Ukuthi yini i-Adrenoleukodystrophy? Izimpawu, Izimbangela, & Ukwelashwa

I-Adrenoleukodystrophy (ALD) iyisimo esingavamile sezofuzo esithinta uhlelo lwezinzwa namathumbu e-adrenal. Lesi sifo esidluliselwa ngezofuzo sivela lapho umzimba wakho ungakwazi ukuqothula ngendlela efanele amafutha athile abizwa ngamafutha amade kakhulu, okubangela ukuba aqoqane futhi onakalise izingxenye ezibalulekile zomzimba wakho. Nakuba i-ALD ibathinta abantu ngezindlela ezahlukene, ukuqonda lesi simo kungakusiza ukuthi uqaphele izimpawu ngokushesha futhi uhlole izinketho zokwelapha ezingase zihambise ukwanda kwalo.

Ukuthi yini i-Adrenoleukodystrophy?

I-Adrenoleukodystrophy ibangelwa izinguquko ku-jini elibizwa nge-ABCD1, eliyisivumeli somzimba wakho ukuba usebenze ngamafutha athile. Uma le jini ingasebenzi kahle, izinto ezinamafutha ziqoqana ebuchosheni bakho, e-spinal cord, nasemathumbini e-adrenal.

Lesi simo siqamba igama layo ngezindawo ezithinteka kakhulu. I-“Adreno” ibhekisela emathumbini e-adrenal ahlala phezulu kwezinkimbinkimbi zakho, i-“leuko” isho into emhlophe ebuchosheni, futhi i-“dystrophy” ichaza ukubola okuvela ngokuhamba kwesikhathi.

I-ALD iyisifo esihambisana ne-X, okusho ukuthi i-jini ehambisanayo ihlala ku-chromosome ye-X. Le ndlela yokudluliselwa ifanekisa ukuthi kungani lesi simo sithinta amadoda kakhulu kunabesifazane, njengoba amadoda enesikrini esisodwa se-X kanti abesifazane banezi-2.

Ziyini izinhlobo ze-Adrenoleukodystrophy?

I-ALD iveza izinhlobo eziningi, ngayinye inezikhathi zayo nobunzima bayo. Uhlobo olungase ube nalo luhlala luxhomeke ebudaleni bakho lapho izimpawu ziqala ukubonakala khona nezingxenye zomzimba wakho ezithinteka kakhulu.

I-Childhood cerebral ALD iyinhlobo enzima kakhulu, iqala ngokuvamile phakathi kweminyaka engu-4 no-10. Lolu hlobo luya phambili ngokushesha futhi luthinta into emhlophe ebuchosheni, okuholela ezinkingeni ezinkulu zezinzwa. Abantwana abafana abanesimo esinjalo bangase baqale babe nempilo ephelele ngaphambi kokuba izimpawu ziqale.

I-Adrenomyeloneuropathy (AMN) ivame ukuqala ebuntwini, ngokuvamile eminyakeni engu-20 noma engu-30. Lolu hlobo luqhubeka kancane futhi luthinta ikakhulukazi i-spinal cord nezinzwa ezingaphandle. Abantu abaningi abane-AMN bangaphila impilo evamile iminyaka eminingi ngokuphathwa okuhle.

I-Addison-only disease ithinta nje amagciwane e-adrenal ngaphandle kokuthinta uhlelo lwezinzwa. Abantu abalolu hlobo bangase babe nokuntuleka kwamahomoni kodwa abazuze izimpawu zezinzwa ezibonakala kwezinye izinhlobo.

Abanye abantu bahlala bengabathwali abangenazimpawu, ikakhulukazi abesifazane, abangase bangazuze izimpawu ezibonakalayo kodwa bangadlulisela lesi simo kubantwana babo.

Ziyini izimpawu ze-Adrenoleukodystrophy?

