne babban ciwon kwayar halitta wanda aka hade da X chromosome . Saboda hanyar da aka samu na jinsin , kawai yara suna da nauyin ALD mafi tsanani. Wannan cuta ya bar jikin da ba zai iya rushe manyan kwayoyin mai ba, ko dai jikin ne ya sa kansa ko wadanda suka shiga jikin ta hanyar abinci. Binciken ya nuna cewa wannan zai iya yiwuwa ne saboda wani furotin mai yaduwa wanda ya kasa yin aiki daidai kuma yana dauke da kwayoyin mai zuwa inda za'a karya su. Kayan kwayoyin halitta suna ginawa kuma sun ɓoye Kwayoyin, kuma suna cutar da kwayoyin jikinsu a cikin kwakwalwa da ƙwararre . ALD yana shafar mutum guda 20,000.
Kwayar daya, mai suna ABCD1, an gano cewa ana hade da ALD. Za a iya gwada gwajin halitta don ganin idan mace tana da gurbin cutar. Wannan hanya, wata mace wanda zai iya samun gadon mahaifa zai san ko ta sami ta (yana da mota) kuma zai iya ba da ita ga 'ya'yanta.
Shin dukkan yara da ALD sun mutu?
Akwai siffofin da yawa da ALD zasu iya ɗauka. Wani abu mafi banƙyama, abin da Lorenzo Odone yana da shi, shine ƙwayar ƙwayar yara, ma'ana cewa an lalata jijiyoyi a kwakwalwa. Kimanin kashi 35 zuwa 40 cikin dukan lokuta na ALD sune irin wannan, wanda yawancin yakan kasance tsakanin 4 zuwa 8 shekaru a cikin yara.
Wadannan yara zasu zama cikakku a cikin watanni 6 zuwa 2, kuma suna mutuwa a wani lokaci bayan.
ALD kuma zai iya bayyana kamar sclerosis mai yawa , a cikin cewa akwai hasara na aiki a cikin jiki amma ba tare da lalacewar ƙwayar cuta ta tsakiya ba. Wannan nau'i na biyu shine adrenomyeloneuropathy (AMN), yana wakiltar kimanin kashi 40 zuwa 45 cikin dukkanin matakan ALD, kuma yana shafar maza a cikin shekaru 20 ko tsakiyar.
Kimanin kashi 20 cikin 100 na matan da suke ɗauke da kwayar cutar ta ALD ta haifar da tsarin da ke nuna damuwa kamar yadda adrenomyeloneuropathy ya yi, amma wannan zai fara daga baya (shekaru 35 da baya) kuma ya haifar da cutar mai tsanani fiye da maza.
Saboda adrenoleukodystrophy ya lalata gland, wannan cuta zai iya farawa kamar cutar Addison , wani rashin lafiya na gland. Wannan yana wakiltar kashi 10 cikin 100 na duk abubuwan ALD, kuma yana shafar maza tsakanin shekaru 2 da girma. Matasa maza da wannan nau'i sukan saba AMN ta tsakiyar shekaru. Yara da aka bincikar cutar ta Addison ta kasance ana jarraba su don ganin ko akwai ALD a tushen matsalar.
Yaya aka gano shi?
Sakamakon ganewar asali na ALD ya dogara akan alamun da yaron yaro ko yaro yana da. MRI (yanayin haɓakaccen haske) na kwakwalwa zai sami sakamako masu haɗari.
Domin ba a karya raguwa ba da kyau, gwada jini mai nauyin nauyin mai mai kira mai karfi mai tsawo (VLCFA) ya nuna matakan da ke cikin kashi 99 cikin dari na maza.
Shin za a iya warke ALD?
Abin takaici, har yanzu babu cikakken maganin maganin cerebral ALD. Duk da haka, an yi amfani da hanyoyi da dama da suke neman jinkirin halakar cutar. Ɗaya hanya ita ce amfani da " man fetur na Lorenzo ," wanda aka yi daga zaitun da man fetur, da kuma rageccen mai mai mai. Man fetur, idan ya fara samin yara tare da ALD amma babu alamar cututtuka, yanzu an san shi yana da amfani wajen hana ƙwayar ƙwayar yara ta adrenoleukodystrophy.
Masu bincike suna ƙoƙari su fahimci dangantaka mai mahimmanci tsakanin fats a cikin jiki, da kuma yadda za'a iya canza man fetur na Lorenzo don ya fi tasiri.
Wani magani na biyu na cerebral ALD shine sashi na karuwa . Manufar ita ce maye gurbin sel wanda ke da mummunan ALD tare da kwayoyin da ke da nauyin ALD na al'ada kuma zai karya kasusuwa.
Amma ga adrenomyeloneuropathy (AMN), ba a taɓa samun magani ba. Idan wani mummunan cuta kamar Addison ya kasance a halin yanzu, maye gurbin hormone na dogon lokaci yana ba da magani.
Ta yaya Lorenzo keyi? Yana Har yanzu Rayuwa?
Abin baƙin ciki shine, Lorenzo ya yi yaƙin tare da ALD kuma ya mutu a ranar 30 ga Mayu, 2008, wata rana bayan ranar haihuwarsa ta 30. Mahaifinsa, Augusto, dan uwansa Francesco da 'yar'uwar Cristina sun tsira. Mahaifiyarsa, Michaela (wanda aka nuna a fim din Susan Sarandon), ya mutu ranar 10 ga watan Yunin 2000, cutar kanjamau .
Sources:
Moser, Hugh, Ann Moser, Steven J Steinberg, da Gerald V Raymond. "X-Linked Adrenoleukodystrophy." GeneReviews. 27 Yuli 2006. GeneTests. 6 Feb 2009
"Bayani Game da Kamfanin Lorenzo." Shirin Myelin. 6 Feb 2009