Izifo Ezibuhlungu Zibongo
Isifo se-Canavan singenye yeqembu lezifo eziphathelene nezofuzo ezibizwa ngokuthi i-leukodystrophies eziholela ekutheni zibe nesisindo se-myelin sheath esihlanganisa amangqamuzana omzimba ebuchosheni. Ezifo ze-Canavan, ukushintshashintsha kwezakhi zofuzo nge-chromosome 17 kubangela ukuntuleka kwe-enzyme ebizwa ngokuthi i-aspartoacylase. Ngaphandle kwalokhu ku-enzyme, kwenzeka ukungalingani kwamakhemikhali okubangela ukubhujiswa kwe-myelin ebuchosheni.
Lokhu kubangela izicubu zobuchopho ezinempilo ukuthi zihlaselwe zibe izicubu ezinamapulangwe ezigcwele izikhala ezinamanzi ezincane.
Izifo ze-Canavan zizuzwe njengefa elilodwa ngokwephethini ephindaphindiwe ye-autosomal , okusho ukuthi ingane kufanele ilandele ikhophi eyodwa yegeni eguquguqukayo kumzali ngamunye ukuze kuthuthukiswe lesi sifo. Nakuba isifo seCanavan singase senzeke kunoma yiluphi uhlanga, kuvela kaningi phakathi kwamaJuda ase-Ashkenazi asePoland, eLithuania, naseRussia entshonalanga, naphakathi kwe-Saudi Arabians.
Izimpawu
Izimpawu zesifo seCanavan zivele zisencane futhi ziba zimbi nakakhulu ngokuhamba kwesikhathi. Zingafaka:
- ukuncipha kwe-muscle tone (hypotonia)
- imisipha yezintamo ezibuthakathaka ibangela ukulawulwa kwekhanda elibi
- ikhanda elikhulu elingavamile (macrocephaly)
- imilenze igcinwa ngokungaqondakali ngqo (i-hyperextension)
- imisipha yesandla ijwayele ukuguquguquka
- ukulahlekelwa kwamakhono emoto
- ukuphuza kwengqondo
- ukuhlukunyezwa
- ubumpumputhe
- ukondla ubunzima
Ukuxilongwa
Uma izimpawu zengane zisho isifo seCanavan, ukuhlolwa okuhlukahlukene kungenziwa ukuze kuqinisekiswe ukuthi kutholakala yini.
I-scan computed tomography (CT) noma i-imaging magnetic resonance (MRI) yobuchopho izobheka ukuwohloka kwezicubu zobuchopho. Ukuhlolwa kwegazi kungenziwa ukuze kuhlolwe i-enzyme engekho noma ukubheka ukuguquguquka kwezakhi zofuzo okubangela lesi sifo.
Ukwelapha
Akukho ukwelashwa kwezifo zaseCanavan, ngakho ukwelashwa kugxile ekuphatheni izimpawu.
Ukwelapha ngokomzimba, emsebenzini, nokukhuluma kungasiza ingane ukuba ifinyelele ekuthuthukisweni kwayo. Ngenxa yokuthi isifo seCanavan siqhubeka sibi kakhulu, izingane eziningi ziyafa zisencane (ngaphambi kweminyaka engama-4), nakuba abanye bangase basinde eminyakeni yabo yeshumi nambili.
Ukuhlolwa kwe-Genetic
Ngo-1998, i-American College of Obstetricians kanye neGynecologists yamukela isitatimende sesikhundla esincoma ukuthi odokotela banikeze ukuhlolwa kweziphathimandla ze-Canavan isifo kubo bonke abantu base-Ashkenazi isizinda samaJuda. Umthumeli unekhophi eyodwa yezakhi zofuzo, ngakho-ke akayikuhlakulela lesi sifo kodwa angadlulisela izakhi zofuzo ezinganeni. Kulinganiselwa ukuthi abantu abangu-1 kwabangu-40 emphakathini wamaJuda ase-Ashkenazi bathwala isifo sezakhi ze-Canavan.
Kunconywa ukuthi imibhangqwana engozini yokuthwala isakhi sofuzo ihlolwe ngaphambi kokukhulelwa umntwana. Uma imiphumela yokuhlola ibonisa ukuthi bobabili abazali bangabathwali, umeluleki wezofuzo anganikeza ulwazi oluningi mayelana nengozi yokuba nengane enezifo ze-Canavan. Izinhlangano eziningi zamaJuda zinikeza ukuhlolwa kwezakhi zofuzo zeCanavan nezinye izifo ezingavamile e-United States, eCanada nase-Israel.
Imithombo:
> "Izifo ze-Canavan." Izinkinga A - Z. 2 Julayi 2008. Inhlangano Kazwelonke Yezinkinga Neurological and Stroke.
> "Izifo ze-Canavan." Izinhlobo ze-Leukodystrophy. 2 Aug 2007. I-United Leukodystrophy Foundation.
> "Iyini Izifo ZaseKhanavan?" Izifo. I-National-Tay Sachs & Allied Diseases Association.