Ukuthi yini i-Metachromatic Leukodystrophy? Izimpawu, Izimbangela, & Ukwelashwa

I-Metachromatic leukodystrophy (MLD) yisifo esingavamile sezofuzo esithinta uhlelo lwezinzwa ngokulimaza ukumbozwa okuvikelayo oluzungezile imicu yezinzwa. Lokhu kwenzeka uma umzimba wakho ungakwazi ukuqhekeza ngokufanele amafutha athile abizwa ngokuthi i-sulfatides, bese aqala ukubangela ukonakala kwendawo emhlophe ebuchosheni nasemgogodleni wakho womhlane.

Cabanga ngemicucwana yezinzwa njengezingcingo zamagetsi ezihlanganiswe ngokumbozwa. Ku-MLD, lo mbobozi wokuvimbela uqhekeka kancane kancane, okwenza kube nzima kuhlelo lwakho lwezinzwa ukuthumela imiyalezo kulo lonke umzimba wakho. Nakuba lokhu kuzwakala kukhulu, ukuqonda i-MLD kungakusiza wena noma abathandekayo bakho ukuzulazula lesi simo ngokusekelwa komtholampilo okufanele nokunakekelwa.

Yini i-Metachromatic Leukodystrophy?

I-Metachromatic leukodystrophy iyingxenye yamacala okuthiwa yi-leukodystrophies, eqondiswe ngqo endaweni emhlophe yobuchopho bakho. Igama livela endleleni ithishu ethintekile ebonakala ngayo ngaphansi komkhiqizo - ibonisa ama-deposits angavamile amahlaza-nsundu esikhundleni sombala omhlophe ovamile.

Lesi simo siwusifa, okusho ukuthi sidluliselwa kubazali kubantwana ngezofuzo. I-MLD ivela uma uzuza amakhophi amabili e-gene ephosakele evame ukusiza ekwenzeni i-enzyme ebizwa ngokuthi i-arylsulfatase A. Ngaphandle kwama-enzyme anele, izinto ezilimazayo ziqala ukuqoqana ohlelweni lwakho lwezinzwa ngokuhamba kwesikhathi.

Lesi sifo sithinta abantu ngezindlela ezihlukene kuye ngokuthi izimpawu zivela nini. Abanye abantwana babonisa izimpawu eminyakeni yabo embalwa yokuqala yokuphila, kanti abanye bangase bangaziveli izimpawu kuze kube yilapho sekukhulu.

Ziyini Izinhlobo ze-Metachromatic Leukodystrophy?

I-MLD ihlelwe ngezinhlobo ezintathu eziyinhloko kuye ngokuthi izimpawu ziqala nini. Ukuqonda lezi zinhlobo kusiza odokotela ukuba banikeze ukunakekelwa okuqondiswe ngqo futhi kusiza imindeni ukwazi ukuthi yini okulindelekile.

I-Late infantile MLD yiyona evamile futhi eqinile. Izimpawu ngokuvamile ziqala phakathi nezinyanga eziyi-6 no-2 ubudala. Abantwana bangase balahlekelwe amakhono asebekwazile, njengokuhamba noma ukukhuluma.

I-Juvenile MLD ngokuvamile iqala phakathi kweminyaka eyi-3 no-16. Lesi simo siqhubeka kancane kunesihlobo esincane. Abantwana bangase bahlupheke ekusebenzeni esikoleni, ukushintsha kwesimo, noma izinkinga zokuxhumanisa ngaphambi kokuthi izimpawu ezicacile zivele.

I-Adult MLD ingaqala noma nini ngemuva kweminyaka eyi-16, ngezinye izikhathi ingabonakali kuze kube yilapho umuntu eseminyakeni yakhe engama-30, 40, noma ngisho nangaphezulu. Lesi simo ngokuvamile siqhubeka kancane futhi ekuqaleni singase sibukeke njengezimo zengqondo noma ezinye izifo zezinzwa.

Ziyini Izimpawu ze-Metachromatic Leukodystrophy?

