Isifo seKrabbe

Isifo i-Krabbe yisifo esingajwayelekile sezakhi zofuzo sohlelo lwezinzwa. Luhlobo lwesifo sobuchopho esibizwa ngeleukodystrophy.

Iphutha kufayela le- IGALC Isakhi sofuzo sibanga isifo seKrabbe. Abantu abanale nkinga yesakhi sofuzo abenzi okwanele (i-enzyme) ebizwa ngegalactocerebroside beta-galactosidase (galactosylceramidase).

Umzimba udinga le enzyme ukwenza i-myelin. I-Myelin izungeze futhi ivikele imicu yezinzwa. Ngaphandle kwale enzyme, i-myelin iyawohloka, amangqamuzana obuchopho ayafa, nezinzwa ebuchosheni nakwezinye izindawo zomzimba azisebenzi kahle.

Isifo seKrabbe singakhula eminyakeni ehlukahlukene:

• Isifo sokuqala seKrabbe sivela ezinyangeni zokuqala zokuphila. Iningi lezingane ezinaleli fomu lesifo zifa zingakafiki eminyakeni emibili.
• Isifo seKrabbe esenzeka ngemuva kwesikhathi siqala ebusheni noma ebusheni.

Isifo seKrabbe sizuzwa njengefa, okusho ukuthi sidluliselwa ngemindeni. Uma bobabili abazali bephethe ikhophi engasebenziyo yofuzo oluhlobene nalesi simo, ingane ngayinye inethuba lama-25% (1 koku-4) lokuthola lesi sifo. Kuyisifo se-autosomal recessive.

Lesi simo asivamile kakhulu. Kuvame kakhulu kubantu abavela eScandinavia.

Izimpawu zesifo sokuqala seKrabbe yilezi:

• Ukushintsha ithoni yemisipha kusuka ku-floppy kuya ku-rigid
• Ukuzwa ukulahlekelwa okuholela ekubeni isithulu
• Ukwehluleka ukuchuma
• Ukondla ubunzima
• Ukuthukuthela nokuzwela emisindweni ephakeme
• Ukuquleka okunamandla (kungaqala esemncane kakhulu)
• Imfiva engachazeki
• Ukulahleka kombono okuholela ekungaboni
• Ukuhlanza

Ngokuqala kwesikhathi kwesikhathi kwesifo seKrabbe, izinkinga zombono zingavela kuqala, zilandelwe ubunzima bokuhamba kanye nemisipha eqinile. Izimpawu ziyahlukahluka kuye ngomuntu. Ezinye izimpawu nazo zingavela.

Umhlinzeki wezokunakekelwa kwempilo uzokwenza ukuhlolwa komzimba abuze ngezimpawu.

Ukuhlolwa okungenziwa kufaka phakathi:

• Ukuhlolwa kwegazi ukubheka amazinga we-galactosylceramidase kumaseli amhlophe egazi
• Amaprotheni esewonke e-CSF - ahlola inani lamaprotheni ku-cerebrospinal fluid (CSF)
• Ukuhlolwa kofuzo kwe-GALC defect of gene
• I-MRI yekhanda
• Isivinini sokuqhuba imizwa

Akukho ukwelashwa okuqondile kwesifo seKrabbe.

Abanye abantu bafakelwe umnkantsha ezinyathelweni zokuqala zalesi sifo, kepha lokhu kwelashwa kunezingozi.

Lezi zinsizakusebenza zinganikeza imininingwane eminingi ngesifo seKrabbe:

• Inhlangano Kazwelonke Yezinkinga Ezingajwayelekile - rarediseases.org/rare-diseases/leukodystrophy-krabbes
• Inkomba yasekhaya ye-NIH Genetics - ghr.nlm.nih.gov/condition/krabbe-disease
• I-United Leukodystrophy Foundation - www.ulf.org

Umphumela kungenzeka ube mncane. Ngokwesilinganiso, izinsana ezinesifo sokuqala seKrabbe zifa zingakabi neminyaka engu-2. Abantu abahlakulela lesi sifo emuva kwesikhathi sebesindile baba ngabantu abadala abanezifo zesistimu yezinzwa.

Lesi sifo silimaza isimiso sezinzwa esiyinhloko. Kungadala:

• Ubumpumputhe
• Izithulu
• Izinkinga ezinzima ngethoni yemisipha

Lesi sifo sivame ukusongela impilo.

Xhumana nomhlinzeki wakho uma ingane yakho iba nezimpawu zalesi sifo. Iya egumbini lezimo eziphuthumayo esibhedlela noma ushayele inombolo yakho yendawo ephuthumayo (njenge-911) uma kwenzeka lezi zimpawu ezilandelayo:

• Ukuquleka
• Ukulahlekelwa ukwazi
• Ukuma okungavamile

Ukwelulekwa ngofuzo kunconyelwa abantu abanomlando womndeni wesifo i-Krabbe abacabanga ukuba nezingane.

Ukuhlolwa kwegazi kungenziwa ukubona ukuthi usiphatha yini isakhi sofuzo seKrabbe.

Ukuhlolwa kokubeletha (amniocentesis noma isampuli ye-chorionic villus) kungenziwa ukuhlola ingane ekhulayo yalesi simo.

I-globid cell leukodystrophy; Ukushoda kweGalactosylcerebrosidase; Ukushoda kweGalactosylceramidase

IGrabowski GA, iBurrow TA, iLeslie ND, iPrada CE. Izifo zokugcina i-Lysosomal. Ku: Orkin SH, Fisher DE, Ginsburg D, Bheka AT, Lux SE, Nathan DG, eds. I-Hematology ne-Oncology kaNathan no-Oski ye-Infancy ne-Childhood. Umhlaka 8. IPhiladelphia, PA: Elsevier Saunders; 2015: isahluko 25.

I-Pastores GM, i-Wang RY. Izifo zokugcina i-Lysosomal. Ku: Swaiman KF, Ashwal S, Ferriero DM, et al, abahleli. I-Swaiman's Pediatric Neurology: Izimiso kanye Nokuzijwayeza. Umhlaka 6. IPhiladelphia, PA: Elsevier; I-2017: isahluko 41.