Isifo seKrabbe

Isifo seKrabbe sisifo esingaqhelekanga semfuza yenkqubo yemithambo-luvo. Luhlobo lwesifo sengqondo esibizwa ngokuba yi-leukodystrophy.

Isiphene kwifayile ye- IGALC Imfuza ibangela isifo seKrabbe. Abantu abanesiphene semfuza abenzi ngokwaneleyo into (i-enzyme) ebizwa ngokuba yi-galactocerebroside beta-galactosidase (galactosylceramidase).

Umzimba uyayifuna le enzayim ukwenza i-myelin. I-Myelin ijikeleze kwaye ikhusela imicu yentsimbi. Ngaphandle kwale enzyme, i-myelin iyaqhekeka, iiseli zobuchopho ziyafa, kwaye imithambo-luvo kwingqondo nakwezinye iindawo zomzimba azisebenzi kakuhle.

Isifo seKrabbe sinokukhula kwiminyaka eyahlukeneyo:

• Isifo seKrabbe sokuqala kwangoko sivele kwiinyanga zokuqala zobomi. Uninzi lwabantwana abanolu hlobo lwesifo bafa ngaphambi kokuba bafikelele kwiminyaka emi-2.
• Ukuqala kwexesha lesifo seKrabbe kuqala ebuntwaneni okanye ebusheni.

Isifo seKrabbe sizuzwa njengelifa, oko kuthetha ukuba sidluliselwa kwiintsapho. Ukuba bobabini abazali baphethe ikopi engasebenziyo yemfuza enxulumene nale meko, umntwana ngamnye kubo une-25% (1 in 4) ithuba lokuphuhlisa esi sifo. Sisifo esibuhlungu sokungazinzi emzimbeni.

Le meko inqabile kakhulu. Kuqheleke kakhulu phakathi kwabantu abavela eScandinavia.

Iimpawu zokuqala isifo seKrabbe zezi:

• Ukutshintsha ithoni yemisipha ukusuka kwi-floppy ukuya kwi-rigid
• Ukuva ilahleko ekhokelela ekubeni isithulu
• Ukungaphumeleli
• Ubunzima bokutya
• Ukucaphuka kunye novakalelo kwizandi ezivakalayo
• Ukuxhuzula okumandla (kungaqala besebancinci kakhulu)
• Iifiva ezingachazwanga
• Ukuphulukana nombono okukhokelela kubumfama
• Ukuhlanza

Ngokuqala kwexesha lesifo seKrabbe, iingxaki zombono zinokubonakala kuqala, zilandelwe bubunzima bokuhamba kunye nezihlunu eziqinileyo. Iimpawu ziyahluka kuye ngomntu. Ezinye iimpawu zinokwenzeka.

Umboneleli wezempilo uya kwenza uvavanyo lomzimba kwaye abuze malunga neempawu.

Uvavanyo olunokwenziwa lunokubandakanya:

• Uvavanyo lwegazi ukujonga amanqanaba egalactosylceramidase kwiiseli ezimhlophe zegazi
• I-protein ye-CSF iyonke-kuvavanywa isixa seprotein kwi-cerebrospinal fluid (CSF)
• Ukuvavanywa kwemfuza kwisiphene semfuza se-GALC
• I-MRI yentloko
• Isantya sokuqhuba kwemithambo

Akukho lonyango lonyango lwe-Krabbe.

Abanye abantu baye bafakelwa umongo wethambo kwinqanaba lokuqala lesi sifo, kodwa olu nyango luneengozi.

Ezi zixhobo zinokubonelela ngolwazi oluthe kratya malunga nesifo seKrabbe:

• Umbutho weSizwe woNxunguphalo oluNqabileyo-ararediseases.org/rare-diseases/leukodystrophy-krabbes
• Isalathiso seKhaya le-NIH yemfuzo- ghr.nlm.nih.gov/condition/krabbe-disease
• Isiseko seUnited Leukodystrophy - www.ulf.org

Isiphumo sinokubi. Ngokomndilili, iintsana ezinesifo sokuqala seKrabbe ziyafa ngaphambi kweminyaka yobudala yesi-2. Abantu abaphuhlisa esi sifo kwiminyaka yobudala kamva baye basinda ebudaleni benesifo se-nervous system.

Esi sifo sonakalisa inkqubo ye-nervous system. Inokubangela:

• Ubumfama
• Izithulu
• Iingxaki ezinzima ngethoni yemisipha

Esi sifo sihlala sisongela ubomi.

Nxibelelana nomboneleli wakho ukuba umntwana wakho uvela kwiimpawu zesi sifo. Yiya kwigumbi likaxakeka esibhedlele okanye utsalele inombolo yakho yongxamiseko yendawo (enje nge-911) ukuba ezi mpawu zilandelayo ziyenzeka:

• Ukuxhuzula
• Ukuphulukana nokuqonda
• Ukuma ngokungaqhelekanga

Ukucebisa ngemfuza kuyacetyiswa kubantu abanembali yosapho yesifo seKrabbe abacinga ngokuba nabantwana.

Uvavanyo lwegazi lunokwenziwa ukubona ukuba uyayiphatha na imfuza yesifo seKrabbe.

Uvavanyo lokubeleka (i-amniocentesis okanye isampulu ye-chorionic villus) lunokwenziwa ukuvavanya umntwana okhulayo kule meko.

Leukodystrophy iseli Globoid; Ukusilela kweGalactosylcerebrosidase; Ukusilela kweGalactosylceramidase

IGrabowski GA, iBurrow TA, iLeslie ND, iPrada CE. Izifo zokugcina i-Lysosomal. Ku: Orkin SH, Fisher DE, Ginsburg D, Jonga AT, Lux SE, Nathan DG, eds. UNathan kunye no-Oski's Hematology kunye ne-Oncology yoBusana kunye noBuntwana. Ngomhla we-8. IPhiladelphia, PA: Elsevier Saunders; 2015: isahluko 25.

UPastore GM, uWang RY. Izifo zokugcina i-Lysosomal. Ku: Swaiman KF, Ashwal S, Ferriero DM, et al, ii-eds. I-Swaiman's Pediatric Neurology: Imigaqo kunye nokuziqhelanisa. Umhla wesi-6. IPhiladelphia, PA: Elsevier; Ngo-2017: isahluko 41.