Isifo se-Krabbe sisimo esonakalisayo esichaphazela inkqubo ye-nervous
Isifo se-Krabbe, esaziwa nangokuthi i-globoid cell leukodystrophy, isifo esichaphazelekayo somzimba esichaphazela isistim somdla. Abantu abanesifo se-Krabbe banentshintsho kwi-GALC gene yabo. Ngenxa yolu tshintsho, abavelisi ngokwaneleyo ye-enzyme galactosylceramidase. Oku kulahleka kukhokelela ekulahlekelweni okuqhubekayo kwendawo yokukhusela ekhusele iiseliti zeentsimbi, ezibizwa ngokuthi i- myelin .
Ngaphandle kwesi sikhokelo sokukhusela, iimbilini zethu azikwazi ukusebenza kakuhle, zilimaza ubuchopho bethu kunye nenkqubo yethu yeentetho.
Isifo se-Krabbe sichaphazela u-1 kubantu abayi-100,000 emhlabeni wonke, kunye neziganeko eziphezulu kwiingingqi ezithile kwaSirayeli.
Iimpawu zeCrabbe Disease
Kukho ezine ezine-subtypes zesifo se-Krabbe, ngasinye sinokuqala kunye neempawu.
| Uhlobo 1 | Infantile | Uqala phakathi kweenyanga ezi-3 ukuya kwezi-6 ubudala |
| Uhlobo 2 | Ngaphantsi kwintsana | Uqala phakathi kweenyanga ezintandathu kunye neminyaka emithathu ubudala |
| Uhlobo lwe-3 | Abantwana | Uqala phakathi kweminyaka emi-3 kuya kwe-8 ubudala |
| Uhlobo 4 | Ukuqala kwabantu abadala | Uqala nanini na ixesha emva kweminyaka eyi-8 ubudala |
Ekubeni isifo se-Krabbe sichaphazela iiseli zesiswini, ezininzi iimpawu ezibangelwa yiyolological. Uhlobo lwe-1, uhlobo oluncinane, i-akhawunti engama-85 ukuya kuma-90 ekhulwini. Uhlobo 1 luqhubela phambili ngokusebenzisa izigaba ezintathu:
- Isigaba 1: Siqala malunga neenyanga ezintathu ukuya ezintandathu emva kokuzalwa. Iintsana ezichaphazelekayo ziyeke ukukhula kwaye zicaphuke. Ziba neetoni eziphezulu (izihlunu zizinzima okanye zixesha) kunye nokukhathazeka kokutya.
- Isigaba sesi-2: Umonakalo omkhulu weseli yentsholongwane eyenzekayo, ekhokelela ekulahlekelweni kokusetyenziswa kwemisipha, ukunyuka kwethambo lomsila, ukugqithisa umva, kunye nomonakalo embonweni. Ukuqhaqeka kungaqala.
- Isigaba sesi-3: Umntwana uyaba yimfama, uyisithulu, engazi kakuhle iindawo ezizungezile, kwaye uzinzile kwi-posture. Ubomi bezingane ezine-Type 1 zi malunga neenyanga ezili-13.
Ezinye iintlobo zesifo se-Krabbe ziqala emva kwexesha lophuhliso oluqhelekileyo. Ezi ntlobo nazo ziyaqhubeka zincinci ngaphezu kohlobo lwe-1. Ngokubanzi abantwana abaphili ngaphezu kweminyaka emibili emva kohlobo lwe-2 luqala. Ukulindela ubomi kwiintlobo 3 kunye no-4 ziyahluka, kwaye iimpawu zingaba nzima.
Indlela I-Krabbe Izifo Ezifunyanwa Ngayo
Ukuba iimpawu zomntwana wakho zibonisa isifo se-Krabbe, ukuhlolwa kwegazi kunokwenziwa ukuba babone ukuba banesifo se-galactosylceramidase, beqinisekisa ukuba isifo se-Krabbe sisifo. Ukutyhulwa kwe-lumbar kungenziwa ukuba isampulule i-cerebrospinal fluid. Amanqanaba eeprotheyini aphezulu kakhulu angabonisa eso sifo. Ukuze umntwana azalwe enemeko, bobabili abazali kufuneka bathathe i-genetic mutation - ekhoyo kwi-chromosome 14. Ukuba abazali bayithwala i-gene, umntwana wabo ongakazalwa unokuvavanyelwa ukulahleka kwe-galactosylceramidase. Ezinye iindawo zinikeza isifo sesifo sikaKrabbe.
Unyango
Akukho nonyango kwisifo seKrabbe. Uphando olutshanje luye lathintela kwi-hematopoietic stem cell transplantation ( HSCT ), amangqamuzana angama-cell aqhubekileyo abe ngamaseli egazi, njengokuba unyango lwalo mqathango. I-HSCT isebenza kakuhle xa inikezelwa kwizigulane ezingabonakali izimpawu okanye zibonisa ukuba zibonisa impawu ezintle.Unyango lusebenza kakuhle xa unikezelwa ngenyanga yokuqala yobomi.
I-HCST inokubanceda abo baqalise ngokukhawuleza okanye izifo ezihamba phambili ngokuthe ngcembe kunye nabantwana abanesifo esincinci sokusasazeka xa kunikwa ngokukhawuleza. Ngoxa i-HCST ayiyi kuphilisa eso sifo, inokubonelela ngomgangatho obhetele wobomi - ukulibazisa ukukhula kwesifo nokwandisa ixesha lokuphila. Nangona kunjalo, i-HCST iza neengozi zayo kwaye inezinga lokufa kweepesenti ezili-15.
Uphando lwangoku luphanda unyango olujoliswe kumakishi abatshitshisiweyo, unyango oluthathe isikhundla lwe-enzyme, unyango lwezityalo kunye ne-neural stem cell transplantation. Ezi zonyango zizo zonke izigaba zazo zokuqala kwaye ayikaqali izilingo zamachiza.
Iinkcukacha zale nqaku zithathwe ukusuka:
Tegay, iDH (2014). Isifo seKrabbe. eMedicine.