Izimpawu ze-MLD zivela kancane kancane njengoba ukumbozwa okuvikelayo oluzungezile imicu yezinzwa kuqhekeka. Izimpawu ezithile nesikhathi sazo kuncike kakhulu ekutheni umuntu unayo luphi uhlobo lwe-MLD, kodwa ngokuvamile zithinta ukunyakaza, ukucabanga, nokuziphatha.

Emazingeni okuqala, ungase uqaphele ukushintsha okuncane okungase kudideke kalula nezinye izimo. Ake sibheke izimpawu ezivamile ezigabeni ezahlukene zobudala:

• Ubunzima bokuhamba noma ukuwa njalo
• Ubuthakathaka bemisipha nokuqina
• Izinkinga zokukhuluma noma ukulahleka kwamakhono olimi
• Ukushintsha kwesimo noma ubuntu
• Izinkinga zokuxhumanisa nokuqina
• Ubunzima bokuginya
• Izinkinga zobumhlophe noma ukuzwa
• Ukuhlushwa (ezinye izikhathi)
• Ubunzima bokufunda noma ukwehla kokusebenza esikoleni
• Ukuzamazama noma ukunyakaza okungakwazi ukulawulwa

Kubantwana abancane nabantwana, abazali ngokuvamile baqaphela ukuthi umntwana wabo uyeka ukuhlangabezana nezindinganiso zokuthuthuka noma uqala ukulahlekelwa amakhono asebekwazile. Lokhu kubuyela emuva kungaba buhlungu emindenini, kodwa ukuqaphela okusheshayo kusiza ukuqinisekisa ukusekelwa komtholampilo okufanele.

Abantu abadala abane-MLD bangase babe nezimpawu ezincane ekuqaleni, njengokushintsha kwesimo, ukucindezeleka, noma izinkinga zokucabanga nokukhumbula. Lezi zimpawu ngezinye izikhathi zingase ziphuthelwe njengezimo zempilo yengqondo, kungakho kubalulekile ukuhlolwa komtholampilo okufanele.

Yini ebangela i-Metachromatic Leukodystrophy?

I-MLD ibangelwa ukuguqulwa kwezofuzo okulawula ukukhiqizwa kwama-enzyme abalulekile emzimbeni wakho. Imbangela evamile ihilela i-ARSA gene, enikeza imiyalo yokwenza i-enzyme arylsulfatase A.

Uma le gene ingasebenzi kahle, umzimba wakho awukwazi ukukhiqiza i-enzyme esebenzayo eyanele ukuqhekeza i-sulfatides - uhlobo lwamafutha olutholakala e-nerve tissue. Lezi sulfatides ziqala ukuqoqana eziceleni kulo lonke uhlelo lwakho lwezinzwa, ikakhulukazi endaweni emhlophe yobuchopho bakho nasemgogodleni womhlane.

Ezimweni ezingavamile, i-MLD ingabangelwa izinkinga kwenye i-gene ebizwa ngokuthi yi-PSAP, esiza i-arylsulfatase A enzyme ukuba isebenze kahle. Kungakhathaliseki ukuthi iyiphi i-gene ethintekile, umphumela uyafana - ukuqoqana kwezinto ezilimazayo ezilimaza uhlelo lwakho lwezinzwa ngokuhamba kwesikhathi.

Lokhu odokotela abakubiza ngokuthi isimo esingavamile se-autosomal recessive, okusho ukuthi udinga ukudluliselwa ikhophi eliphosakele le-gene kumzali ngamunye ukuze uthuthukise i-MLD. Uma uzuza ikhophi elilodwa eliphosakele, uzobe ungumthwali kodwa ngeke uthuthukise lesi sifo.

Nini Okufanele Ubone Udokotela nge-Metachromatic Leukodystrophy?

Kufanele ufunesekelwe ukunakekelwa komtholampilo uma uqaphela noma yikuphi ukushintsha okukhathazayo ekunyakazeni, ukuziphatheni, noma amakhono okuqonda, ikakhulukazi uma lokhu kushintsha kubonakala kuya kubi ngokuhamba kwesikhathi. Ukuhlolwa okusheshayo kungenza umehluko omkhulu ekulawuleni izimpawu nokuhlela ukunakekelwa okufanele.