Izimpawu ze-ALD zingase zihluke kakhulu kuye ngohlobo olukhona nokuthi uneminyaka emingaki lapho ziqala ukuvela. Ukuqaphela okusheshayo kwalezi zimpawu kungenza umehluko omkhulu ekutholeni ukunakekelwa nokwesekwa ngesikhathi.

E-childhood cerebral ALD, ungase uqale uqaphele ukushintsha ekuziphatheni noma ekuphumeleleni esikoleni. Lezi zimpawu zokuqala zingase zibe nzima futhi zingafaka:

• Ubunzima bokuhlala ugxile noma ukunaka esikoleni
• Ukushintsha kokubhala noma ukuxhumanisa
• Izinkinga zombono noma ukuzwa
• Ukukhula kokusebenza ngokweqile noma izinkinga zokuziphatha
• Ubunzima bokuqonda noma ukulandela imiyalo

Njengoba i-childhood cerebral ALD iqhubeka, izimpawu zezinzwa ezinzima ngokuvamile zivela. Lezi zingafaka ukubamba, ubunzima bokuginya, ukulahlekelwa inkulumo, nezinkinga zokunyakaza nokuqina.

I-Adult-onset AMN ivame ukuvela ngezimpawu ezahlukene ezivela kancane kancane ngokuhamba kwesikhathi. Ungase ube:

• Ukuqina nobuthakathaka ezinyaweni
• Ubunzima bokuhamba noma ukuhlala uqine
• Izinkinga zokulawula isitho sokuphuma noma isisu
• Ukungazizwa noma ukukhahlela ezandleni nasezinzweni
• Ukuntuleka kokusebenza kwezocansi

Izimpawu zokungasebenzi kahle kwe-adrenal zingase zivele kunoma iyiphi uhlobo lwe-ALD futhi zingase zibe yizimpawu zokuqala ozibona. Lezi zihlanganisa ukukhathala okuqhubekayo, ukulahlekelwa isisindo, ukumnyama kwesikhumba sakho, ukucindezeleka kwegazi okuphansi, nokufisa ukudla okunosawoti.

Abesifazane abaphethe i-ALD gene bangase bathuthukise izimpawu ezilula kamuva ekuphileni, ngokuvamile kuhilela ubunzima obuncane beenyawo noma ukushintsha okuncane kwezinzwa, nakuba abaningi bahlala bengenasimpawu nhlobo.

Yini ebangela i-Adrenoleukodystrophy?

I-ALD ibangelwa yizinguquko e-ABCD1 gene, enikeza imiyalo yokwenza iprotheni esiza ekuthuthukiseni amafutha acids kuya ezakhiweni ze-cellular ebizwa ngokuthi yi-peroxisomes. Uma le gene ingasebenzi kahle, umzimba wakho awukwazi ukuqeda amafutha acids amade kakhulu ngokuphumelelayo.

La mafutha acids awahlangana ezihlanganweni ezahlukene emzimbeni wakho, ikakhulukazi e-white matter yobuchopho nasezinso ze-adrenal. Cabanga ngayo njengesistimu yokubuyisela esaphukile - imikhiqizo yokuqothula okufanele ikhonjiswe futhi isuswe esikhundleni sokwakha nokulimaza.

Isimo siwela ngendlela ebizwa ngokuthi yi-X-linked recessive. Lokhu kusho ukuthi i-gene itholakala kwi-X chromosome, futhi njengoba amadoda enesinye i-X chromosome kuphela, kungenzeka kakhulu ukuthi athinteke uma ezuza i-gene eguqukile.

Abesifazane bane-X chromosomes ezimbili, ngakho-ke ngokuvamile badinga ukuguqulwa kokubili ukuze bathinteke kakhulu. Noma kunjalo, abesifazane abane-copy eyodwa eguqukile bangaba ngabaphethe futhi bangase bathuthukise izimpawu ezilula kamuva ekuphileni ngenxa yinqubo ebizwa ngokuthi yi-X-inactivation.

