Isifo sikaKrabbe yisifo esizuzwe njengefa esithinta izinzwa zesistimu yezinzwa. Ithinta cishe umuntu oyedwa kwabayikhulu futhi imvamisa ithinta izingane. Kubangelwa ukungasebenzi kahle kwe-enzyme okudala ukulimala emgodleni we-myelin.

Incazelo

Isifo i-Krabbe yisifo esizuzwe njengefa esichitha umgogodla ozungeze amaseli ezinzwa (i-myelin) enkabeni (ubuchopho nomgogodla) nohlelo lwezinzwa oluphathelene nomngcele.

Ezimweni eziningi, izimpawu nezimpawu zesifo seKrabbe zikhula ezinganeni zingakabi nezinyanga eziyisithupha, okuvame ukuholela ekufeni eneminyaka emibili. Lapho sikhula ezinganeni ezindala nakubantu abadala, inkambo yalesi sifo ingahluka kakhulu.

Alikho ikhambi lesifo seKrabbe, kanti ukwelashwa kugxile ekunakekelweni okusekelayo. Kodwa-ke, izindlela zokufakelwa kwe-stem cell zikhombise impumelelo ethile ezinganeni ezilashwa ngaphambi kokuthi kuqale izimpawu nakwezinye izingane ezindadlana nabantu abadala.

Isifo seKrabbe sithinta cishe umuntu oyedwa kwabayikhulu. Ifomu lezinsana libala amacala ayi-1% kubantu abasenyakatho neYurophu. Yaziwa nangokuthi i-globoid cell leukodystrophy.

Izimbangela zesifo sikaKrabbe

Isifo se-Krabbe sibangelwa ukuguqulwa kofuzo oluthile (GALC) olukhiqiza i-enzyme ethile (galactocerebrosidase). Ukungabikho kwale enzyme okubangelwa ukuguqulwa kuholela ekuqoqweni kwemikhiqizo (i-galactolipids) ezobhubhisa ama-oligodendrocyte - amaseli asuka ekubunjweni kwe-myelin. Ukulahlekelwa okulandelayo kwe-myelin (into ebizwa ngokuthi i-demyelination) kuvimbela amaseli ezinzwa ekuthumeleni nasekutholeni imilayezo.

Ngubani othinteka kakhulu?

Ukuguqulwa kwezakhi zofuzo okuhambisana nesifo seKrabbe kubanga lesi sifo kuphela uma isiguli siguqule amakhophi wesakhi sofuzo esizuzwe ngabazali. Isifo esivela kumakhophi amabili aguqukile sibizwa ngokuthi yi-autosomal recessive disorder.

Uma umzali ngamunye enekhophi eguquliwe yesakhi sofuzo, ubungozi enganeni bungaba ngokulandelayo:

• Ingozi engama-25% yokuzuza amakhophi amabili aguqukile, okungaholela kulesi sifo.
• Ingozi engama-50% yokuzuza njengefa kukhophi eyodwa eshintshiwe. Ingane lapho-ke iyisithwali soguquko kodwa ayisitholi isifo.
• Ingozi engama-25% yokuzuza amakhophi amabili ejwayelekile wesakhi sofuzo.

Ukuxilongwa kwesifo seKrabbe

Kwezinye izimo, isifo seKrabbe sitholakala ezinganeni ezisanda kuzalwa ngokuhlolwa kokuhlolwa ngaphambi kokuba kuvele izimpawu. Kodwa-ke, ezimweni eziningi, ukuqala kwezimpawu kubangelwa kuqala ngaphambi kokuhlolwa, ngokuhlolwa okulandelayo kwezimbangela ezingaba khona.

Ukuhlolwa kwelabhulali

Isampula yegazi kanye ne-biopsy (isampula elincane lesikhumba) kuthunyelwa ebhodini ukuhlola izinga lomsebenzi we-enzyme ye-GALC. Izinga lomsebenzi ophansi kakhulu noma elingu-zero lingakhombisa ubukhona besifo seKrabbe.

Yize imiphumela isiza udokotela ukuthola ukuxilongwa, ayinikezeli ubufakazi bokuthi lesi sifo singashesha kangakanani. Isibonelo, umsebenzi ophansi kakhulu we-GALC akusho ukuthi lesi sifo sizoqhubeka ngokushesha.

I-Electroencephalogram (EEG)

I-EEG engajwayelekile ingaqinisa umbono wesifo.

