Leukodystrophy Metachromatic

I-metachromatic leukodystrophy yisifo esingavamile esidluliselwa ezizukulwaneni (esifuywayo) esenza izinto ezinemafutha (amafutha) ziqoqane ezicelleni, ikakhulu ebuchosheni, e-spinal cord nasezinzwa ezingaphandle. Lokhu kuqoqana kubangelwa ukushoda kwesenzakalo esisiza ekuqhekekeni kwamafutha okuthiwa yi-sulfatides. Ubuchopho nesistimu yezinzwa kuya kuhluleka kancane kancane ngoba into ehlanganisa futhi ivikele izicellu zezinzwa (i-myelin) yonakele.

Kunezinhlobo ezintathu ze-metachromatic leukodystrophy, ezihilela izigaba ezahlukene zokukhula: uhlobo lwengane encane, uhlobo lwentsha nohlobo lwabantu abadala. Izimpawu zingase zihluke. Uhlobo lwengane encane luyindlela evamile futhi luqhubeka ngokushesha kunamanye amafomu.

Ayikho indlela yokwelapha i-metachromatic leukodystrophy okwamanje. Kuye ngohlobo nobudala bokuqala, ukuhlonza nokuphatha kwasekuqaleni kungasiza ekulawuleni ezinye izimpawu nokubambezela ukuqhubeka kwalesi sifo.

Ukulimala kwe-myelin evikela izicubu zezinzwa kubangela ukwanda kokulima kokusebenza kwengqondo nesistimu yezinzwa, okuhlanganisa: Ukulahlekelwa ikhono lokubona imizwa, njengokuthinta, ubuhlungu, ubushushu nomculo Ukulahlekelwa amakhono okucabanga, ukucabanga nokukhumbula Ukulahlekelwa amakhono omota, njengokuhamba, ukuhamba, ukukhuluma nokugwinya Izicubu eziqine, ukusebenza okubi kwemisipha nokuqina Ukulahlekelwa ukusebenza kwesistimu yomchamo Izinkinga ze-gallbladder Ubuthakathaka Ukulahlekelwa ukuzwa Ukuhlushwa yizigameko Izinkinga zomzwelo nokuziphatha, okuhlanganisa imizwelo engathembeki nokusebenzisa izidakamizwa Wonke umkhakha we-metachromatic leukodystrophy uqala ebudeni obuhlukile futhi ungaba nezimpawu zokuqala ezahlukene nezinga lokukhula: Fomu lesikhathi esingumntwana. Lona yilona fomu elivamile kakhulu le-metachromatic leukodystrophy, eliqala cishe eminyakeni emi-2 ubudala noma ngaphansi. Ukulahlekelwa okukhulu kokukhuluma nokusebenza kwemisipha kwenzeka ngokushesha. Abantwana abanesimo esinjalo ngokuvamile abaphili ngaphezu kobutshana. Fomu lwentsha. Lona yilona fomu lesibili elivamile futhi liqala kubantwana abaneminyaka engu-3 kuya kwengu-16 ubudala. Izimpawu zokuqala yizinkinga zokuziphatha nokuqonda nokuncipha kokusebenza esikoleni. Ukulahlekelwa ikhono lokuhamba kungase kwenzeke. Nakuba ifomu lentsha lingakhula ngokushesha njengofomu lesikhathi esingumntwana, ukuphila ngokuvamile kungaphansi kweminyaka engu-20 ngemuva kokuba izimpawu ziqale. Fomu labantu abadala. Lolu fomu aluvamile futhi ngokuvamile luqala ngemuva kweminyaka engu-16. Izimpawu zikhula kancane futhi zingase ziqale ngezinkinga zokuziphatha neze-psychiatric, ukusebenzisa kabi izidakamizwa notshwala, nezinkinga zesikole nomsebenzi. Izimpawu ze-psychotic njengokukhohlisa nokuzwa izinto ezingelona iqiniso kungase kwenzeke. Indlela yalo fomu iyahlukahluka, ngezikhathi zezimpawu ezinzima nezikhathi zokuncipha okusheshayo kokusebenza. Abantu abadala bangaphila amashumi eminyaka ngemuva kwezimpawu zokuqala. Xhumana nodokotela wakho uma ubona noma yiziphi izimpawu ezibalwe ngenhla noma uma ukhathazekile ngezimpawu zakho siqu.

Xoxa nodokotela wakho uma ubona noma iyiphi imiqondiso ehlongozwayo ngenhla noma uma ukhathazekile ngezimpawu zakho siqu noma izimpawu.

