I-Globoid cell leukodystrophy - isifo se-Krabbe

Isifo seKrabbe (GLD)

Isifo se-Krabbe, eyaziwa kakhulu ngokuthi i-globoid cell leukodystrophy, isifo sezinzwa esisongela ukuphila. Ingenye yochungechunge lwezimo ezaziwa ngokuthi i-leukodystrophies, ebangelwa ukuwohloka kwe-myelin ohlelweni lwezinzwa (demyelination). I-Myelin iyingqimba evikelayo ezungeze amangqamuzana ezinzwa futhi iqinisekisa ukuthi izimpawu zemizwa zidluliselwa ngokushesha. Isifo se-Krabbe sibonakala ngamaseli obuchopho angavamile aziwa ngokuthi ama-globoid cells, angamaseli amakhulu anenucleus engaphezu kweyodwa.

Uhlobo lwezinsana lwesifo i-Krabbe luvame kakhulu futhi luqala ngaphambi kweminyaka yobudala. Ukucasuka, ubuthakathaka bemisipha, ubunzima bokudla, iziqephu zokushisa ngaphandle kobufakazi bokugula, ukuma okuqinile, nokubambezeleka kokukhula kwengqondo nomzimba kuyizimpawu nezimpawu ezivamile. Imisipha iyawohloka njengoba lesi simo siqhubeka, okwenza usana lungakwazi ukunyakaza, ukuhlafuna, ukugwinya nokuphefumula. Ukulahlekelwa ukubona kanye nokuquleka kuvame kakhulu ezinganeni ezisanda kuzalwa ezithintekile. Abantu abanesifo sosana lwesifo i-Krabbe abavamile ukuphila badlule iminyaka emibili ngenxa yobunzima besifo.

Isifo sika-Krabbe asivamile ukuvela ebuntwaneni, ebusheni, noma ebudaleni (amafomu okuqala sekwephuzile). Izimpawu zokuqala ezivame kakhulu ezinhlobonhlobo zalesi simo ukukhubazeka kwamehlo kanye nobunzima bokuhamba; nokho, izinkomba nezimpawu ziyehluka kakhulu kubantu abathintekile. Iziguli zesifo i-Krabbe ezisanda kuqala zingaphila iminyaka eminingi ngemva kokuqala kwalesi sifo.

Izinkinga ze-Krabbe

Isifo se-Krabbe sibangelwa ukuguqulwa kofuzo lwe-GALC. Lolu hlobo lwamakhodi we-galactosylceramidase, i-enzyme ephula amafutha athile abizwa ngokuthi i-galactolipids. I-Galactosylceramide, i-galactolipid edilizwe i-galactosylceramidase, iyingxenye enkulu ye-myelin. Ukubola kwe-Galactosylceramide kuyisici esijwayelekile sokushintsha kwe-myelin okwenzeka kuyo yonke impilo. I-Psychosine, i-galactolipid ekhiqizwa ngesikhathi sokuhlanganiswa kwe-myelin, iyingozi uma ingaphulwa yi-galactosylceramidase.

Umsebenzi we-enzyme ye-galactosylceramidase wehla kakhulu lapho isakhi sofuzo se-GALC siguqulwa. I-Galactosylceramide ne-psychosine azikwazi ukuhlukaniswa ngenxa yalokho. I-galactosylceramide eyeqile iyanqwabelana kwamanye amaseli, okuholela kumaseli e-globoid. Ukwakheka kwalawa ma-galactolipids kulimaza amaseli akha i-myelin, kuvimbele ukukhiqizwa kwe-myelin futhi kuholele ekuwohlokeni kwemizwa ohlelweni lwezinzwa. Izinzwa ezisebuchosheni nakwezinye izifunda zomzimba ezingenayo i-myelin azikwazi ukudlulisa ama-impulses ngempumelelo, okuholela ezimpawini nezimpawu zesifo i-Krabbe.