Ubungako nohlobo lwe-ALD kungahluka ngisho nasemhlabeni omnye, okubonisa ukuthi ezinye izici ze-genetic noma ze-environmental zingase zithinte indlela isimo esithuthuka futhi siqhubeke ngayo.

Nini okufanele ubheke udokotela nge-Adrenoleukodystrophy?

Kufanele ufuna ukunakekelwa kwezokwelapha uma ubona izimpawu zezinzwa eziqhubekayo noma izimpawu zokungasebenzi kahle kwe-adrenal, ikakhulu uma unemlando womndeni we-ALD. Ukulingwa kwasekuqaleni kungasiza ekutholeni isimo ngaphambi kokuthi siqhubeke kakhulu.

Kubantwana, xhumana nodokotela wabo uma ubona ukushintsha okungachazeki ekuziphatheni, ukwehla kokusebenza esikoleni, izinkinga zobona noma ukuzwa, noma ubunzima bokuxhumanisa. Lezi zimpawu zingabonakala zingaxhunyanisiwe ekuqaleni, kodwa ndawonye zingabonisa isimo sezifo zezinzwa esiqinile.

Abantu abadala kufanele babone udokotela ngokuthuthuka kobunqunu bezinyawo, ubunzima bokuhamba, izinkinga zokulawula isiphithiphithi noma izisu, noma izimpawu zokungasebenzi kahle kwe-adrenal njengokukhathala okungachazeki nokunciphisa isisindo. Ungalindi kuze kube yilapho izimpawu ziqala ukuba zimbi ngaphambi kokufuna usizo.

Uma uhlela ukuba nabantwana futhi unemlando womndeni we-ALD, ukwelulekwa ngokuzalwa kungakusiza ukuqonda ingozi yakho nezinketho zakho. Ukulingwa kukhona ukuthola ukuthi uthwala yini ukuguqulwa kwe-gene.

Abesifazane abaziwa ngokuthwala kufanele baxoxe ngezinketho zokulandelela nabahlinzeki babo bezempilo, ngisho noma bezizwa bephilile ngokuphelele, njengoba izimpawu zingase zivele kamuva ekuphileni.

Iyini ingozi yokuthola i-Adrenoleukodystrophy?

Ingozi eyinhloko yokuthola i-ALD ukuba nemlando womndeni wesimo, njengoba kuyisifo esidluliselwa ngezofu. Ukuqonda umlando wezokwelapha womndeni wakho kungakusiza ukuthola izingozi ezingaba khona ekuqaleni.

Ukuba owesilisa kukwandisa kakhulu ingozi yakho yokuthola izinhlobo ezinzima ze-ALD ngenxa yesakhiwo sokuthola ifu elihambisana ne-X. Amadoda athola ifu eliguquliwe cishe azothola uhlobo oluthile lalesimo, yize ububi nokuqala kungase kuhluke.

Ukuba nonina othatha ifu le-ALD kukubeka engozini, njengoba omama bangadlulisela lesi simo kubantwana babo. Umuntu ngamunye womntwana kaMama othatha ifu unethuba elingu-50% lokuthola ukuguqulwa kwe-gene.

Iminyaka ingathinta uhlobo lwe-ALD olungase lutholakale. I-Childhood cerebral ALD ivame ukuvela phakathi kweminyaka engu-4 no-10, kuyilapho i-AMN ivame ukuvela ebuntwaneni. Noma kunjalo, lezi zindlela azikho eqinisweni, futhi izimpawu ngezinye izikhathi zingase zivele ngaphandle kwalezi zikhathi eziqhelekile zonyaka.

Ukwahluka okungavamile kwe-genetic kungathinta ukuthi i-ALD ikuthinta kangakanani, nakuba abacwaningi besalokhu becwaninga ngalezi zinto. Izici ezingokwemvelo aziqondakali kahle, okwenza ilifa le-genetic libe yisici esibaluleke kakhulu lesingozi.

