Boloetse ba Canavan

Boloetse ba "vanvan "ke boemo bo amang 'mele le ho sebelisa aspartic acid.

Lefu la Canavan le fetisoa (le futsitsoe) ke malapa. E atile haholo hara Bajode ba Ashkenazi ho feta ho sechaba ka kakaretso.

Ho haella ha enzyme aspartoacylase ho lebisa tlhokomelong ea thepa e bitsoang N-acetylaspartic acid bokong. Sena se etsa hore taba e tšoeu ea boko e robehe.

Ho na le mefuta e 'meli ea lefu lena:

• Neonatal (lesea) - Ena ke mofuta o tloaelehileng haholo. Matšoao a matla haholo. Masea a bonahala a tloaelehile likhoeling tse 'maloa tsa pele ka mor'a ho hlaha. Ka likhoeli tse 3 ho isa ho tse 5, ba na le mathata a kholo, joalo ka a boletsoeng ka tlase tlasa karolo ea Matšoao a sengoloa sena.
• Bacha - Ena ke mokhoa o sa tloaelehang haholo. Matšoao a bonolo. Mathata a nts'etsopele ha a boima haholo ho feta a mofuta oa bokhachane. Maemong a mang, matšoao a bonolo hoo a sa tsejoeng e le lefu la Canavan.

Matšoao hangata a qala selemong sa pele sa bophelo. Batsoali ba tloaetse ho e hlokomela ha ngoana oa bona a sa fihlelle lintlha tsa bohlokoa tsa kholo, ho kenyeletsoa taolo ea hlooho.

Matšoao a kenyelletsa:

• Boemo bo sa tloaelehang bo nang le matsoho le maoto a otlolohileng
• Lisebelisoa tsa lijo li khutlela ka nko
• Mathata a ho fepa
• Ho eketsa boholo ba hlooho
• Ho teneha
• Molumo o fosahetseng oa mesifa, haholo-holo mesifa ea molala
• Ho hloka taolo ea hlooho ha lesea le huloa ho tloha leshanong ho ea boemong ba ho lula
• Ho latela pono e fosahetseng, kapa bofofu
• Reflux ka ho hlatsa
• Ho oa
• Bokooa bo matla ba kelello
• Ho metsa mathata

Tlhahlobo ea 'mele e ka bonts'a:

• Maikutlo a feteleditsweng
• Ho satalla ho kopaneng
• Ho lahleheloa ke lisele ka har'a methapo ea mahlo ea leihlo

Liteko tsa boemo bona li kenyelletsa:

• Khemistri ea mali
• Khemistri ea CSF
• Ho etsa liteko tsa liphatsa tsa lefutso bakeng sa liphetoho tsa lefutso tsa aspartoacylase
• Hlooho ea CT scan
• Hlooho ea MRI ea hlooho
• Urine kapa chemistry ea mali bakeng sa aspartic acid e phahameng
• Tlhahlobo ea DNA
  

Ha ho na kalafo e khethehileng e fumanehang. Tlhokomelo ea tšehetso e bohlokoa haholo ho fokotsa matšoao a lefu lena. Ho ntse ho ithutoa kalafo ea lithium le liphatsa tsa lefutso.

Lisebelisoa tse latelang li ka fana ka tlhaiso-leseling e batsi ka lefu la Canavan:

• Mokhatlo oa Naha oa Mathata a Rare - rarediseases.org/rare-diseases/canavan-disease
• Mokhatlo oa Naha oa Tay-Sachs le Selekane sa Mafu a Kopaneng - www.ntsad.org/index.php/the-diseases/canavan

Le lefu la Canavan, sistimi ea methapo e bohareng ea robeha. Batho ba kanna ba holofala.

Ba nang le foromo ea bokhachane hangata ha ba phele ho feta bongoana. Bana ba bang ba ka phela ho fihlela lilemong tsa bocha. Ba nang le mofuta oa bocha hangata ba phela nako e tloaelehileng ea bophelo.

Boloetse bona ha bo bake ho holofala ho matla joalo ka:

• Bofofu
• Ho hloleha ho tsamaya
• Bokooa ba kelello

Bitsa mofani oa tlhokomelo ea bophelo haeba ngoana oa hau a na le matšoao a lefu la Kanavan.

Ho eletsoa batho ba batlang ho ba le bana le ho ba le nalane ea malapa ea lefu la Kanavan. Tlhabollo e lokela ho tsotelloa haeba batsoali ka bobeli e le ba leloko la Ashkenazi. Bakeng sa sehlopha sena, liteko tsa DNA li ka lula li tseba hore na batsoali ke bajari.

Tlhahlobo e ka etsoa pele lesea le hlaha (tlhahlobo ea bakhachane) ka ho hlahloba mokelikeli oa amniotic, mokelikeli o potileng popelo.

Ho senyeha ha seponche bokong; Khaello ea Aspartoacylase; Canavan - lefu la van Bogaert

Elitt CM, Volpe JJ. Mathata a fokolang a lesea le sa tsoa tsoaloa. Ka: Volpe JJ, Inder TE, Darras BT, et al, li-eds. Neurology ea Volpe ea lesea le sa tsoa tsoaloa. La 6th. Philadelphia, PA: Elsevier; 2018: khaolo ea 29.

Matalon RK, Trapasso JM. Liphoso tsa metabolism ea li-amino acid: N-acetylaspartic acid (lefu la Canavan). Ka: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, bahlophisi.Buka ea Nelson ea Pediatrics. La 21 Ed. Philadelphia, PA: Elsevier; 2020: khaolo ea 103.15.

Vanderver A, Phiri NI. Mathata a liphatsa tsa lefutso le metabolism a taba e tšoeu. Ka: Swaiman KF, Ashwal S, Ferriero DM, et al, eds. Swaiman's Pediatric Neurology: Melao-motheo le Tloaelo. La 6th. Philadelphia, PA: Elsevier; 2017: khaolo ea 99.