Kubantwana, xhumana nodokotela wakho wezingane uma umntwana wakho eya ekuhlangabezaneni nezindinganiso zokuthuthuka noma uqala ukulahlekelwa amakhono asebekwazile. Lokhu kungase kuhlanganise ubunzima bokuhamba, ukushintsha ekukhulumeni, noma izindlela zokuziphatha ezingavamile ezivela kancane kancane.

Abantu abadala kufanele babone udokotela uma behlushwa ukushintsha kwesimo okungachazeki, izinkinga zokukhumbula, ubunzima bokuhambisana, noma ubuthakathaka bemisipha obuya kubi ngokuhamba kwesikhathi. Lezi zimpawu zingaba nezizathu eziningi, ngakho ukuhlolwa komtholampilo okufanele kubalulekile ekutholeni ukuxilongwa okuchanehile.

Uma i-MLD isebenza emndenini wakho, ukwelulekwa kwezofuzo kungakusiza ukuqonda ingozi yakho nezinketho zakho, kungakhathaliseki ukuthi uhlela ukuba nabantwana noma ufuna ukuqonda impilo yakho kangcono. Abantu abaningi bathola lolu lwazi lusiza ekwenzeni izinqumo ezicacile ngekusasa labo.

Ziyini Izici Zengozi ze-Metachromatic Leukodystrophy?

Isici esiyinhloko sokungozela i-MLD ukuba nabazali abathwala bobabili ukuguqulwa kwezofuzo ezihlobene nalesi simo. Njengoba i-MLD ilandela iphethini yokudluliselwa kwe-autosomal recessive, izindlela ezithile zomlando womndeni zingabonisa ingozi eyanda.

Nawa ama-risk factors ayinhloko okufanele uwaqaphele:

• Ukuba nabazali abathwala bobabili ukuguqulwa kwezofuzo ze-MLD
• Ukuzalwa kubazali abahlobene (consanguinity)
• Ukuba nomfowethu noma udadewabo onale MLD
• Ukuba yingxenye yezinye izigaba zabantu lapho amanani abathwali be-MLD aphezulu khona
• Umlando womndeni wezinkinga zezinzwa ezingachazeki kubantwana

Kubalulekile ukuqonda ukuthi ukuba umthwali akusho ukuthi uzokuthuthukisa i-MLD. Abathwali bane-copy eyodwa evamile ne-copy elilodwa eliphosakele le-gene, okuvamile kwanele ukuvimbela lesi sifo. Kodwa-ke, uma abathwali ababili beba nabantwana ndawonye, umntwana ngamunye unethuba elingu-25% lokuzuza i-MLD.

Ezinye izigaba zabantu zinamanani aphezulu kancane abathwali ngenxa yezici zezofuzo, kodwa i-MLD ingase ivela kunoma yiliphi iqembu labantu. Ukwelulekwa kwezofuzo kungakusiza ukuhlola ingozi yakho siqu ngokususelwa emlandweni womndeni wakho nangemuva kwakho.

Ziyini Izingozi Ezingase Zivele ze-Metachromatic Leukodystrophy?

I-MLD yisimo esiqhubekayo, okusho ukuthi izingozi ziqala ukuvela futhi zibe zimbi ngokuhamba kwesikhathi njengoba ithishu yezinzwa eyongeziwe ilimazwa. Ukuqonda lezi zingozi ezingase zivele kusiza imindeni ukuba zilungiselele futhi isebenze namaqembu ezempilo ukulawula ngokuphumelelayo.

