Yintoni i-gangliosidosis, iimpawu kunye nonyango

Umxholo

• Iimpawu eziphambili
• Uxilongo lwenziwa njani
• Unyango lwe-gangliosidosis

I-Gangliosidosis sisifo esinqabileyo semfuza esibonakaliswa kukuncipha okanye ukungabikho komsebenzi we-beta-galactosidase enzyme, enoxanduva lokuthotywa kweemolekyuli ezinzima, ezikhokelela ekuqokeleleni kwabo kwingqondo nakwamanye amalungu.

Esi sifo sibaluleke kakhulu xa sivela kwiminyaka yokuqala yobomi kwaye isifo senziwa ngokusekwe kwiimpawu kunye neempawu eziboniswe ngumntu, kunye neziphumo zovavanyo ezibonisa umsebenzi we-beta-galactosidase enzyme kunye nobukho yenguqu kwi-GBL1 yemfuza, enoxanduva lokulawula umsebenzi wale enzyme.

Iimpawu eziphambili

Iimpawu ze-gangliosidosis ziyahluka ngokobudala obubonakalayo, kwaye esi sifo sithathwa njengesiqine xa iimpawu zibonakala phakathi kweminyaka engama-20 nengama-30 ubudala:

• Chwetheza mna okanye i-gangliosidosis yentsana: Iimpawu zibonakala ngaphambi kweenyanga ezi-6 ubudala kwaye zibonakaliswa kukungasebenzi kakuhle kwenkqubo yemithambo-luvo, ukungeva okuqhubela phambili kunye nokungaboni, buthathaka izihlunu, ubuntununtunu kwingxolo, isibindi esandisiweyo kunye nokudakumba, ukukhubazeka kwengqondo, ubuso obunzulu kunye notshintsho lwentliziyo, umzekelo. Ngenxa yenani elikhulu leempawu ezinokuphuhliswa, olu hlobo lwe-gangliosidosis luthathwa njengeyona nto inzima kwaye iminyaka yobomi iyiminyaka emi-2 ukuya kwemi-3;
• Uhlobo lweGangliosidosis II: Olu hlobo lwe-gangliosidosis lunokuhlelwa njengentsana-emva kwexesha, xa iimpawu zibonakala phakathi kweminyaka eyi-1 ukuya kwe-3, okanye ulutsha, xa zibonakala phakathi kweminyaka emi-3 ukuya kweli-10. Iimpawu eziphambili zolu hlobo lwe-gangliosidosis zilibazisekile okanye zihlehlisiwe kwimoto kunye nokukhula kwengqondo, i-atrophy yengqondo kunye notshintsho kumbono. Uhlobo lwe-Gangliosidosis II luthathelwa ingqalelo njengobukhali ngokulinganayo kwaye ubude bokuphila buhluka phakathi kweminyaka emi-5 ukuya kweli-10;
• Uhlobo lweGangliosidosis II okanye umntu omdala: Iimpawu zinokuvela kwiminyaka eli-10 ubudala, nangona kuyinto eqhelekileyo ukuvela phakathi kweminyaka engama-20 nengama-30, kwaye ibonakaliswa kukuqina okungazenzisiyo kwezihlunu kunye notshintsho emathanjeni omqolo, anokubangela i-kyphosis okanye i-scoliosis, umzekelo . Olu hlobo lwe-gangliosidosis luthathwa njengobumnene, nangona kunjalo ubukhulu beempawu zinokwahluka ngokwenqanaba lomsebenzi we-enzyme beta-galactosidase.

I-Gangliosidosis sisifo se-autosomal esibuhlungu, oko kukuthi, ukuba umntu asibonise esi sifo, kufuneka ukuba abazali babo ubuncinci babe ngabathwali bemfuza eguqulweyo. Ke, kukho i-25% yamathuba omntu wokuzalwa notshintsho kuhlobo lwe-GBL1 kunye ne-50% yomntu ophethe i-gene.

Uxilongo lwenziwa njani

Ukuchongwa kwe-gangliosidosis kwenziwa ngokuvavanya iimpawu zeklinikhi eziboniswe ngumntu, ezinje ngobuso obugqithisileyo, isibindi esandisiweyo kunye nokudakumba, ukulibaziseka kwengqondo kunye notshintsho olubonakalayo, umzekelo, ezixhaphakileyo ukubonakala kwinqanaba lokuqala lesifo.

Ukongeza, iimvavanyo zenziwa ukunceda ukuqinisekisa isifo, njengemifanekiso ye-neurological, ukubala kwegazi, apho ubukho be-lymphocyte ene-vacuoles buhlolwa, uvavanyo lomchamo, apho uxinzelelo oluphezulu lwe-oligosaccharides kumchamo luchongwa, kunye nemfuza uvavanyo, olujolise ekuchongeni utshintsho olunoxanduva lwesifo.

Ukuxilongwa kunokwenziwa ngexesha lokukhulelwa ngovavanyo lofuzo kusetyenziswa isampulu ye-chorionic villus okanye iiseli ze-amniotic fluid. Ukuba ngaba olu vavanyo luchanekile, kubalulekile ukuba usapho lukhokelwe malunga neempawu umntwana anokuzihlakulela ubomi bakhe bonke.

Unyango lwe-gangliosidosis

Ngenxa yokuhamba rhoqo kwesi sifo, kude kube ngoku akukho lunyango lusekwe kakuhle, kwaye iimpawu zilawulwa, ezinje ngesondlo esaneleyo, ukubeka esweni ukukhula, unyango lwentetho kunye nonyango lomzimba ukukhuthaza intshukumo nentetho.

Ukongeza, ukuvavanywa kwamehlo ngamaxesha athile kunye nokubeka iliso kumngcipheko wosulelo kunye nesifo sentliziyo kuyenziwa.