Ziyini izinhlungu ezingase zenzeke ngenxa ye-Adrenoleukodystrophy?

I-ALD ingabangela izinhlungu ezinkulu ezithinta izinhlelo eziningi zomzimba, nakuba izinhlungu ozongaba nazo zixhomeke ohlotsheni lwe-ALD olukhona nokuthi luqhubeka ngokushesha kangakanani. Ukuqonda lezi zinto kungakusiza ukuba ulungiselele ukunakekelwa okuphelele.

Izinhlungu zezinzwa zivame ukuba yingxenye ephambili enkulu kunazo zonke ye-ALD. Ku-childhood cerebral ALD, lezi zingafaka:

• Ukulahlekelwa okqhubekayo kwamandla okuqonda nokukhumbula
• Ukuhlushwa okutholakala kunzima ukulawula
• Ukulahlekelwa ukubona nokuzwa
• Ubunzima bokuginya, okungabangela izinkinga zokudla
• Ukulahlekelwa okuphelele kwamandla okuhamba nokuzimela

Lezi zinkinga ezinkulu zivame ukuvela ngokushesha ku-childhood cerebral ALD, ngokuvamile ezinyangeni ezimbalwa kuya eminyakeni embalwa, okwenza ukungenelela kwangoko kube yinto ebalulekile.

Ku-AMN, izinhlungu zivame ukuvela kancane kancane kodwa zingasithinta kakhulu izinga lokuphila kwakho. Ungase ube nobunzima bokuhamba obuqhubekayo, ekugcineni udinga izinto zokusiza ekuhambeni noma i-wheelchair. Ukungasebenzi kahle kwesisu nomthondo kungathinta imisebenzi yansuku zonke futhi kudinge ukuphathwa okuqhubekayo.

Ukwehluleka kwe-adrenal kuyinkinga enkulu engase ibe khona kunoma yiluphi uhlobo lwe-ALD. Ngaphandle kokwelashwa okuqondile kwe-hormone, lokhu kungabangela i-adrenal crisis eyingozi, ephawulwa yi-blood pressure ephansi kakhulu, ukuphelelwa amanzi, nokuthukuthela.

Kubalulekile futhi ukubheka izinhlupheko zengqondo nezempilo yomphakathi. Ukubhekana nesimo sezifo zezinzwa esiphuphumayo kungabangela ukucindezeleka, ukukhathazeka, nokuhlukaniswa komphakathi kokubili kubantu abagulayo nemindeni yabo. Lezi zinselele zomzwelo zingukuphendula okuvamile okufanele kunakekelwe futhi kusekelwe.

Ezimweni ezingavamile, abanye abantu abane-ALD bangathuthukisa izinhlupheko ezengeziwe njengoba izimpawu zezifo zengqondo noma izimpendulo ezivuvukalayo ebuchosheni, nakuba lokhu kungavamile kunomphumela oyinhloko wezinzwa nehomoni.

I-Adrenoleukodystrophy ihlonishwa kanjani?

Ukuxilongwa kwe-ALD kuvame ukuqala ngokubona izimpawu nokuqonda umlando wakho womndeni, okulandela ukuhlolwa kwegazi okuqondile nokufunda izithombe. Udokotela wakho cishe uzoqala ngomlando wezokwelapha oningiliziwe nokuhlolwa komzimba ukuhlola umsebenzi wezinzwa nokubheka izimpawu zezinkinga ze-adrenal.

Ivivinyo elibaluleke kakhulu lokuqala lilinganisa amafutha ama-fatty acid amade kakhulu egazini lakho. Amazinga aphezulu alawa ma-substances abonisa kakhulu i-ALD, njengoba umzimba wakho ungakwazi ukwaqeda ngokufanele uma i-gene ye-ABCD1 ingasebenzi kahle.