Izingozi ongahlangana nazo zincike ekutheni isimo siqhubeke kangakanani namaphethini ohlelo lwezinzwa athinteka kakhulu:

• Ukulahleka okuphelele kokunyakaza nokuthola i-wheelchair noma ukulala embhedeni
• Ubunzima obukhulu bokuginya, okudinga ama-feeding tubes
• Izinkinga zokuphefumula ngenxa yemisipha yephefumulo ebuthakathaka
• Ukutheleleka njalo, ikakhulukazi i-pneumonia
• Ukwehla okukhulu kobuchopho nokulahleka kwamakhono okuxhumana
• Ukuhlushwa okungase kube nzima ukulawula
• Ukulahleka kobumhlophe nokuzwa
• Ukuqina okukhulu kwemisipha ne-contractures
• Ubuhlungu obuvela e-muscle spasms noma izinkinga zokubeka
• Izinselele zomzwelo nokuziphatha

Nakuba lo luhlu lungase lubonakale lukhulu, kubalulekile ukukhumbula ukuthi akuwona wonke umuntu onale MLD ozobhekana nazo zonke lezi zingozi. Uhlobo lwabantu abadala lwe-MLD, ikakhulukazi, luqala ukuqhubeka kancane kakhulu, futhi abantu abaningi bagcina ukusebenza okukhulu iminyaka eminingi ngemuva kokuxilongwa.

Ukukhathalela komtholampilo wanamuhla kungasiza ekulawuleni eziningi zalezi zingozi ngokuphumelelayo. I-Physical therapy, imithi, namadivayisi asekelayo angathuthukisa ikhwalithi yokuphila futhi asize ekuqondeni ukusebenza isikhathi eside ngangokunokwenzeka.

I-Metachromatic Leukodystrophy Ixilongwa Kanjani?

Ukuthola i-MLD kuhilela izinhlobo eziningi zokuhlola ngoba izimpawu zingase zihlangane nezinye izimo zezinzwa. Udokotela wakho uzoqala ngomlando wezokwelapha onemininingwane nokuhlolwa komzimba, egxila ekusebenzeni kwezinzwa nomlando womndeni.

Ivivinyo eliqinisekisayo kakhulu lilinganisa umsebenzi we-arylsulfatase A enzyme egazini lakho noma kwezinye izicubu zomzimba. Abantu abane-MLD banamanani aphansi kakhulu ale enzyme, okusiza ekuqinisekiseni ukuxilongwa uma kuhlanganiswa nemiphumela yokuhlola.

Izifundo zokubuka izithombe zobuchopho, ikakhulukazi i-MRI scans, zibonisa izindlela ezivamile zokonakala kwe-white matter ezivamile ku-MLD. Lezi scans zingaveza ubukhulu besifo futhi zisize odokotela ukuba balandelele ukuqhubeka kwalo ngokuhamba kwesikhathi.

Ukuhlolwa kwezofuzo kungabonisa ukuguqulwa okuthile okubangela i-MLD emndenini wakho. Lolu lwazi lubalulekile hhayi kuphela ekuqinisekiseni ukuxilongwa kodwa futhi ekuhleleni komndeni nasekuqondeni ukuthi yini okulindelekile njengoba isimo siqhubeka.

Ivivinyo elengeziwe lingase lihlanganise izifundo zokuphetha kwezinzwa ukuhlola ukuthi izingcingo zakho zisebenza kahle kangakanani, futhi ngezinye izikhathi isampula encane yethishu yezinzwa ingase ihlolwe ngaphansi komkhiqizo ukuze ibuke ama-sulfatide deposits avamile.

Yini Ukwelashwa kwe-Metachromatic Leukodystrophy?

Okwamanje, ayikho impumuzo ye-MLD, kodwa izindlela eziningi zokwelapha zingasiza ekulawuleni izimpawu futhi zinciphisa ukuqhubeka kwesifo. Uhlelo lokwelapha oluhle kakhulu kuncike ekutheni uhlobo lwe-MLD, ukuthi luqhubeke kangakanani, nezimo zomuntu.

Kubantu abasemazingeni okuqala e-MLD, ikakhulukazi abantwana, ukutshalwa kwe-stem cell (okubizwa nangokuthi ukutshalwa kwe-bone marrow) kungaba yisinqumo. Le nqubo inganikeza izicubu ezempilo ezikhiqiza i-enzyme eyalahlekile, okungenzeka kunciphisa noma kuyeke ukukhula kwesifo.

