Adrenoleukodystrophy ni iki? Ibimenyetso, Intandaro, & Ubuvuzi

Adrenoleukodystrophy (ALD) ni indwara idasanzwe y’umuzuko iterwa n’imiterere mibi y’impyiko, igira ingaruka ku mikorere y’ubwonko n’ibice by’imisemburo y’umubiri. Iyi ndwara iherwa mu miryango, ibaho iyo umubiri utashobora gusenya neza amavuta amwe na amwe yitwa acide gras longues chaînes, bigatuma atera imbere kandi akangiza ibice by’ingenzi by’umubiri wawe. Nubwo ALD igira ingaruka ku bantu mu buryo butandukanye, gusobanukirwa iyi ndwara bishobora kugufasha kumenya ibimenyetso hakiri kare no gushaka ubuvuzi bushobora kugabanya umuvuduko wayo.

Adrenoleukodystrophy ni iki?

Adrenoleukodystrophy iterwa n’impinduka mu gene yitwa ABCD1, isanzwe ifasha umubiri wawe gutunganya ubwoko bumwe na bumwe bw’amavuta. Iyo iyi gene itakoze neza, ibintu by’amavuta birasamirana mu bwonko, mu mugongo, no mu misemburo y’umubiri.

Iyi ndwara yiswe uko kubera ibice byangizwa cyane. “Adreno” bivuga imisemburo y’umubiri iri hejuru y’impyiko, “leuko” bivuga ibice byera by’ubwonko, naho “dystrophy” ikaba isobanura kwangirika kubaho buhoro buhoro.

ALD ni indwara iterwa n’ikibazo cy’igitsina, bivuze ko gene iyitera iba ku gitsina X. Uburyo bwo guherwa bw’iyi ndwara busobanura impamvu igira ingaruka ku bagabo kurusha abagore, kuko abagabo bafite chromosome imwe gusa ya X mu gihe abagore bafite ebyiri.

Ni ubwoko ki bwa Adrenoleukodystrophy?

ALD iboneka mu buryo butandukanye, buri bwoko bufite igihe cyabwo n’uburemere bwacyo. Ubwoko ushobora kurwara bugenda bukurikije imyaka ufite ubwo ibimenyetso bigaragara bwa mbere n’ibice by’umubiri byangizwa cyane.

ALD y’ubwonko mu bwana ni bwo bwoko bukomeye cyane, isanzwe itangira hagati y’imyaka 4 na 10. Ubwo bwoko burakwirakwira vuba kandi bugira ingaruka ku bice byera by’ubwonko, bigatuma habaho ibibazo bikomeye by’imikorere y’ubwonko. Abahungu bafite ubwo bwoko bashobora kuboneka nk’abameze neza mbere y’uko ibimenyetso bigaragara.

Adrenomyeloneuropathy (AMN) isanzwe itangira mu bukure, akenshi hagati y’imyaka 20 na 30. Ubwo buryo buratera imbere buhoro buhoro kandi bugira ingaruka ahanini ku mugongo n’imikaya y’impera. Abantu benshi bafite AMN bashobora kugira ubuzima busanzwe mu myaka myinshi, babifashijwemo n’ubuvuzi bukwiye.

Indwara ya Addison gusa igira ingaruka ku mitsi ya adrenal gusa idakora ku mikorere y’ubwonko. Abantu bafite ubwo buryo bashobora kugira ibibazo byo kubura imisemburo ariko ntibagire ibimenyetso by’uburwayi bw’imikorere y’ubwonko nk’uko bigaragara mu bundi buryo.

Bamwe mu bantu baguma ari abatwaye indwara badafite ibimenyetso, cyane cyane abagore, bashobora kutazigera bagira ibimenyetso bigaragara ariko bashobora kwanduza abana babo.

Ese ibimenyetso bya Adrenoleukodystrophy ni ibihe?

Ibimenyetso bya ALD bishobora gutandukana cyane bitewe n’ubwoko ufite n’imyaka ufite igihe bitangira. Kumenya hakiri kare ibyo bimenyetso bishobora gutuma uhabwa ubuvuzi n’ubufasha ku gihe.

