Adrenoleukodystrophy
Incamake
Adrenoleukodystrophy (ah-dree-noh-loo-koh-DIS-truh-fee) ni ubwoko bw'indwara ikomoka ku miryango (genetic) yangiza uruhu (myelin sheath) rukingira uturemangingo tw'imbere mu bwonko.
Muri adrenoleukodystrophy (ALD), umubiri wawe ntushobora gusenya acide z'ibinure birebire cyane (VLCFAs), bituma VLCFAs zuzuye zikenera mu bwonko, mu mikorere y'imbere mu mubiri no mu gice cy'adrenal.
Ubwoko bwa ALD busanzwe ni X-linked ALD, iterwa n'ikosa rya gene ku gice cya X chromosome. X-linked ALD ibagiraho ingaruka cyane abagabo kurusha abagore, ari bo batwara iyi ndwara.
Ubwoko bwa X-linked ALD burimo:
- ALD itangira mu bwana. Ubu bwoko bwa X-linked ALD busanzwe butangira hagati y'imyaka 4 na 10. Igice cyera cy'ubwonko kirangirika buhoro buhoro (leukodystrophy), kandi ibimenyetso birushaho kuba bibi uko iminsi igenda. Niba idasanzwe hakiri kare, ALD itangira mu bwana ishobora gutera urupfu mu myaka itanu kugeza ku icumi.
- Indwara ya Addison. Ibiro by'imisemburo (ibihe by'adrenal) akenshi biba bidakora imisemburo ihagije (adrenal insufficiency) mu bantu bafite ALD, bituma habaho ubwoko bwa X-linked ALD buzwi nka Addison's disease.
- Adrenomyeloneuropathy. Ubu bwoko bwa X-linked ALD butangira mu bukure ni ubwoko buke cyane kandi butera imbere buhoro buhoro butera ibimenyetso nko kugenda gukomeye no kudakora neza kw'umwijima n'amara. Abagore batwara ALD bashobora kugira ubwoko buke bwa adrenomyeloneuropathy.
Kupima
Kugira ngo hamenyekane ALD, muganga wawe azasuzumira ibimenyetso byawe n'amateka yawe y'ubuzima n'umuryango wawe. Muganga wawe azakora isuzuma ngaruka mbere kandi agategeka ibizamini bitandukanye, birimo:
- MRI. Amabuye y'amabuye akomeye n'amayugi ya radiyo birema amashusho arambuye y'ubwonko bwawe mu isuzuma rya MRI. Ibi bituma abaganga bashobora kumenya ibibazo mu bwonko bwawe bishobora kugaragaza adrenoleukodystrophy, harimo no kwangirika kw'imikaya y'imbere (ibara ryera) ry'ubwonko bwawe. Abaganga bashobora gukoresha ubwoko butandukanye bwa MRI kugira ngo babone amashusho arambuye cyane y'ubwonko bwawe kandi bamenye ibimenyetso bya leukodystrophy hakiri kare.
- Isuzuma ry'ububasha bw'amaso. Gupima ibisubizo by'ububasha bw'amaso bishobora gukurikirana uko indwara itera imbere mu bagabo badafite ibindi bimenyetso.
- Ubutabire bw'uruhu n'ubuhinzi bw'uturemangingo twa fibroblast. Agaciro gato k'uruhu gashobora gufatwa kugira ngo harebwe niba hari umubare munini wa VLCFA muri bimwe mu bihe.
Isuzuma ry'amaraso. Ibi bizamini bireba niba hari umubare munini w'amavuta maremare cyane (VLCFAs) mu maraso yawe, ari byo bimenyetso by'ingenzi bya adrenoleukodystrophy.
Abaganga bakoresha ibipimo by'amaraso kugira ngo bapime ibibazo cyangwa impinduka ziterwa na ALD. Abaganga kandi bakoresha ibizamini by'amaraso kugira ngo basuzume uko imisemburo yawe ikora neza.
Uburyo bwo kuvura
Adrenoleukodystrophy nta muti wayikiza. Ariko, gushimura uturemangingo tw'imbuto bishobora guhagarika iterambere rya ALD niba byakozwe igihe ibimenyetso by'indwara bya mbere bigaragaye. Abaganga bazibanda ku kugabanya ibimenyetso byawe no kugabanya iterambere ry'indwara.
Uburyo bwo kuvura bushobora kuba burimo:
- Gushimura uturemangingo tw'imbuto. Ibi bishobora kuba amahitamo yo kugabanya cyangwa guhagarika iterambere rya adrenoleukodystrophy mu bana niba ALD imenyekanye kandi ikavurwa hakiri kare. Uturemangingo tw'imbuto dushobora gufatwa mu mugozi w'amagufa binyuze muri gushimura umuguzi w'amagufa.
- Kuvura ubusembwa bw'ijisho ry'adrenal. Abantu benshi bafite ALD barwara ubusembwa bw'ijisho ry'adrenal kandi bagomba gupimwa inshuro ku bijyanye n'ijisho ry'adrenal. Ubusembwa bw'ijisho ry'adrenal bushobora kuvurwa neza hakoreshejwe imiti ya steroide (ubuvuzi bwo gusimbuza corticosteroid).
- Imiti. Muganga wawe ashobora kugutegekera imiti ifasha kugabanya ibimenyetso, harimo gukomera kw'umubiri no gutakaza ubwenge.
- Ubuvuzi bw'umubiri. Ubuvuzi bw'umubiri bushobora gufasha kugabanya imitetere y'imitsi no kugabanya ubukomere bw'imitsi. Muganga wawe ashobora kugutegeka amagare y'abamugaye n'ibindi bikoresho byo kugenda niba bibaye ngombwa.
Mu bushakashatsi bw'amahugurwa bw'abaganga bwakozwe vuba aha, abahungu bafite ALD ya cerebrale mu ntangiriro bavuwe hakoreshejwe ubuvuzi bwa gene nk'ubundi buryo bwo gushimura uturemangingo tw'imbuto. Ibyavuye mu bushakashatsi bw'ubu buvuzi bwa gene birasekeje. Iterambere ry'indwara ryahindutse mu kigero cya 88% cy'abahungu bitabiriye ubushakashatsi. Ubushakashatsi bundi bukenewe kugira ngo hamenyekane ibyavuye mu gihe kirekire n'umutekano w'ubu buvuzi bwa gene kuri ALD ya cerebrale.
Umuhakana: Kanama ni urubuga rw'amakuru y'ubuzima kandi ibisubizo byayo ntibigize inama z'ubuvuzi. Jya ubona umuganga ufite uruhushya rwo gukorera hafi yawe mbere yo gukora impinduka izo ari zo zose.