I-Gene therapy iyindlela yokwelapha entsha ebonisa ithemba ekuhlolweni kwezokwelapha. Le ndlela ihlose ukuletha amakhophi asebenza kahle e-gene ethintekile ngqo ohlelweni lwezinzwa, ivumela izicubu ukuba zikhiqize i-enzyme ezidingayo.

Ukukhathalela okusekela kudlala indima ebalulekile ekulawuleni i-MLD. Lokhu kuhlanganisa i-physical therapy ukuze kugcinwe ukunyakaza futhi kuvinjwe i-contractures, i-speech therapy ukuze kusizwe ngezinkinga zokuxhumana, ne-occupational therapy ukuze kugcinwe amakhono okuphila kwansuku zonke isikhathi eside ngangokunokwenzeka.

Imithi ingasiza ekulawuleni izimpawu ezithile njengokuhlushwa, ukungakwazi ukulawula imisipha, noma ubuhlungu. Iqembu lakho lezokunakekelwa lezokwelapha lizohlangana nawe ukuze lithole ukuxuba okulungile kwezindlela zokwelapha ukuze ugcine wena noma othandekayo wakho ukhululekile futhi usebenza ngangokunokwenzeka.

Ukuthi Ungazinakekela Kanjani Ekhaya Ngesikhathi Se-Metachromatic Leukodystrophy?

Ukukhathalela ekhaya komuntu onale MLD kugxile ekuqondeni ukududuzeka, ukuphepha, nekwalithi yokuphila ngenkathi kuhlanganiswa nezidingo ezishintshayo ngokuhamba kwesikhathi. Ukudala indawo yokusekela kungenza umehluko omkhulu ekuphileni kwansuku zonke kokubili iziguli nemindeni.

Ukwenza izinguquko zokuphepha endlini kuya kubaluleka kakhulu njengoba ukunyakaza nokuhambisana kuya kubi. Lokhu kungase kuhlanganise ukufaka ama-grab bars, ukususa izingozi zokuwa, ukusebenzisa ama-mats angagqwali, nokuqinisekisa ukukhanya okuhle kulo lonke ikhaya.

Ukugcina isikhathi esivamile kungasiza ekunikezeni isimiso nokuzinza, ikakhulu kubantwana abane-MLD. Lokhu kuhlanganisa izikhathi zokudla eziqondile, izikhathi zokuphumula, nokuzivocavoca okuthambile noma ukwelula njengoba kunconywe yiqembu lakho lezokunakekelwa lezokwelapha.

Ukusekelwa kokudla kungase kudingeke njengoba ubunzima bokuginya bukhula. Sebenza nodokotela wezondlo ukuze uqinisekise ukudla okufanele ngenkathi ulungisa ukunambitheka kokudla nokuhlanganiswa kwakho njengoba kudingeka. Abanye abantu ekugcineni badinga ama-feeding tubes ukuze bahlale bephephile.

Ungakhohlwa ngezidingo zomzwelo nezokuxhumana zabo bonke emndenini. Ukugcina ukuxhumana nabangane nomndeni omkhulu, ukulandela imisebenzi yokuzilibazisa eguquliwe, nokufuna ukwelulekwa kungasiza ekuqondeni ikhwalithi yokuphila ngalesi sihambi esinzima.

Kufanele Uzilungiselele Kanjani Ukuya Edokotela?

Ukulungiselela kahle ukuya ekuhlanganyeleni kwezokwelapha kusiza ekuqinisekiseni ukuthi uthola okuningi ngesikhathi sakho nabaphakeli bezempilo. Lokhu kubaluleke kakhulu ngesimo esiyinkimbinkimbi njenge-MLD, lapho ochwepheshe abaningi bengase bahileleke ekunakekeleni.

Ngaphambi kokubhukha kwakho, bhala zonke izimpawu ozibonile, kuhlanganise nokuthi zaqala nini nokuthi zishintshe kanjani ngokuhamba kwesikhathi. Yiba uchwepheshe ngangokunokwenzeka ngokushintsha kokusebenza, njengobunzima ngemisebenzi ethile noma ukushintsha kwesimo noma ubuntu.