Ukuhlolwa kwe-genetic kungaqinisekisa ukuxilongwa ngokubona ukuguqulwa kwe-gene ye-ABCD1. Lo mvivinyo ubalulekile ngokukhethekile kubalandeli bomndeni abafuna ukwazi ukuthi bayaphatha i-gene, ngisho noma bengenawo ama-symptom okwamanje.

I-Brain MRI scans zisiza odokotela ukubona izinguquko e-white matter ezibonisa i-ALD. Lezi zithombe zingabonisa ubukhulu bokuhileleka kobuchopho futhi zisize ekuqondeni ukuthi yiluphi uhlobo lwe-ALD onayo. Iphethini yezinguquko kwi-MRI ingasiza futhi ekubikezeleni ukuthi isimo singathuthuka kanjani.

Ivivinyo lomsebenzi we-Adrenal lihlola amazinga ehomoni ukuze kunqunywe ukuthi ama-adrenal glands akho asebenza kahle. Lezi zihloko zingafaka ukuqapha i-cortisol, i-ACTH, nezinye izinhlobo zehomoni ezibonisa impilo ye-adrenal.

Izinye izivivinyo zingafaka izivivinyo zokuphequlula kwamandla ezinzwa ukuhlola umsebenzi wezinzwa ezingaphandle, ikakhulukazi uma unezimpawu ze-AMN. Udokotela wakho angase futhi akukhuthaze ukuhlolwa okuqondile njalo ukuqapha ukuqhubeka kwesimo ngokuhamba kwesikhathi.

Iyini ukwelashwa kwe-Adrenoleukodystrophy?

Ukwelashwa kwe-ALD kugxile ekuphatheni izimpawu, ukuthambisa ukuqhubeka uma kungenzeka, nokugcina ikhwalithi yokuphila. Nakuba kungekho ukwelashwa okuphelele okwamanje, izindlela eziningi zingakusiza ukuba uphile kangcono naleli simo futhi mhlawumbe uthambise ukuqhubeka kwalo.

Ukwelashwa kwe-hormone kubalulekile uma une-adrenal insufficiency. Ukuthatha i-cortisol engawenziwe nezinye izinhlobo ze-hormone ngezinye izikhathi kungasebenza kahle ekufakeni lokho amagciwane akho e-adrenal angakwazi ukukukhiqiza. Lokhu kwelashwa kuvame ukuphila konke kodwa kungathuthukisa kakhulu amandla akho, ukudla kwakho, nokuphumula kwakho konke.

Nge-cerebral ALD yabantwana, ukuhlinzwa kwe-hematopoietic stem cell (ukufakelwa kwamathambo) kungaba yindlela ekuqaleni. Lokhu kwelashwa kungase kuyeke ukwanda kwesifo sobuchopho, nakuba kunengozi enkulu futhi kudinga ukuhlolwa ngokucophelela ukuze kubonwe ukuthi ungumuntu ofanele.

I-Lorenzo's oil, ukuxuba kwamafutha athile, kwakukhathazwa ngokuqala ukuthi kuzosiza nge-ALD, kodwa ucwaningo lubonise izinzuzo ezilinganiselwe kubantu abaningi. Abanye odokotela bangase bakukhulume njengendlela yokugeleza, nakuba kungabhekwa njengokwelashwa okuyinhloko.

Ukwelashwa nge-gene kuyindlela entsha ebonisa ithemba ekuhlolweni kwezokwelapha. Le ndlela ihilela ukufaka ikhophi esebenzayo ye-ABCD1 gene ezicini zakho, okungenzeka kuvumele ukuba ziphathe amafutha ngokujwayelekile futhi.

Ukukhathalela okusekela kudlala indima ebalulekile ekuphatheni izimpawu ze-ALD. Lokhu kungafaka ukwelashwa komzimba ukuze kulondolozwe ukuhamba, ukwelashwa komsebenzi ukuze kulungiswe imisebenzi yansuku zonke, ukwelashwa kokukhuluma ngezinkinga zokuxhumana, nokusekelwa kokudla uma ukugwinya kuba nzima.