Ukuhlola ukuhlolwa

Udokotela wakho angalawula ukuhlolwa okukodwa noma okuningi okungathola ukulahleka kwe-myelin ezindaweni ezithintekile zobuchopho. Lezi zivivinyo zifaka:

• IMagnetic Resonance Imaging, ubuchwepheshe obusebenzisa amagagasi omsakazo namandla kazibuthe ukukhiqiza izithombe ezinemininingwane engu-3-D.
• I-tomography ekhompyutheni, ubuchwepheshe obukhethekile be-radiology obuveza izithombe ezinhlangothini ezimbili.
• Ucwaningo lokuqhutshwa kwemizwa, olukala ukuthi izinzwa zingathumela umyalezo ngokushesha kangakanani. Lapho i-myelin ezungeze izinzwa ingasebenzi kahle, ukuqhutshwa kwezinzwa kuhamba kancane.

Ukuhlolwa kofuzo

Ukuhlolwa kofuzo kungenziwa ngesampula yegazi ukuqinisekisa ukuxilongwa.

Ukuhlolwa kofuzo ukuhlola ubungozi bokuthola ingane enesifo seKrabbe kungabhekwa ezimweni ezithile:

• Uma abazali bengabathwali abaziwayo, banga-oda ukuhlolwa kwezakhi zofuzo ngaphambi kokubeletha ukuthola ukuthi ingane yabo kungenzeka ihlaselwe yilesi sifo.
• Ukuthi umzali oyedwa noma bobabili bangabathwali bokuguqulwa kwezakhi zofuzo ze-GALC ngenxa yomlando owaziwayo womndeni wesifo seKrabbe.
• Uma ingane kutholakala ukuthi inesifo seKrabbe, umndeni ungacubungula ukuhlolwa kofuzo ukukhomba ezinye izingane zabo ezingase zihlakulele lesi sifo kamuva empilweni.
• Abathwali abaziwayo, abasebenzisa i-in vitro fertilization, bangacela ukuhlolwa kofuzo ngaphambi kokufakwa.

Ukuhlolwa okusanda kuzalwa

Kwamanye amazwe, ukuhlolwa kwesifo seKrabbe kuyingxenye yesethi ejwayelekile yokuhlolwa kwezinsana ezisanda kuzalwa. Ukuhlolwa kokuqala kokuhlola kukala umsebenzi we-enzyme ye-GALC. Uma umsebenzi we-enzyme uphansi, ukuhlolwa kwe-GALC yokulandelela nokuhlolwa kofuzo kuyenziwa. Ukusetshenziswa kokuhlolwa kokuhlolwa ezinganeni ezisanda kuzalwa kuyinto entsha.

Ukuziphendukela kwemvelo nezinkinga kungenzeka

Izinkinga eziningi - kufaka phakathi ukutheleleka nobunzima bokuphefumula - zingakhula ezinganeni ezinezifo ezisezingeni eliphakeme zeKrabbe. Ezigabeni zakamuva zalesi sifo, izingane ziyakhubazeka, zihlale emibhedeni yazo, bese zigcina sezimila.

Iningi lezingane eziba nesifo seKrabbe ebuntwaneni zifa zingakabi neminyaka engu-2, imvamisa kakhulu ukwehluleka ukuphefumula noma izinkinga ezivela ekulahlekelweni okuphelele kokuhamba kanye nokwehla okuphawulekayo kwethoni yemisipha. Izingane ezithuthukisa lesi sifo kamuva ebuntwaneni zingaba nesikhathi eside sokuphila, imvamisa phakathi kweminyaka emibili nesikhombisa ngemuva kokutholwa.

Izimpawu nezimpawu zokuqala zesifo seKrabbe zisencane zingafana nokugula okuningana noma izingqinamba zokukhula. Ngakho-ke, kubalulekile ukuthola ukuxilongwa okusheshayo nokunembile uma ingane yakho inezimpawu noma izimpawu zalesi sifo.

Izimpawu nezimpawu ezivame ukuhlotshaniswa nezingane ezindala nabantu abadala azicacisanga isifo seKrabbe futhi zidinga ukuxilongwa okufika ngesikhathi.

Imibuzo udokotela azoyibuza mayelana nezimpawu imi kanje:

• Iziphi izimpawu noma izimpawu ozibonile? Baqale nini?
• Ngabe lezi zimpawu noma lezi zimpawu sezishintshile ngokuhamba kwesikhathi?
• Uke wazi noma yiziphi izinguquko ekunakekelweni kwengane yakho?
• Ingabe ingane yakho ibe nomkhuhlane?
• Uke wakubona ukucasuka okungavamile noma okweqile?
• Uke wazi noma yiziphi izinguquko emikhubeni yokudla?

Imibuzo, ikakhulukazi ezinganeni ezindala noma kubantu abadala, ingaba:

• Ngabe ingane yakho izithole zinoshintsho ekusebenzeni kwayo ezifundweni?
• Ingabe ube nobunzima ngemisebenzi ejwayelekile noma imisebenzi ehlobene nomsebenzi?
• Ingabe ingane yakho ilashelwa enye inkinga yezokwelapha?
• Ingabe ingane yakho isanda kuqala ukwelashwa okusha?