I-metachromatic leukodystrophy yisifo esitholakala ezizukulwaneni esibangelwa yi-gene engavamile (enguqondakali). Lesi simo siyadluliselwa ngendlela ebizwa ngokuthi autosomal recessive. I-gene engavamile ebizwa ngokuthi recessive itholakala kwenye ye-chromosome ezingelona ubulili (autosomes). Ukuze uzuze isifo se-autosomal recessive, womabili abazali kufanele babe ngabaphathi, kodwa ngokuvamile ababonisi izimpawu zalesi simo. Ingane elimele izuza amakhophi amabili e-gene engavamile - elinye elivela kumzali ngamunye.

Imbangela evamile kakhulu ye-metachromatic leukodystrophy ukuguqulwa kwe-ARSA gene. Lokhu kuqondakali kubangela ukungabikho kwe-enzyme ephula amafutha okuthiwa sulfatides aqoqana ku-myelin.

Ngokungavamile, i-metachromatic leukodystrophy ibangelwa ukungabikho kwezinye izinhlobo ze-protein (i-activator protein) ephula i-sulfatides. Lokhu kubangelwa ukuguqulwa kwe-PSAP gene.

Ukuqoqana kwe-sulfatides kunenkani, kubhubhisa amaseli akhiqiza i-myelin - okuthiwa futhi i-white matter - avikelekile izinzwa. Lokhu kubangela ukonakala kokusebenza kwamaseli ezinzwa ebuchosheni, e-spinal cord nasezinzwini ezingaphandle.

Udokotela wakho uzokwenza uvivinyo lomzimba — oluhlanganisa novivinyo lwezinzwa — futhi ahlole izimpawu nomlando wezokwelapha ukuze ahlole izimpawu ze-metachromatic leukodystrophy. Udokotela wakho angase ayalele ukuhlolwa ukuze aqinisekise isifo. Lezi zivivinyo ziphinde zisize ekuqondeni ukuthi isifo sibuhlungu kangakanani. Izivivinyo zelebhu. Izivivinyo zegazi zibheka ukushoda kwe-enzyme okubangela i-metachromatic leukodystrophy. Izivivinyo zomchamo zingasetshenziswa ukuhlola amazinga e-sulfatide. Izivivinyo ze-genetic. Udokotela wakho angase enze izivivinyo ze-genetic ukuze ahlole ukuguqulwa kwe-gene ehlobene ne-metachromatic leukodystrophy. Angase futhi acebise ukuhlolwa kwamalungu omndeni, ikakhulukazi abesifazane abakhulelwe (ukuvivinywa kwangaphambi kokubeleka), ukuze ahlole ukuguqulwa kwe-gene. Ukuhlolwa kokusabalalisa kwezinzwa. Lo mvivinyo uqapha amandla ezimpendulo zezinzwa kanye nomsebenzi wemisipha nezinzwa ngokudlulisa umfutho omncane nge-electrodes esikhunjeni. Udokotela wakho angase asebenzise lo mvivinyo ukuze ahlole ukulimala kwezinzwa (i-peripheral neuropathy), okuvamile kubantu abane-metachromatic leukodystrophy. Ukuqoshwa kwe-magnetic resonance (MRI). Lo mvivinyo usebenzisa ama-magnets anamandla namaza erediyo ukuze akhiqize izithombe ezinemininingwane yengqondo. Lezi zingabonisa iphethini egqamile (i-tigroid) yendaba emhlophe engavamile (i-leukodystrophy) engqondweni. Izivivinyo zezokwengqondo nezivivinyo zokuqonda. Udokotela wakho angase ahlole amakhono ezokwengqondo nokucabanga (okuqonda) futhi ahlole ukuziphatha. Lezi zivivinyo zingasiza ekuqondeni ukuthi isimo liyithinta kanjani imisebenzi yengqondo. Izinkinga zezokwengqondo nezenhlalakahle zingaba yizimpawu zokuqala ezinhlotsheni ze-metachromatic leukodystrophy zabantu abadala nabasha. Ukunakekelwa eMayo Clinic Iqembu lethu lochwepheshe abakhathalelayo baseMayo Clinic lingakusiza ngezinkinga zakho zempilo ezihlobene ne-metachromatic leukodystrophy Qala Lapha

I-Metachromatic leukodystrophy ayikapheli ukwelashwa, kodwa ukuhlolwa kwemithi kunesithembiso esithile sokwelashwa kwesikhathi esizayo. Ukwelashwa kwamanje kugxilwe ekunqobeni ukonakala kwama-nerve, ukunciphisa ukuqhubeka kokuphazamiseka, ukuvimbela izinkinga nokunikeza ukunakekelwa okusekayo. Ukuqaphela nokuhlanganiswa kwasekuqaleni kungathuthukisa imiphumela kwabanye abantu abanelile leli cala.Njengoba leli cala liqhubeka, izinga lokukhathalela eliyimfuneko ukuhlangabezana nezidingo zansuku zonke liyakhula. Ithimba lakho lokukhathalela impilo lizohlangana nawe ukusiza ekuqondiseni izimpawu nezimpawu futhi lizomelela ukuthuthukisa ikhwalithi yokuphila. Xoxa nodokotela wakho ngokuthatheka kokubamba iqhaza ekuhlolweni kwemithi.

