Adrenoleukodystrophy
Uhlolojikelele
I-Adrenoleukodystrophy (uh-dree-noh-loo-koh-DIS-truh-fee) uhlobo lwesimo esidluliselwa ezizukulwaneni (esifuywayo) esonakalisa imembraney (isikhumba se-myelin) esiqinisa amangqamuzana ezinzwa ebuchosheni bakho.
Kwi-adrenoleukodystrophy (ALD), umzimba wakho awukwazi ukuqothula ama-asidi amafutha amade kakhulu (VLCFAs), okubangela ukuba ama-VLCFAs agcwele agcwele akheke ebuchosheni bakho, ohlelweni lwezinzwa kanye ne-adrenal gland.
Uhlobo oluvamile kakhulu lwe-ALD yi-X-linked ALD, ebangelwa yiphutha le-genetic kwi-chromosome ye-X. I-X-linked ALD ithinta amadoda kakhulu kunabesifazane, abahlala naleli gciwane.
Fomu ze-X-linked ALD zihlanganisa:
- I-Childhood-onset ALD. Lolu hlobo lwe-X-linked ALD luvamise ukuqala phakathi kweminyaka engu-4 nengu-10. Indaba emhlophe yobuchopho yonakala kancane kancane (leukodystrophy), futhi izimpawu ziya mbi ngokuhamba kwesikhathi. Uma kungekho ukuxilongwa kwasekuqaleni, i-childhood-onset ALD ingabangela ukufa phakathi kweminyaka emihlanu kuya kwengu-10.
- Isifo se-Addison. Amagciwane akhiqiza ama-hormone (ama-adrenal glands) avame ukwehluleka ukukhiqiza ama-steroids anele (ukwehluleka kwe-adrenal) kubantu abane-ALD, okubangela uhlobo lwe-X-linked ALD olukwaziwa ngokuthi isifo se-Addison.
- I-Adrenomyeloneuropathy. Lolu hlobo lwe-X-linked ALD oluqala ebuntwini luhlobo olungathí sina futhi oluhamba kancane oluholela ezimpawu ezinjengokuhamba okuqine kanye nokusebenza kakubi kwesisu kanye nezinso. Abafazi abaphethe i-ALD bangathuthukisa uhlobo oluthambile lwe-adrenomyeloneuropathy.
Ukuxilongwa
Ukuthola i-ALD, udokotela wakho uzobuyekeza izimpawu zakho kanye nomlando wakho wezokwelapha nowomndeni. Udokotela wakho uzoqhuba ukuhlolwa komzimba futhi anikeze ukuhlolwa okuhlukahlukene, okuhlanganisa:
- MRI. Ama-magnets anamandla namaza omsakazo adala izithombe ezinemininingwane yengqondo yakho ku-scan ye-MRI. Lokhu kuvumela odokotela ukuthi bathole ukungapheleli ebuchosheni bakho okungabonisa i-adrenoleukodystrophy, kufaka phakathi ukonakala kwezicubu zezinzwa (impahla emhlophe) yengqondo yakho. Odokotela bangase basebenzise izinhlobo eziningi ze-MRI ukuze babone izithombe ezinemininingwane kakhulu yengqondo yakho futhi bathole izimpawu zokuqala ze-leukodystrophy.
- Ukuhlolwa kwamehlo. Ukulinganisa izimpendulo zokubona kungalandelela intuthuko yesifo kumadoda angenazo ezinye izimpawu.
- I-biopsy yesikhumba kanye nokulima kwamangqamuzana e-fibroblast. Isibonelo esincane sesikhumba singathathwa ukuze sihlolwe amazinga aphezulu e-VLCFA kwezinye izimo.
Ukuhlolwa kwegazi. Lezi zivivinyo zibuyekeza amazinga aphezulu ama-asidi amafutha amade kakhulu (VLCFAs) egazini lakho, okuyisibonakaliso esibalulekile se-adrenoleukodystrophy.
Odokotela basebenzisa amasampula egazi ukuhlolwa kwe-genetic ukuze baqonde izici noma ukuguqulwa okubangela i-ALD. Odokotela futhi basebenzisa ukuhlolwa kwegazi ukuhlola ukuthi amagciwane akho e-adrenal asebenza kahle kangakanani.
Ukwelashwa
I-Adrenoleukodystrophy ayilonawo umuthi. Kodwa-ke, ukufakelwa kwamaseli esiqalo kungase kuyeke ukwanda kwe-ALD uma kwenziwa lapho izimpawu zezinzwa ziqala ukuvela khona. Odokotela bazogxila ekunciphiseni izimpawu zakho nokunciphisa ukwanda kwesifo.
Izindlela zokwelapha zingafaka:
- Ukufakelwa kwamaseli esiqalo. Lokhu kungaba yindlela yokunciphisa noma ukuyeka ukwanda kwe-adrenoleukodystrophy kubantwana uma i-ALD itholakala futhi iwelashwe ngokushesha. Amaseli esiqalo angathathwa e-bone marrow nge-ukufakelwa kwe-bone marrow.
- Ukwelashwa kokungasebenzi kahle kwe-adrenal. Abantu abaningi abane-ALD bathuthukisa ukungasebenzi kahle kwe-adrenal futhi kudingeka bahlolwe njalo i-adrenal gland. Ukungasebenzi kahle kwe-adrenal kungaphathwa kahle ngama-steroids (ukwelashwa kokufakelwa kwe-corticosteroid).
- Imithi. Udokotela wakho angase anikeze imithi ezosiza ekuqedeni izimpawu, kufaka phakathi ubunzima nokuhlwitha.
- Ukwelashwa komzimba. Ukwelashwa komzimba kungasiza ekuqedeni ukubamba kwemisipha nokunciphisa ubunzima bemisipha. Udokotela wakho angase akukhuthaze izitulo zamavili namanye amadivayisi okuhamba uma kudingeka.
Evivinyweni lesikhathi esifushane, abafana abanesigaba sokuqala se-cerebral ALD baphathwa nge-gene therapy njengendlela ehlukile yokufakelwa kwamaseli esiqalo. Imiphumela yokuqala ye-gene therapy ithembisa. Ukwanda kwesifo kuqiniswe ngamaphesenti angu-88 abafana ababehileleke ekuvivinyweni. Ucwaningo olwengeziwe luyadingeka ukuhlola imiphumela yesikhathi eside nokulondeka kwe-gene therapy ye-cerebral ALD.
Umshwana wokuzihlangula: I-August iyinkundla yolwazi lwezempilo futhi izimpendulo zayo azihlanganisi iseluleko sezokwelapha. Njalo thintana nochwepheshe bezokwelapha onelayisensi eduze nawe ngaphambi kokwenza noma yiluphi ushintsho.