Mu bwana, muri ALD ikora ku bwonko, ushobora kubona impinduka mu myitwarire cyangwa mu ishuri. Ibyo bimenyetso bya mbere bishobora kuba bito kandi bishobora kuba birimo:

• Kugorana kwibanda cyangwa kwita ku ishuri
• Impinduka mu kwandika cyangwa mu guhuza ibintu
• Ibibazo by’ububone cyangwa kumva
• Kwishima cyane cyangwa ibibazo by’imyitwarire
• Kugorana gusobanukirwa cyangwa gukurikiza amabwiriza

Uko ALD ikora ku bwonko mu bwana itera imbere, ibimenyetso bikomeye by’uburwayi bw’imikorere y’ubwonko bigaragara. Ibyo bishobora kuba birimo ibibazo byo gutakaza ubwenge, kugorana kwishima, gutakaza amagambo, n’ibibazo byo kugenda no kubungabunga umubiri.

AMN itangira mu bukure isanzwe igira ibimenyetso bitandukanye bitera imbere buhoro buhoro. Ushobora kugira:

• Ubugufi n’intege mu birenge
• Kugorana kugenda cyangwa kubungabunga umubiri
• Ibibazo byo kugenzura umwanya w’inkari cyangwa umunaniro
• Kubabara cyangwa kunanirwa mu ntoki n’ibirenge
• Ibibazo by’imibonano mpuzabitsina

Ibimenyetso byo kudakora neza kw’impyiko z’adrenal bishobora kugaragara mu bwoko ubwo aribwo bwose bwa ALD kandi bishobora kuba aribyo bimenyetso bya mbere ubona. Ibyo birimo umunaniro udashira, igabanuka ry’uburemere bw’umubiri, umukara w’uruhu, igitutu cy’amaraso gito, no kwifuza ibiryo birimo umunyu mwinshi.

Abagore bafite gene ya ALD bashobora kugira ibimenyetso byoroheje nyuma y’imyaka myinshi, bikunze kuba harimo ubugufi bw’amaguru cyangwa impinduka nto zo mu bwonko, nubwo benshi baguma badafite ikimenyetso na kimwe.

Icyateza Adrenoleukodystrophy?

ALD iterwa n’impinduka mu gene ya ABCD1, itanga amabwiriza yo gukora poroteyine ifasha gutwara acide z’amavuta mu miterere y’uturemangingo twitwa peroxisomes. Iyo iyi gene idakora neza, umubiri wawe ntushobora gusenya acide z’amavuta maremare neza.

Izi acide z’amavuta zikwirakwira mu ngingo zitandukanye z’umubiri wawe, cyane cyane mu bwonko bwera no mu mpyiko z’adrenal. Tekereza ko ari nk’uburyo bwo gusubiza ibintu mu kazi bwamenekanye - ibintu byangiza bikwiye gutunganywa no gukurwaho ahubwo bikomeza kwiyongera kandi bigatera ibibazo.

Iyi ndwara iragenderwaho mu buryo bwa X-linked recessive. Ibi bivuze ko iyi gene iherereye kuri chromosome X, kandi kubera ko abagabo bafite chromosome X imwe gusa, bafite amahirwe menshi yo kwandura iyo bagize iyi gene yahindutse.

Abagore bafite chromosome X ebyiri, bityo bakeneye impinduka kuri kopi zombi kugira ngo bagire ikibazo gikomeye. Ariko kandi, abagore bafite kopi imwe yahindutse ni abazitwaye kandi bashobora kugira ibimenyetso byoroheje nyuma y’imyaka myinshi kubera igikorwa cyitwa X-inactivation.

Ubukana n’ubwoko bwa ALD bishobora gutandukana ndetse no mu muryango umwe, bigaragaza ko ibindi bintu by’umutungo kamere cyangwa ibidukikije bishobora kugira uruhare mu mikurire n’iterambere ry’iyi ndwara.

Iyo ukwiye kubona muganga kubera Adrenoleukodystrophy?

Ukwiye gushaka ubufasha bw’abaganga niba ubona ibimenyetso by’ubwonko bidashira cyangwa ibimenyetso byo kudakora neza kw’impyiko z’adrenal, cyane cyane niba ufite amateka y’umuryango wa ALD. Gusuzuma hakiri kare bishobora gufasha kumenya iyi ndwara mbere yuko itera imbere cyane.

Ku bana, hamagara muganga wabo w’abana niba ubona impinduka zitumvikana mu myitwarire, amanota mabi mu ishuri, ibibazo by’ububasha bw’amaso cyangwa amatwi, cyangwa ugutinda gukora ibintu. Ibi bimenyetso bishobora kugaragara nk’ibidafite aho bihuriye, ariko hamwe bishobora kugaragaza indwara y’ubwonko.