Imithi ingasiza ekulawuleni izimpawu ezithile njengezifo zesisu, ubunzima bemisipha, noma ubuhlungu. Ithimba lakho lezeMpilo lizokusebenza nawe ukuthola ukuxuba okulungile kokwelashwa kwesimo sakho.

Ukulawula kanjani i-Adrenoleukodystrophy ekhaya?

Ukulawula i-ALD ekhaya kuhilela ukwakha indawo yokusekela eguqukela ezidingweni ezishintshayo ngenkathi kugcinwa ukuzimela nokuthula okukhulu ngangokunokwenzeka. Indlela yakho izoqondana nezimpawu ozibhekana nazo nokuthi isimo siqhubeka kanjani.

Uma uthatha ukwelashwa kokufakwa kwamahomoni ngenxa yokungasebenzi kahle kwe-adrenal, ukuzinza kubalulekile. Thatha imithi yakho ngokuqondile njengoba kulotshiwe, futhi uhlale uthwala i-hydrocortisone yokuphuthumayo nawe. Funda ukuqaphela izimpawu zengcindezi ye-adrenal futhi wazi ukuthi nini kufanele usebenzise imithi yokuphuthumayo noma ufune ukunakekelwa kwezokwelapha ngokushesha.

Ukusebenza ngokomzimba ngaphakathi kwamandla akho kungasiza ekuqondiseni amandla nokukwazi ukuhamba. Sebenza nodokotela wezokwelapha ukuthuthukisa uhlelo lokuzivocavoca olufanele isimo sakho. Ngisho nemisebenzi ebushelelezi njengokwelula noma ukuzivocavoca emanzini kungaba usizo.

Ukuphepha ekhaya kuba kubaluleke kakhulu njengoba ukuhamba kushintsha. Cabanga ngokufaka amabhaa wokubamba emakamelweni okugeza, ukususa izinto ezingathinta, nokuqinisekisa ukukhanya okuhle ekhaya lakho lonke. Ochwepheshe bezokwelapha bangaphakamisa ukuguqulwa okuthile okungakusiza ekuhambeni kwemisebenzi yansuku zonke kalula.

Ukusekelwa kokudla kungadingeka uma ukugwinya kuba nzima. Sebenza nodokotela wezondlo ukuqinisekisa ukuthi uthola ukudla okwanele, futhi ufunde ngokuguqulwa kokubunjwa noma izindlela zokudla ezihlukile uma kudingeka. Ukugcina umzimba uthambile kubaluleke kakhulu uma une-adrenal insufficiency.

Ukusekelwa ngokomzwelo kubalulekile njengokunakekelwa komzimba. Xhumana namaqembu wokusekela, noma ngokomuntu siqu noma online, lapho ungabelana khona okuhlangenwe nakho nabanye abaqonda ukuthi uhamba ngani. Unganqikazi ukufuna ukwelulekwa uma uhlupheka ngezici zomzwelo zokuphila ne-ALD.

Gcina amarekhodi aphelele ezimpawu zakho, imithi, nanoma yiziphi izinguquko ozibona. Ulwazi lolu lusiza iqembu lakho lokunakekelwa kwezempilo ukwenza izinqumo ezisekelwe olwazini mayelana nokunakekelwa kwakho futhi lungaba yigugu ekuqapha ukuqhubeka kwesimo.

Kufanele ulungiselele kanjani ukubhekana nodokotela wakho?

Ukulungiselela kahle izikhathi zakho zokubhekana nodokotela kungakusiza ukwenza okuningi ngesikhathi sakho ndawonye futhi kuqinisekise ukuthi uthola ulwazi nokunakekelwa okudingayo. Qala ngokubhala phansi yonke imibuzo kanye nezinkathazo zakho ngaphambi kokuvakasha, ukuze ungakhohlwa lutho olubalulekile ngesikhathi sokubhekana.

