Matšoao a bokooa a boithati
Maloetse a Canavan ke e 'ngoe ea mathata a liphatsa tsa lefutso a bitsoang leukodystrophies a bakang bokooa boemong ba myelin bo koahelang lisele tsa methapo bokong. Lefu la Canavan, phetoho ea liphatsa tsa lefutso ka chromosome 17 e baka ho hloka matla ha enzyme e bitsoang aspartoacylase. Ntle le enzyme ena, ho na le ho se leka-lekane ha lik'hemik'hale tse bakang tšenyo ea myelin bokong.
Sena se baka lisele tsa boko bo phetseng hantle hore li fetohe liphatsa tse nyenyane tse nang le libaka tse tletseng metsi.
Lefu la Canavan le futsitsoe ka mokhoa o motlakase oa boithaopo , e leng se bolelang hore ngoana o lokela ho rua phetolelo e le 'ngoe ea liphatsa tsa lefutso ho motsoali ka mong e le hore a hlahise lefu lena. Le hoja boloetse ba Canavan bo ka hlaha molokong ofe kapa ofe oa merabe, e atisa ho hlaha har'a Bajuda ba Ashkenazi ba tsoang Poland, Lithuania le Russia e bophirimela, le har'a Saudi Arabians.
Matšoao
Matšoao a lefu la Canavan a hlaha ho tloha boseeng 'me a mpefala ho feta nako. Li ka kenyelletsa:
- fokotseha molumo oa mesifa (hypotonia)
- mesifa ea mesifa e fokolang e baka ho laola hlooho
- hlooho e khōlō ka mokhoa o sa tloaelehang (macrocephaly)
- maoto a bolokiloe ka mokhoa o sa tloaelehang (hyperextension)
- mesifa ea matsoho e atisa ho fetoha
- tahlehelo ea tsebo ea motlakase
- ho lieha kelellong
- ho tsietsing
- bofofu
- ho fepa mathata
Tsejoa
Haeba matšoao a masea a bontša lefu la Canavan, ho ka etsoa liteko tse 'maloa ho netefatsa hore na lefu lena le fumanoa joang.
Setšoantšo sa computed tomography (CT) kapa setšoantšo sa magnetic resonance (MRI) sa boko se tla batla ho senyeha ha lisele tsa boko. Liteko tsa mali li ka etsoa ho hlahloba li-enzyme tse lahlehileng kapa ho sheba phetoho ea lefutso e bakang lefu lena.
Phekolo
Ha ho na pheko bakeng sa lefu la Canavan, kahoo phekolo e lebisa tlhokomelo ho laola matšoao.
Ho phekola, ho sebetsa, le ho bua ho ka thusa ngoana hore a fihlele bokhoni ba hae ba ntshetsopele. Hobane lefu la Canavan le ntse le mpefala butle-butle, bana ba bangata ba shoa ba sa le monyenyane (pele ba lilemo li 4), le hoja ba bang ba ka pholoha ho fihlela lilemong tsa bocha le mashome a mabeli.
Ho hlahlojoa ha liphatsa tsa lefutso
Ka 1998, Univesithi ea Amerika ea Bakuli ba Tšoaetso ea Lithethefatsi le Gynecologists e ile ea amohela polelo ea boemo bo khothalletsang hore lingaka li fane ka teko ea bakhanni bakeng sa lefu la Canavan ho batho bohle ba setso sa Bajuda ba Ashkenazi. Sesebelisoa se na le phetoho e le 'ngoe ea liphatsa tsa lefutso, kahoo ha a hlahise lefu lena empa a ka fetisetsa phetoho ea lefutso ho bana. Ho hakanngoa hore motho a le mong ho ba 40 ho Bajuda ba Ashkenazi o na le phetoho ea liphatsa tsa lefutso bakeng sa lefu la Canavan.
Ho khothalletsoa hore banyalani ba kotsing ea ho jara liphatsa tsa lefutso li fetolelitsoe pele ba emola lesea. Haeba liphetho tsa liteko li bontša hore batsoali ka bobeli ke bajari, moeletsi oa liphatsa tsa lefutso a ka fana ka tlhahisoleseding e eketsehileng ka kotsi ea ho ba le lesea le lefu la Canavan. Mekhatlo e mengata ea Bajuda e fana ka teko ea liphatsa tsa lefutso bakeng sa lefu la Canavan le mathata a mang a sa tloaelehang United States, Canada le Israel.
Lisebelisoa:
> "Mafu a Canavan." Mathata A - Z. 2 Phupu 2008. Mokhatlo oa Sechaba oa Mathata a Neurological le Stroke.
> "Mafu a Canavan." Mefuta ea Leukodystrophy. 2 Aug 2007. Mokhatlo oa Leukodystrophy Foundation.
> "Sefuba sa Canavan ke Eng?" Maloetse. Mokhatlo oa National-Tay Sachs & Allied Diseases.