Abakuze bagomba kujya kwa muganga niba bafite intege nke zikomeza mu maguru, ugutinda kugenda, ibibazo byo kugenzura umusemburo cyangwa inkari, cyangwa ibimenyetso byo kubura imisemburo ya adrenal nko kubura imbaraga zitumvikana no kugabanuka k’uburemere. Ntugatege amatsiko kugira ngo ibimenyetso bikomeze kuba bibi mbere yo gushaka ubufasha.

Niba uri gutegura kubyara kandi ufite amateka y’umuryango wa ALD, inama z’iby’indwara zishobora kugufasha gusobanukirwa ibyago byawe n’ibyo wakora. Hariho ibizamini bishobora gukorwa kugira ngo umenye niba ufite igene ryahindutse.

Abagore bazi ko bafite igene ryahindutse bagomba kuganira n’abaganga babo ku bijyanye n’uburyo bwo gukurikirana, nubwo bumva bameze neza, kuko ibimenyetso bishobora kuza nyuma mu buzima.

Ni ibihe bintu byongera ibyago byo kurwara Adrenoleukodystrophy?

Ikintu nyamukuru cyongera ibyago byo kurwara ALD ni ukugira amateka y’umuryango w’iyi ndwara, kuko ari indwara ikomoka ku gene. Gusobanukirwa amateka y’ubuzima bw’umuryango wawe bishobora kugufasha kumenya ibyago hakiri kare.

Kuba umugabo byongera cyane ibyago byo kurwara uburwayi bukomeye bwa ALD bitewe n’uko igene riherereye kuri chromosome X. Abagabo bagira igene ryahindutse bazahura n’ubwo burwayi, nubwo uburemere n’igihe bishobora gutandukana.

Kugira nyina ufite igene rya ALD bigushyira mu kaga, kuko ba nyina bashobora guherereza abana babo iyo ndwara. Buri mwana w’umubyeyi ufite igene ryahindutse afite amahirwe 50% yo kurihererwa.

Imyaka ishobora kugira uruhare mu bwoko bwa ALD ushobora kurwara. ALD yo mu bwonko bw’abana isanzwe igaragara hagati y’imyaka 4 na 10, mu gihe AMN isanzwe igaragara mu bukure. Ariko, ibyo ntabwo ari ukuri, kandi ibimenyetso bishobora rimwe na rimwe kugaragara hanze y’iyo myaka.

Umuhindo wa gene usanzwe udasanzwe ushobora kugira ingaruka ku buryo ALD ikugiraho ingaruka, nubwo abashakashatsi bagikora ubushakashatsi kuri ibyo bintu. Ibintu byo mu kirere ntibiramenyekana neza, bituma gakondo ya gene iba ikintu gikomeye cyane kizwi cyane cyo kuba ikintu cyateza akaga.

Ni iki gishobora kuba ingaruka mbi za Adrenoleukodystrophy?

ALD ishobora gutera ingaruka mbi zikomeye zigira ingaruka ku bice byinshi byumubiri, nubwo ingaruka mbi ushobora guhura nazo biterwa nubwoko bwa ALD ufite nuburyo bwihuta bwayo. Gusobanukirwa ibyo bishoboka bishobora kugufasha kwitegura kwitabwaho kwa buri gihe.

Ingaruka mbi zo mu bwonko akenshi ziba ikintu gikomeye cyane cya ALD. Mu bana bafite ALD yo mu bwonko, izi ngaruka zishobora kuba:

• Gutakaza ubushobozi bwo kwibuka no gutekereza buhoro buhoro
• Imihango ishobora kuba ikomeye kuyigenzura
• Gutakaza ubushobozi bwo kubona no kumva
• Kugorana kw'umugongo, bishobora gutera ibibazo byo kurya
• Gutakaza burundu ubushobozi bwo kugenda no kugenda

Izi ngaruka mbi zikomeye zikunda kuza vuba mu bana bafite ALD yo mu bwonko, akenshi mu mezi make cyangwa imyaka mike, bituma gutabara hakiri kare ari ingenzi.