Gcina idayari yezimpawu amasonto ambalwa ngaphambi kokubhekana kwakho, uqaphele noma yiziphi izinguquko esimweni sakho, izimpawu ezintsha, noma ukukhathazeka mayelana nokwelashwa kwakho kwamanje. Faka imininingwane mayelana nokuthi izimpawu zivela nini, zingakanani, nokuthi yini ebonakala ikusiza noma eziyenza zibe zimbi.

Letha uhlu oluphelele lwazo zonke izidakamizwa ozithathayo, kufaka phakathi imithamo, izithasiselo, nezinye izidakamizwa. Uma uthatha i-hydrocortisone yokuphuthuma, qiniseka ukuthi udokotela wakho uyazi nganoma yiziphi izehlakalo zakamuva lapho udinga ukuyisebenzisa.

Butha noma yimaphi amarekhodi ezempilo afanele, imiphumela yokuhlola, noma imibiko evela kwabanye abahlinzeki bezempilo obukewe kusukela ekubhekaneni kwakho kokugcina. Uma uthole izifundo zokwenza izithombe noma igazi elihlolwe kwenye indawo, letha amakhophi noma uqinisekise ukuthi udokotela wakho angafinyelela imiphumela.

Cabanga ukuletha ilungu lomndeni noma umngani ekubhekaneni, ikakhulukazi uma uxoxa ngezinqumo zokwelashwa eziyinkimbinkimbi noma uma izinkinga zokukhumbula noma ukugxila kwenza kube nzima ukugcina ulwazi. Bangakusiza ukuba ube ngumkhulumeli wakho futhi bakhumbule imininingwane ebalulekile ekuxoxweni.

Lungiselela imibuzo ethile mayelana nesimo sakho, njengokuthi singathuthuka kanjani, izimpawu ezintsha okufanele uzilinde, noma indlela ukwelashwa kwakho kwamanje okusebenza ngayo. Ungesabi ukucela ukuqondisa uma ungakuqondi okuthile udokotela wakho akucacisayo.

Iyini into ebaluleke kakhulu mayelana ne-Adrenoleukodystrophy?

Into ebaluleke kakhulu okumele uyiqonde nge-ALD ukuthi ngenkathi kuyisimo esibuhlungu sezofuzo, ukutholakala kwesikhathi esisheshayo nokuphathwa okuqondile kungathinta kakhulu ikhwalithi yokuphila kwakho futhi kungenzeka kunciphisa intuthuko. Isipiliyoni ngasinye somuntu nge-ALD sihlukile, futhi ukuba naleli simo akusho ukulahla ithemba lokuphila okunenjongo.

Ukwehluleka kwe-adrenal, okungase kwenzeke nanoma yiluphi uhlobo lwe-ALD, kuphatheka ngokuphelele ngokwelashwa kokufakelwa kwamahomoni. Ukuphatha le ndima yesimo ngokuphumelelayo kungakusiza uzizwe ukhulu kangcono futhi ugweme izinhlupheko ezinkulu.

Emindenini ethintekile yi-ALD, ukwelulekwa kwezofuzo nokuhlolwa kungakunikeza ulwazi oluyigugu lokucwaninga komndeni nokutholwa kwesikhathi esisheshayo kulabo abanye abangamalungu omndeni. Ulwazi mayelana nesimo sokuthwala lungasiza abesifazane benze izinqumo ezicacile mayelana nokulandelela impilo yabo.

Ucwaningo mayelana nokuphathwa okusha kwe-ALD luyaqhubeka luthuthuka, ngokwelashwa kwe-gene okubonisa ithemba elikhethekile ekuhlolweni kwesikhathi esisanda kwenzeka. Ukuxhumana nama-ALD treatment centers akhethekile kungakusiza ufinyelele ekuthuthukeni kwamuva nasekuhlolweni kwesikhathi esisanda kwenzeka.