Izimpawu zesifo seKrabbe

Leli fomu elithinta u-90% wabantu abane-Krabbe livela ezinyangeni ezimbalwa zokuqala zokuphila futhi libangela izimpawu ezifana nalezi:

• Ukubambezeleka kokuthuthukiswa
• ukuquleka
• Ukuqina kwezitho
• I-Optic atrophy: ukuwohloka komsipha weso, okuholela ebunzimeni bokubona
• Ukungezwa kwe-Neurosensoral
• Ukucasuka okukhulu
• I-Spasticity: ukuba khona kwama-spasms
• I-Ataxia: ukulahlekelwa ikhono lokulawula ukunyakaza kwemisipha
• Ukwehla kwe-Progressive psychomotor: ukwehla okuqhubekayo ekuxhumaneni kokunyakaza
• Ukuncelisa ubunzima
• Ukukhala okungachazeki
• Ukulahlekelwa ukulawula ikhanda
• Imikhuhlane
• Ukuvota
• Ukucasuka okukhulu
• Ukushintsha kwethoni yemisipha (ukuqina kwezitho nemisipha, ukungahambi kahle kokunyakaza)
• Ukulahleka okuqhubekayo kokuzwa nokubona
• I-Spasticity (ukuba khona kwama-spasms noma imisipha egoqekayo njalo)
• Ukulahleka kwezinyathelo ezibalulekile zentuthuko

Izimpawu ngokuvamile ziqala ezinyangeni ezimbili kuya kweziyisithupha ubudala. Intuthuko ingase ibe yinto evamile kuze kube yileso sikhathi. Ekugcineni izingane zilahlekelwa ukusebenza kwengqondo nemisipha, ezinye zingase zibe izithulu futhi zibe izimpumputhe, zingakwazi ukunyakaza noma ukukhuluma, futhi ngokuvamile kufanele zondliwe ngeshubhu. Isilinganiso seminyaka yokufa yizinyanga eziyi-13 (kusukela ezinyangeni eziyisi-6 kuye eminyakeni emi-5).

Izingane eziningi ezikulesi sigaba sesifo sika-Krabbe azixilongwa kahle. Kuvamile ukuthi abazali balezi zingane batshelwe ukuthi usana lwabo lune-colic, i-reflux, i-allergy yokudla/ubisi, noma i-cerebral palsy.

Ukuxilongwa kwesifo seKrabbe

Kunezindlela eziningi ezisetshenziselwa ukunquma kahle ukuxilongwa kwe-Krabbe. Angabandakanya konke noma okunye kwalokhu okulandelayo:

• Ukulinganisa umsebenzi we-GALC kuma-Leukocyte athathwe kusampula yegazi, i-chorionic villi noma i-fibroblast ekhuliswe ku-biopsy yesikhumba.
• Ukufaniswa kwe-Magnetic Resonance (MRI)
• I-Computerized Tomography (CT)
• I-Electroencephalograms (EEG)
• Ukulinganisa amaprotheni ku-Cerebral Spinal Fluid (CSF)
• Ukuhlolwa kofuzo
• Ukuhlolwa kwejubane lokuhamba kwemizwa

Ukwelashwa kwesifo se-Krabbe

I-Krabbe yelashwa ngokwelashwa okunezimpawu nokusekelayo. Ngenxa yokuthi i-hematopoietic stem cell transplantation (HSCT) kanye nokufakelwa igazi ngentambo kutholakala kuphela ezinganeni ezisanda kuzalwa ngaphambi kokuba zibe nezimpawu futhi mhlawumbe ezithinteke ngokusesilinganisweni ezifika sekwephuzile, kubalulekile ukuxoxa ngezinketho zakho nethimba lakho lezokwelapha. Lokhu kumane kuyizindlela zokwelapha zokunakekela, hhayi ukwelapha.

Lezi zifakelo ziyi-Allogeneic kune-Autologous, futhi ngokuvamile zihlanganisa izinkinga ze-chemotherapy, imisebe, kanye ne-Graft versus Host Disease (GVHD). Igama elithi "autologous" libhekisela kumuntu ozinikele kuye. Kuyinqubo ende nenzima edinga ukucabanga ngokucophelela.

Abacwaningi okwamanje baphenya ukwelashwa kwezakhi zofuzo, ukwelashwa kokubuyisela ama-enzyme, nezinye izindlela ze-otr.