Muri AMN, ingaruka mbi zikunda kuza buhoro buhoro ariko zishobora kugira ingaruka ku mibereho yawe. Ushobora kugira ikibazo cyo kugenda buhoro buhoro, amaherezo ukenera ibikoresho byo kugenda cyangwa igare ry'abamugaye. Kugira ikibazo cyo kwitinya no guhita bishobora kugira ingaruka ku bikorwa bya buri munsi kandi bikaba bisaba ubuvuzi buhoraho.

Kubura imisemburo ya Adrenal ni ingaruka mbi ikomeye ishobora kubaho muburyo ubwo aribwo bwose bwa ALD. Utabonye imiti ikwiye yo gusimbuza imisemburo, ibi bishobora gutera ikibazo cy'ubuzima cy'Adrenal, gikunze kugaragazwa no kugwa cyane kw'amaraso, kukama, no gucika intege.

Ingaruka zo mu mutwe n’izo mu mibanire na zo ni ingenzi kubitekerezaho. Kuhangana n’uburwayi bw’imitsi y’ubwonko butera imbere bishobora gutera umuntu kwiheba, guhangayika, no kwibira mu bandi, haba ku barwayi ubwabo ndetse n’imiryango yabo. Ibi bibazo byo mu mutwe ni ibisanzwe, bikwiye kwitabwaho no gufashwa.

Mu bihe bitoroshye, bamwe mu barwayi ba ALD bashobora kugira izindi ngaruka nk’ibibazo byo mu mutwe cyangwa ububabare bw’umuriro mu bwonko, nubwo ibi bidafata abantu benshi ugereranyije n’ingaruka z’imitsi y’ubwonko n’iz’imisemburo.

ALD imenyeshwa gute?

Kumenya ALD bisanzwe bitangira no kumenya ibimenyetso no kumenya amateka y’ubuzima bw’umuryango wawe, bikurikirwa n’ibipimo by’amaraso n’ibizamini byo kureba imbere y’umubiri. Muganga wawe ashobora gutangira akumenyesheje amateka yawe y’ubuzima n’isuzuma ry’umubiri kugira ngo arebe uko imitsi y’ubwonko ikora ndetse arebe ibimenyetso by’ibibazo by’umusemburo wa adrenal.

Ikizamini cya mbere cy’ingenzi gipima amavuta maremare cyane mu maraso yawe. Urugero rwinshi rw’ibi bintu rugaragaza ALD, kuko umubiri wawe utabasha kubisya neza iyo gene ya ABCD1 idakora neza.

Isuzuma rya gene rishobora kwemeza uburwayi binyuze mu kumenya impinduka muri gene ya ABCD1. Iki kizamini gifite akamaro cyane ku bagize umuryango bashaka kumenya niba bafite iyo gene, nubwo bataragira ibimenyetso.

Amashusho ya MRI y’ubwonko afasha abaganga kubona impinduka mu mitsi yera iranga ALD. Aya mashusho ashobora kwerekana ingano y’ubwonko burimo icyo kibazo kandi agafasha kumenya ubwoko bwa ALD ushobora kuba ufite. Uburyo impinduka zigaragara kuri MRI zishobora kandi gufasha kumenya uko uburwayi bushobora gutera imbere.

Ibizamini byo gusuzuma imikorere ya adrenal bipima urugero rw’imisemburo kugira ngo hamenyekane niba imisemburo yawe ya adrenal ikora neza. Ibi bizamini bishobora kuba birimo gupima cortisol, ACTH, n’izindi misemburo zigaragaza ubuzima bw’imisemburo ya adrenal.

Ibizamini byiyongereyeho bishobora kuba harimo ibyo gusuzuma imiterere y'imitsi (nerve conduction studies) kugira ngo harebwe uko imitsi yo ku ruhu ikora, cyane cyane niba ufite ibimenyetso bya AMN. Muganga wawe ashobora kandi kugutegeka gukora ibizamini byo gukurikirana buri gihe kugira ngo harebwe uko iyi ndwara itera imbere.

Ubuvuzi bw'indwara ya Adrenoleukodystrophy ni bwoki?

Ubuvuzi bwa ALD bugamije guhangana n'ibimenyetso, kugabanya iterambere ryayo aho bishoboka, no kubungabunga ubuzima bwiza. Nubwo nta muti urasohoka, hari uburyo butandukanye bushobora kugufasha kubaho neza ufite iyi ndwara kandi bikabuza iterambere ryayo.

