Izifo zoBugcisa
Isifo se-Canavan sisinye seqela leengxaki zezofuzo ezibizwa ngokuba yi-leukodystrophies ezibangelwa iimpazamo kwi-myelin sheath ehlanganisa amangqamuzana enesibindi kwingqondo. Kwizifo zeCanavan, ukuguquka komzimba kwi-chromosome 17 kubangela ukusilela kwe-enzyme ebizwa ngokuthi i-aspartoacylase. Ngaphandle kwe-enzyme, ukungalingani kwemikhemikhali kubangelwa ukutshabalalisa i-myelin kwingqondo.
Oku kubangela ukuba izicubu zengqondo ziphilile zibe zicubu ezinomsila ezigcwele izikhala ezinamanzi ezinje.
Isifo se-Canavan sithatha ifa lokufumana umzekelo wokuba umntwana ufanele azuze i-copy eyodwa ye-genetic mutation kumzali ngamnye ukuze kuphuhliswe eso sifo. Nangona isifo seKhanavan sinokuthi senzeke kunoma yiphina iqela lobuhlanga, lwenzeka rhoqo kumaYuda ase-Ashkenazi asePoland, eLithuania, naseRashiya yasentshonalanga, kunye nase-Saudi Arabia.
Iimpawu
Izibonakaliso zezifo zeKhanavan zivela ebusaneni kwaye ziba zimbi nakwixesha. Zingaquka:
- Ukunciphisa i-muscle tone (hypotonia)
- iintambo zomzimba ezibuthathaka zibangelwa ukulawulwa kwentloko embi
- enkulu inkulu (macrocephaly)
- Imilenze igcinwe ngokungaqhelekanga (i-hyperextension)
- iingcambu zengalo zihlala ziguquguquka
- ukulahlekelwa kwezakhono zezithuthi
- ukulibala kwengqondo
- ukuxhamla
- yimfama
- ubunzima bokutya
Ukuxilongwa
Ukuba iimpawu zeintsana zibonisa isifo seKhanavan, iimvavanyo eziliqela zinokukwenziwa ukuqinisekisa ukuxilongwa.
Ukucwaninga kwe-tomography (CT) okanye i-imagination magnetic resonance (MRI) yengqondo ikhangele ukuguqulwa kweethambo zeengqondo. Iimvavanyo zegazi ziyakwenziwa ukukhenkcelela i-enzyme ekhoyo okanye ukujonga ukuguquka kwemfuyo ebangela isifo.
Unyango
Akukho naluphi unyango lweCanavan, ngoko unyango lujolise ekulawuleni iimpawu.
Ulwaphulo olusisigxina, usebenze, nolululwazi lunokunceda umntwana afikelele ekuphuculeni kwakhe. Ngenxa yokuba isifo seCanavan siqhubeka sibi kakhulu, abantwana abaninzi bayafa beselula (ngaphambi kweminyaka engama-4), nangona abanye bangaphila kwiminyaka yabo yeshumi namashumi amabini.
Uvavanyo lweGenesis
Ngo-1998, i-American College of Obstetricians kunye ne-Gynecologists yamkela isitatimende sesimo sokukhuthaza ukuba oogqirha banikezela ukuhlolwa kwe-Canavan isifo kubo bonke abantu base-Ashkenazi. Umphathiswa unekopi enye yokuguquka kwemfuza, ngoko akayi kuhlakulela eso sifo kodwa angadlulisela ukuguquka komzimba kubantwana. Kuqikelelwa ukuba 1 kwabangu-40 abantu base-Ashkenazi abangamaYuda bathwala izigulo zentsholongwane kwizifo zeCanavan.
Kunconywa ukuba izibini ezisemngciphekweni wokuthwala i-gene eguqulwayo zivavanywe ngaphambi kokukhulelwa umntwana. Ukuba iziphumo zokuvavanya zibonisa ukuba bobabini abazali ngabaxhasi, umcebisi wezofuzo unokunika ulwazi oluninzi malunga nomngcipheko wokuba nosana olunesifo seCanavan. Imibutho yamaYuda amaninzi inikezela ukuhlolwa kofuzo kwizifo zeCanavan kunye nezinye iingxaki ezingaqhelekanga eUnited States, eCanada nakwaSirayeli.
Imithombo:
> "Izifo zeCanavan." Iintlupheko ze-A - Z. 2 uJulayi 2008. Umbutho weSizwe weeNtsholongwane ze-Neurological and Stroke.
> "Izifo zeCanavan." Iintlobo zeLeukodystrophy. 2 Agasti 2007. I-United Leukodystrophy Foundation.
> "Yintoni i-Canavan Disease?" Izifo. Umbutho weSizwe-Tay Sachs & Allied Diseases Association.