Ezimweni eziningi, izimpawu nezimpawu zesifo seKrabbe zivela ezinyangeni ezimbalwa zokuqala ngemuva kokuzalwa. Ziqala kancane kancane kancane kancane.

Izimpawu nezimpawu ezivamile ekuqaleni kwesifo (phakathi kwezinyanga ezimbili kuya kweziyisithupha zokuphila) zimi kanje:

• Ukuncelisa ubunzima
• Ukumemeza okungachazeki
• Ukucasuka okukhulu
• Imfiva engenazo izimpawu zokutheleleka
• Ukwehla kokuqapha
• Ukubambezeleka ezigabeni zentuthuko
• Ama-spasms we-muscle
• Ukulawulwa kwekhanda okungalungile
• Ukuhlanza njalo

Njengoba lesi sifo siqhubeka, izimpawu nezimpawu ziba nzima kakhulu. Zingafaka:

• Ukuthuthukiswa okungavamile
• Ukulahleka okuqhubekayo kokuzwa nokubona
• Imisipha eqinile futhi eqinile
• Ukulahleka kancane kancane kwekhono lokugwinya nokuphefumula

Lapho isifo sikaKrabbe sikhula kamuva ebuntwaneni (iminyaka eyi-1 kuye kwengu-8) noma sibe semdala (ngemuva kweminyaka engu-8), izimpawu nezimpawu zingahluka kakhulu futhi zifaka:

• Ukulahleka kombono okuqhubekayo nge-peripheral neuropathy noma ngaphandle kwayo
• Kunzima ukuhamba (ataxia)
• I-Paresthesia enomuzwa ovuthayo
• Ukulahlekelwa ubuciko besandla
• Ubuthakathaka bemisipha

Njengomthetho ojwayelekile, lapho kuqala ubudala besifo seKrabbe, isifo siqhubeka ngokushesha.

Abanye abantu abatholakala ngesikhathi sobusha noma ebudaleni bangaba nezimpawu ezinzima kakhulu, lapho ubuthakathaka bemisipha buyisimo sokuqala. Kungenzeka bangabi noshintsho kumakhono abo okuqonda.

Kubalulekile ukuthi ingane ilandelele ukuze ibheke ukukhula kwayo, ikakhulukazi:

• ukukhula kwakhe
• Ithoni yakhe yemisipha
• Amandla emisipha yakhe
• Ukudidiyela kwayo
• Isimo sakhe
• Amandla abo wezinzwa (umbono, ukuzwa nokuthinta)
• Ukudla kwakhe

Ezinganeni esezivele zinezimpawu zesifo seKrabbe, njengamanje alukho unyango olungaguqula ukuhamba kwalesi sifo. Ukwelashwa ngakho-ke kugxile ekuphatheni izimpawu nasekuhlinzekeni ukunakekelwa okusekelayo.

Ukungenelela kufaka:

• izidakamizwa ze-anticonvulsant ukuphatha ukuquleka;
• izidakamizwa zokunciphisa ukuqina kwemisipha nokucasula;
• i-physiotherapy ukunciphisa ukuwohloka kwethoni yemisipha;
• ukuhlinzekwa kwezakhamzimba, ngokwesibonelo ngokusebenzisa ithumbu lesisu ukuletha uketshezi nezakhi zomzimba ngqo esiswini.

Ukungenelela kwezingane ezindala noma kwabantu abadala abanezinhlobo zesifo esibi kungabandakanya:

• i-physiotherapy ukunciphisa ukuwohloka kwethoni yemisipha;
• ukwelashwa emsebenzini ukufeza ukuzimela okuningi ngangokunokwenzeka ngemisebenzi yansuku zonke;
• ukufakelwa kabusha kwamaseli we-hematopoietic stem angagcina i-myelin ngokukhiqiza ama-enzyme e-GALC. Zivela egazini lenkaba yenkaba, umnkantsha onikelayo noma amaseli egazi ajikelezayo.

Lokhu kwelashwa kungathuthukisa imiphumela ezinganeni uma ukwelashwa kuqalwa ngaphambi kokuqala kwezimpawu, okungukuthi, lapho kutholakala ukuxilongwa ngemuva kokuhlolwa kwesikrini esisanda kuzalwa. Izinsana ezingakabi nazo izimpawu futhi zithole ukufakelwa kwe-stem cell zihamba kancane kancane kulesi sifo. Kodwa-ke, basenobunzima obukhulu bokukhuluma, ukuhamba namanye amakhono emoto.

Izingane ezindala nabantu abadala abanezimpawu ezincane nazo zingazuza kulokhu kwelashwa.