Ukukwakha inethiwekhi eqinile yokusekela, kufaka phakathi abahlinzeki bezempilo abaqonda i-ALD, umndeni osekela nabangane, nokuthintana namanye imindeni ethintekile yisimo, kungenza umehluko omkhulu ekubhekaneni nezinselele ezinikezwa yi-ALD.

Imibuzo evame ukubuzwa mayelana ne-Adrenoleukodystrophy

Q.1: Ingabe abesifazane bangathuthukisa izimpawu ze-ALD?

Yebo, abesifazane abaphethe i-ALD gene bangathuthukisa izimpawu, nakuba ngokuvamile zibuthakathaka kunalokho amadoda akuhlangenwe nakho. Cishe amaphesenti angu-20 wabesifazane abaphethe i-gene bathuthukisa ezinye izimpawu, ngokuvamile ezihilela ukunqamuka okuncane kwemilenze noma ubunzima bokuhamba obuvela kamuva ekuphileni, ngokuvamile ngemuva kweminyaka engu-40. Lezi zimpawu zivame ukuqhubeka kancane kakhulu futhi azivami ukuba nzima njengengxaki zezinzwa ezibonwa kumadoda ane-ALD.

Q.2: Ingabe kukhona ukwelashwa kwe-ALD?

Okwamanje, ayikho indlela yokwelapha i-ALD, kodwa ukwelashwa kungasiza ekulawuleni izimpawu futhi kungenzeka ukuthi kucophe ukukhula. Ukuhlinzwa kwamathumbu amathambo kungamisa ukuqhubeka kwesifo sobuchopho kwabanye abantwana abanesifo se-ALD sobuchopho esiseqophelweni lokuqala, nakuba kunengozi enkulu. Ukwelashwa nge-gene kubonisa ithemba ekuhlolweni lwezokwelapha futhi kungaba yindlela yokwelapha ebalulekile esikhathini esizayo.

Q.3: I-ALD ihlukile kanjani kwezinye izimo zezinzwa eziyizofu?

I-ALD iyekhethekile ngoba ithinta bobabili uhlelo lwezinzwa nama-glands akhiqiza ama-hormone ngenxa yezinkinga zokucubungula izinhlobo ezithile zamafutha. Ngokungafani nezinye izimo zezinzwa, ingxenye ye-ALD ye-adrenal iyakwazi ukwelashwa ngokuphelele ngokwelashwa kwe-hormone. Iphethini yokudluliselwa kwe-X-linked iphinde iyenze ihluke kwezinye izifo zezinzwa eziyizofu.

Q.4: Ingabe ukushintsha ukudla kungasiza nge-ALD?

Nakuba i-Lorenzo's oil yayicatshangelwa ukuthi inenzuzo, ucwaningo lubonise imiphumela emincane kubantu abaningi abane-ALD. Okwamanje, ayikho idayithi ethile eboniswe ukuthi ithinta kakhulu ukuqhubeka kwe-ALD. Noma kunjalo, ukugcina ukudla okuhle okujwayelekile kubalulekile, ikakhulukazi uma unezinkinga zokugwinya noma uthatha ukwelashwa kwe-hormone.

Q.5: Yini isikhathi sokuphila somuntu one-ALD?

Isikhathi sokuphila sihluka kakhulu kuye ngohlobo lwe-ALD olukhona. Abantu abane-Addison-only disease noma i-AMN emaphakathi bangaba nokuphila okuvamile ngokwelashwa okufanele. Labo abane-AMN ehamba kancane bangaba nokuphila okuncane, kodwa bangaphila iminyaka eminingi ngekhwalithi yokuphila enhle. I-ALD yengqondo yabantwana ivame ukuqhubeka ngokushesha, nakuba ukungenelela kwasekuqaleni ngokufakelwa kwamathumbu amathambo kungathuthukisa kakhulu imiphumela.