I-Metachromatic leukodystrophy ingaphathwa ngezindlela eziningi zokwelapha:

• Imithi. Imithi inganciphisa izimpawu nezimpawu, njengoba kunjalo izinkinga zokuziphatha, ukuhlushwa, ubunzima bokuphumula, izinkinga zesisu, ukutheleleka nobuhlungu.
• Ukwelashwa komzimba, umsebenzi nokukhuluma. Ukwelashwa komzimba ukuthuthukisa ukuguquguquka kwemisipha nezinhlangothi nokulondoloza ukunyakaza kungasiza. Ukwelashwa komsebenzi nokukhuluma kungasiza ekuqondiseni ukusebenza.
• Usizo lokudla. Ukusebenza nochwepheshe wokudla (isipesheli) kungasiza ekuhlinzekeni ngokudla okufanele. Ekugcineni, kungaba nzima ukugwinya ukudla noma ulwelo. Lokhu kungadingeka izinto zokusiza ukondla njengoba isimo siqhubeka.
• Ezinye izindlela zokwelapha. Ezinye izindlela zokwelapha zingadingeka njengoba isimo siqhubeka. Isibonelo sibandakanya isihlalo sabakhubazekile, i-walker noma ezinye izinto zokusiza; ukugeleza komoya ukukusiza ekuphefumuleni; izindlela zokwelapha zokuvimbela noma ukulungisa izinkinga; nokunakekelwa isikhathi eside noma ukungena esibhedlela.

Ukukhathalela i-metachromatic leukodystrophy kungaba yinkimbinkimbi futhi kushintshe ngokuhamba kwesikhathi. Ukuvakashela njalo ngokuqhubekayo ngamaqembu ochwepheshe bezokwelapha abanolwazi ekuqondiseni leli cala kungasiza ekuvimbeleni izinkinga ezithile nokuhlanganisa nawe ukusekelwa okufanele ekhaya, esikoleni noma emsebenzini.

Izindlela zokwelapha i-metachromatic leukodystrophy ezifundwayo zihlanganisa:

• Ukwelashwa lwe-gene nezinye izinhlobo zokwelashwa kwe-cell ezifaka ama-gene aphilile ukuze athathe indawo alawo agulayo
• Ukwelashwa kokubuyisela noma ukuthuthukisa ama-enzyme ukunciphisa ukwakheka kwezinto ezincelisayo
• Ukwelashwa kokunciphisa i-substrate, okunciphisa ukukhiqizwa kwezinto ezincelisayo

Ukukhathalela ingane noma ilungu lomndeni elinecala elide futhi elibi kakhulu njenge-metachromatic leukodystrophy kungaba ukucindezeleka nokukhathala. Izinga lokukhathalela komzimba kwansuku zonke liyakhula njengoba isifo siqhubeka. Ungase ungazi ukuthi yini okulindelekile, futhi ungase ukhathazeke ngekhono lakho lokwenza ukunakekelwa okudingekayo.

Cabanga ngalezi zinyathelo zokuzilungiselela:

• Funda ngaleli cala. Funda konke ongakwazi nge-metachromatic leukodystrophy. Khona-ke ungenza izinqumo ezinhle futhi ube yisikhulu sakho noma sengane yakho.
• Thola iqembu lochwepheshe abathembakele. Kuzodingeka wenze izinqumo ezibalulekile mayelana nokunakekelwa. Ama-medical centers anamaqembu akhethekile angakunikeza ulwazi ngaleli cala, ahlele ukunakekelwa kwakho phakathi kwabachwepheshe, akusize ekuhlolweni kwezinketho nokunikeza ukwelashwa.
• Funani eminye imindeni. Ukukhuluma nabantu ababhekana nezinselele ezifanayo kungakunikeza ulwazi nokusekelwa ngokomzwelo. Buza udokotela wakho ngamaqembu wokusekela emphakathini wakho. Uma iqembu lingelona wena, mhlawumbe udokotela wakho angakubeka ekuthintweni nomndeni ophathwe leli cala. Noma ungase ukwazi ukuthola ukusekelwa kweqembu noma lomuntu ngamunye ku-inthanethi.
• Cabanga ngokusekelwa kwabanakekeli. Cela noma wamukele usizo ekuqondiseni othandekayo wakho uma kudingeka. Izinketho zokusekelwa okwengeziwe zingabandakanya ukubuza ngemithombo yokunakekelwa kokupumula, ukucela ukusekelwa emindenini nabangane, nokuthatha isikhathi sezintshisekelo nemisebenzi yakho siqu. Ukwelashwa ngochwepheshe wezempilo yengqondo kungasiza ekulungiseni nasekuphatheni.