Letha uhlu oluphelele lwazo zonke imithi, izithasiselo, nezindlela zokwelapha ezisetshenziswayo njengamanje. Faka imithamo nanoma yiziphi izingozi ozibonile. Letha futhi noma yimiphi imiphumela yokuhlola yakamuva noma amarekhodi ezokwelapha angase ahambisane.

Lungiselela uhlu lwemibuzo ofuna ukuyibuza. Lezi zingase zihlanganise imibuzo mayelana nokulawulwa kwezimpawu, izinketho zokwelapha, ukuthi yini okulindelekile esikhathini esizayo, noma izinsiza zokusekela nokunakekelwa.

Cabanga ngokuletha ilungu lomndeni noma umngani ukuze akusize ukukhumbula ulwazi oluxoxwe ngesikhathi sokubhukha. Ukuya ekuhlanganyeleni kwezokwelapha kungase kube nzima, futhi ukuba nezinye izindlebe kungaba yigugu ekuqondeni ulwazi olukhulu.

I-Metachromatic Leukodystrophy Ingavikeleka Kanjani?

Njengoba i-MLD iyisimo sezofuzo, ukuvimbela okuvamile akunakwenzeka uma usuzuze ukuguqulwa kwezofuzo. Kodwa-ke, kunezinyathelo ezibalulekile imindeni engase izithathe ukuze yenze izinqumo ezicacile futhi ivinjele ukudlulisela lesi simo ezizukulwaneni ezizayo.

Ukwelulekwa kwezofuzo ngaphambi kokukhulelwa kungasiza izibhangqwana ukuqonda ingozi yazo yokuba nomntwana onale MLD. Uma bobabili abazali bangabathwali, ukukhulelwa ngakunye kunethuba elingu-25% lokuba nomntwana onale MLD.

Ukuhlolwa kokukhulelwa kukhona emindenini eyaziwayo ukuthi isengozini ye-MLD. Lokhu kungase kuhlanganise ukuhlolwa ngesikhathi sokukhulelwa noma ukuhlolwa kwezofuzo kokukhulelwa kwangaphambi kokufakwa kwesigaba kubantu abasebenzisa i-in vitro fertilization. Lezi zinketho zivumela imindeni ukuba zenze izinqumo ezicacile mayelana nokukhulelwa kwazo.

Ukuhlolwa komndeni kungabonisa amanye amalungu omndeni angase abe ngabathwali, okuyolwazi oluyigugu ngezinqumo zabo zokuhlela umndeni. Abantu abaningi bathola induduzo ekuqondeni isimo sabo sokubathwala, kungakhathaliseki ukuthi sihle noma sibi.

Nakuba singakwazi ukuvimbela i-MLD kumuntu osezuze ukuguqulwa kwezofuzo, ukuxilongwa okusheshayo nokungenelela kungase kunciphisa ukuqhubeka kwesifo futhi kuthuthukise ikhwalithi yokuphila, ikakhulukazi ngezindlela zokwelapha ezintsha njenge-gene therapy nokutshalwa kwe-stem cell.

Yini Okubalulekile Mayelana ne-Metachromatic Leukodystrophy?

I-Metachromatic leukodystrophy yisimo sezofuzo esinzima esithinta uhlelo lwezinzwa, kodwa ukuyiqonda kunika amandla imindeni ukuba yenze izinqumo ezicacile mayelana nokunakekelwa nokwelashwa. Nakuba i-MLD iqhubeka futhi okwamanje ayinayo impumuzo, ukuqhubeka kwezokwelapha kunikeza ithemba elisha ngezindlela zokwelapha njenge-gene therapy nokutshalwa kwe-stem cell.

Into ebaluleke kakhulu okumele uyikhumbule ukuthi awuwedwa kule ndlela. Ukuxilongwa okusheshayo, ukunakekelwa komtholampilo oluphelele, namasiko asekelayo angenza umehluko omkhulu ekulawuleni i-MLD nasekugcineni ikhwalithi yokuphila.