Ubuvuzi bwo gusimbuza imisemburo ni ingenzi niba ufite ikibazo cyo kudakora neza kw'imisemburo y'umwijima. Gufata cortisol y'imiti n'izindi misemburo rimwe na rimwe bishobora gusimbuza neza ibyo imisemburo yawe idashobora gukora. Ubu buvuzi busanzwe bukorwa ubuzima bwose ariko bushobora kunoza cyane imbaraga zawe, ubushake bwo kurya, n'imiterere y'ubuzima muri rusange.

Ku bana bafite ALD yo mu bwonko, gushimangira uturemangingo tw'amaraso (hematopoietic stem cell transplantation) (gusimbuza umugufi w'amagufa) bishobora kuba amahitamo mu bihe byambere. Ubu buvuzi bushobora guhagarika iterambere ry'indwara y'ubwonko, nubwo bufite ibyago byinshi kandi bisaba isuzuma rikomeye kugira ngo harebwe niba uri umukandida ukwiye.

Amavuta ya Lorenzo, akaba ari ivangurura ry'amavuta yihariye, byari byitezwe ko afasha mu kurwanya ALD, ariko ubushakashatsi bwerekanye akamaro gato ku bantu benshi. Bamwe mu baganga bashobora kubivuga nk'uburyo bw'inyongera, nubwo bidakwiye kwitwa ubuvuzi bw'ibanze.

Ubuvuzi bwa gene ni ubuvuzi bushya bwerekana ibyiringiro mu bushakashatsi. Ubu buryo burimo gushyira kopi ikora ya gene ya ABCD1 mu mitobe yawe, bishobora gutuma ishobora gutunganya amavuta neza.

Kwita ku murwayi ni ingenzi mu guhangana n'ibimenyetso bya ALD. Ibi bishobora kuba harimo imyitozo ngororamubiri kugira ngo ugume ufite ubushobozi bwo kugenda, kuvura ibikorwa bya buri munsi, kuvura ibibazo byo kuvuga, no gufashwa mu mirire niba kugira ibibazo byo kurya.

Imiti ishobora gufasha mu gukumira ibimenyetso bimwe na bimwe nka kwikubita, gukomera kw’imitsi, cyangwa ububabare. Itsinda ry’abaganga bazakorana nawe kugira ngo bashake uburyo bwiza bwo kuvura bukubereye.

Uko wakwita kuri Adrenoleukodystrophy iwawe?

Kwita kuri ALD iwawe bisobanura guhanga ibidukikije bifasha bikwiriye ibyo ukeneye uko igihe gihita, mugihe ukomeza ubwigenge n’umutuzo uko bishoboka kose. Uburyo bwawe buzaterwa n’ibimenyetso ufite n’uburyo iyi ndwara ikomeza gutera imbere.

Niba ufashe imiti igomba gusimbura imisemburo kubera kubura imisemburo ya adrenal, gukomeza ni ingenzi. Fata imiti yawe nk’uko yagutegetswe, kandi ujye witwaza hydrocortisone y’ubufasha igihe cyose. Menya ibimenyetso by’ikibazo cya adrenal kandi umenye igihe wakoresha imiti y’ubufasha cyangwa ugashaka ubufasha bw’abaganga vuba.

Gukora imyitozo ngororamubiri ukurikije ubushobozi bwawe bishobora kugufasha kugumana imbaraga n’ubushobozi bwo kugenda. Korana n’umuganga w’imiterere kugira ngo utegure gahunda y’imyitozo ikubereye. Ndetse n’imikino yoroheje nko gukora imyitozo yo kwambara cyangwa imikino yo mu mazi bishobora kugira akamaro.

Umutekano w’inzu urahinduka ikintu gikomeye uko ubushobozi bwo kugenda buhinduka. Tegura gushyira ibikoresho byo gufata mu bwiherero, ukureho ibintu bishobora gutera umuntu kugwa, kandi ube ufite amatara ahagije mu rugo rwawe. Abaganga b’ubuvuzi bashobora kugutekerezaho impinduka zihariye zishobora kugufasha gukora ibikorwa bya buri munsi byoroshye.

Ubufasha mu bijyanye n’imirire bushobora kuba ngombwa niba gutema bikugora. Korana n’umuganga w’imirire kugira ngo ube wizeye ko uboneye imirire ihagije, kandi umenye uburyo bwo guhindura imiterere cyangwa ubundi buryo bwo kurya niba bibaye ngombwa. Kuguma ufite amazi ahagije ni ingenzi cyane niba ufite ikibazo cya adrenal.