Isipiliyoni somuntu ngamunye se-MLD sihlukile, futhi isivinini sokuqhubeka singase sihluke kakhulu, ikakhulukazi phakathi kwezinhlobo ezahlukene. Ukusebenza eduze neqembu lezokunakekelwa lezokwelapha elinosipiliyoni ekuwelapheni i-MLD kuqinisekisa ukuthi uzoba nethuba lokufinyelela ezindleleni zokwelapha zanamuhla kakhulu nezinketho zokunakekelwa okusekela.

Ucwaningo lwe-MLD luqhubeka luqhubeka ngokushesha, ngezindlela zokwelapha eziningi ezithembisayo ekuthuthukisweni. Ukuxhumana nezinhlangano ze-MLD nama-research centers kungakugcina unolwazi mayelana nezinketho ezintsha nezifundo zezokwelapha ezingase zibe usizo.

Imibuzo Evamile Mayelana ne-Metachromatic Leukodystrophy

Ingabe i-metachromatic leukodystrophy ibhubhisayo?

I-MLD yisimo esiqhubekayo esingase sibe nokulinganiselwa kokuphila, ikakhulukazi uhlobo lwabantwana. Kodwa-ke, isikhathi sihluke kakhulu phakathi kwabantu. Uhlobo lwabantu abadala ngokuvamile luqhubeka kancane kakhulu, futhi abanye abantu baphila iminyaka eminingi ngemuva kokuxilongwa. Ukungenelela okusheshayo nokunakekelwa okusekela kungasiza ekuthuthukiseni kokubili ikhwalithi nobude bokuphila.

Ingabe i-metachromatic leukodystrophy ingatholakala ngaphambi kokuzalwa?

Yebo, ukuhlolwa kokukhulelwa kukhona emindenini eyaziwayo ukuthi isengozini ye-MLD. Lokhu kungenziwa nge-amniocentesis noma i-chorionic villus sampling ngesikhathi sokukhulelwa. Kubantu abasebenzisa i-IVF, ukuhlolwa kwezofuzo kwangaphambi kokufakwa kwesigaba kungahlola ama-embryos ngaphambi kokufakwa. Ukwelulekwa kwezofuzo kungasiza imindeni ukuqonda lezi zinketho.

Ivamile kangakanani i-metachromatic leukodystrophy?

I-MLD ibhekwa njengesifo esingavamile, esithinta cishe umuntu oyi-1 ku-40,000 kuya ku-1 ku-160,000 ekuzalweni emhlabeni jikelele. Isimo sivela kuzo zonke izigaba zabantu, nakuba amanani abathwali angase aphakeme kancane kwezinye izigaba zabantu. Naphezu kokuba yingavamile, ucwaningo namanethiwekhi okusekela akhona ukusiza imindeni ethintekile.

Uyini umehluko phakathi kwe-MLD nezinye i-leukodystrophies?

Nakuba zonke i-leukodystrophies zithinta indawo emhlophe yobuchopho, uhlobo ngalunye lubangelwa ukuguqulwa kwezofuzo ezahlukene nokuntuleka kwama-enzyme. I-MLD ikakhulukazi ihilela izinkinga zokuqhekeza i-sulfatides ngenxa yokuntuleka kwe-arylsulfatase A. Ezinye i-leukodystrophies, njenge-adrenoleukodystrophy noma i-Krabbe disease, zihilela ama-enzyme nezinto ezahlukene, okuholela ezindleleni ezahlukene zezimpawu nokuqhubeka.

Ingabe kukhona izindlela zokwelapha ezintsha ezithembisayo ze-MLD ezifundwa?

Yebo, izindlela zokwelapha eziningi ezithokozisayo zifundwa. Izivivinyo ze-gene therapy zibonisa imiphumela ethembisayo, ikakhulukazi ezifundweni zesikhathi eside. I-Enzyme replacement therapy ne-substrate reduction therapy nazo zifundwa. Ngaphezu kwalokho, izindlela ezithuthukisiwe zokutshalwa kwe-stem cell nezinye izindlela zokunakekelwa okusekela ziqhubeka zithuthuka. Izivivinyo zezokwelapha ziqhubeka, futhi imindeni kufanele ixoxe lezi zinketho neqembu layo lezokunakekelwa lezokwelapha.