Ubufasha bwo mu mutwe ni ingenzi kimwe n’ubuvuzi bw’umubiri. Huza n’amatsinda y’ubufasha, haba mu bantu cyangwa kuri internet, aho ushobora gusangira ibyabaye n’abandi bumva ibyo ucamo. Ntutinye gushaka inama niba uhanganye n’ibibazo byo mu mutwe byo kubaho ufite ALD.

Komeza kwandika amakuru arambuye y’ibimenyetso byawe, imiti, n’impinduka zose ubona. Aya makuru afasha itsinda ry’abaganga bawe gufata ibyemezo by’ubuvuzi bifatika kandi ashobora kuba afite akamaro mu gukurikirana uko iyi ndwara itera imbere.

Wategura gute uruzinduko rwawe kwa muganga?

Gutegura neza uruzinduko rwawe kwa muganga bishobora kugufasha gukoresha neza igihe cyanyu hamwe kandi bikakwemerera kubona amakuru n’ubuvuzi ukeneye. Tangira wandike ibibazo byawe byose n’impungenge mbere y’uruzinduko, kugira ngo utibagiwe ikintu icyo ari cyo cyose gikomeye mu gihe cy’uruzinduko.

Komeza ibitabo by’ibimenyetso ibyumweru bike mbere y’uruzinduko rwawe, ugaragaza impinduka zose mu mimerere yawe, ibimenyetso bishya, cyangwa impungenge ku bijyanye n’ubuvuzi bwawe buriho. Fata mu buryo burambuye igihe ibimenyetso biba, uko bikomeye, n’icyo kiba gifasha cyangwa kibitera.

Zana urutonde rwuzuye rw’imiti yose ukoresha, harimo n’umwanya wo kuyifata, ibinyobwa by’imiti, n’imiti igurwa mu maduka. Niba ukoresha hydrocortisone y’ubuhanga, menya neza ko muganga wawe azi ibyabaye vuba aha wabikoresheje.

Kora amakuru yose y’ubuvuzi, ibisubizo by’ibizamini, cyangwa raporo zivuye ku bandi baganga wabonye kuva ku ruzinduko rwawe rushize. Niba wakoze ibizamini by’amashusho cyangwa amaraso ahandi, zana kopi cyangwa menya neza ko muganga wawe ashobora kubona ibisubizo.

Teganya kuzana umuntu wo mu muryango cyangwa inshuti mu ruzinduko, cyane cyane niba muganira ku byemezo by’ubuvuzi bigoye cyangwa niba ibibazo byo kwibuka cyangwa kwibanda bigukomereye kubika amakuru. Bashobora kugufasha guharanira inyungu zawe no kwibuka ibintu by’ingenzi mu biganiro.

Tegura ibibazo byihariye ku burwayi bwawe, nka uko bwakomeza, ibimenyetso bishya byo kwitondera, cyangwa uko imiti ukoresha ubu ikora. Ntugatinye gusaba ko bagusobanurira ibyo utumva muganga akubwiye.

Ni iki gikuru wakura mu kumenya Adrenoleukodystrophy?

Ikintu gikomeye cyo kumenya kuri ALD ni uko nubwo ari indwara ikomeye y’impyiko, kuvumburwa hakiri kare no kuvurwa neza bishobora kugira ingaruka zikomeye ku mibereho yawe kandi bigatuma iterambere ryayo ridafata umuvuduko. Uburambe bwa buri muntu kuri ALD ni bwihariye, kandi kugira iyi ndwara ntibivuze gutakaza ibyiringiro byo kugira ubuzima bufite icyo buvuze.

Ubusembwa bw’impyiko, bushobora kubaho muri ubu bwoko bwose bwa ALD, buravurwa neza hakoreshejwe imiti ishyira mu mwanya w’imisemburo. Gucunga neza uyu mucyo w’uburwayi bishobora kugufasha kumva umeze neza kandi bikarinda ingaruka zikomeye.

Ku miryango ibayeho na ALD, inama n’isuzuma ry’impyiko bishobora gutanga amakuru y’agaciro mu gutegura umuryango no kuvumbura hakiri kare mu bandi bagize umuryango. Kumenya uko umuntu aba ari umutwaye indwara bishobora gufasha abagore gufata ibyemezo by’ubwenge ku bijyanye no kugenzura ubuzima bwabo.

Ubushakashatsi ku miti mishya ya ALD bukomeza gutera imbere, ubuvuzi bw’impyiko bukaba bugaragaza icyizere cyihariye mu bisubizo by’ubushakashatsi bwa vuba. Kuguma ufite aho uhurira n’ibigo byita ku ndwara ya ALD bishobora kugufasha kubona iterambere rya nyuma n’ibizamini by’ubushakashatsi.

Kubaka urusobe rukomeye rwo gufashanya, harimo abaganga bumva ALD, umuryango ushyigikira n’inshuti, no guhura n’andi miryango yibasiwe n’iyi ndwara, bishobora kugira itandukaniro rikomeye mu guhangana n’ibibazo ALD igaragaza.

Ibibazo bikunze kubaho kuri Adrenoleukodystrophy

Q.1: Ese abagore bashobora kugira ibimenyetso bya ALD?

Yego, abagore bafite gene ya ALD bashobora kurwara, nubwo ibimenyetso byabo bikunze kuba byoroheje kurusha ibyo abagabo bagira. Hagati ya 20% by’abagore bafite iyi gene bagaragaza ibimenyetso bimwe, bikunze kuba ububabare buke mu birenge cyangwa ugukomera mu rugendo bigaragara mu myaka y’ubukure, akenshi nyuma y’imyaka 40. Ibi bimenyetso bikunda gutera gahoro kandi bikunze kutagera ku rwego rukomeye nk’ibibazo by’ubwonko biboneka mu bagabo barwaye ALD.

Q.2: Hari ubuvuzi bwa ALD?

Kuri ubu, nta kuvura kwa ALD, ariko ubuvuzi bushobora gufasha gucunga ibimenyetso no kugabanya iterambere ry’indwara. Gusimbuza umugufi w’amasusho bishobora guhagarika iterambere ry’indwara y’ubwonko mu bana bamwe bafite ALD yo mu bwonko mu ntangiriro, nubwo bifite ibyago byinshi. Ubuvuzi bwa gene bugenda bugira icyizere mu bushakashatsi bw’ibizamini kandi bushobora kuba uburyo bw’ingenzi bwo kuvura mu gihe kizaza.

Q.3: ALD itandukaniye he n’izindi ndwara z’ubwonko zikomoka ku mpfuruka?

ALD irangwa n’uko igira ingaruka ku bwonko no ku mitsi ikora imisemburo kubera ikibazo cyo gutunganya ubwoko bumwe bw’amavuta. Bitandukanye n’izindi ndwara nyinshi z’ubwonko, igice cya ALD kijyanye n’imisemburo kivurwa neza hakoreshejwe imisemburo isubiza. Uburyo bwo kwanduza binyuze muri X na bwo butandukanya n’izindi ndwara nyinshi z’ubwonko zikomoka ku mpfuruka.

Q.4: Impinduka mu mirire zishobora gufasha mu kuvura ALD?

Nubwo amavuta ya Lorenzo yigeze gufatwa nk’ayafite akamaro, ubushakashatsi bwerekanye ingaruka nke ku bantu benshi barwaye ALD. Kuri ubu, nta mirire yihariye igaragaza ko igira ingaruka ku iterambere rya ALD. Ariko kandi, kugira imirire myiza ni ingenzi, cyane cyane niba ufite ikibazo cyo kurya cyangwa ufata imisemburo isubiza.

Q.5: Ni iki kiringo cy’ubuzima cy’umuntu urwaye ALD?

Igihe cyo kubaho gitandukanye cyane bitewe n’ubwoko bwa ALD ufite. Abantu barwaye indwara ya Addison gusa cyangwa AMN yoroheje bashobora kugira igihe cyo kubaho gisanzwe bafashijwe n’ubuvuzi bukwiye. Abafite AMN itera gahoro gahoro bashobora kugira igihe cyo kubaho kigabanutse gato ariko bakaba bashobora kubaho imyaka myinshi bafite ubuzima bwiza. ALD yo mu bwonko mu bwana ikunda gutera vuba, nubwo kuvugurura hakiri kare hakoreshejwe gutera amaraso mu mugozi w’inyuma bishobora kunoza cyane ibyavuye.