Kanavan chirwere

Kanavan chirwere chirwere chinokanganisa kuparara kwemuviri uye kushandisa aspartic acid.

Kanavan chirwere chinopfuudzwa (chakagara nhaka) kuburikidza nemhuri. Izvo zvakajairika pakati peva Ashkenazi vechiJudha huwandu kupfuura huwandu hwevanhu.

Kushaikwa kweiyo enzyme aspartoacylase kunotungamira kune inovaka yezvinhu inonzi N-acetylaspartic acid muuropi. Izvi zvinokonzera kuti chena nyaya yehuropi iputsike.

Kune marudzi maviri echirwere:

• Neonatal (infantile) - Iyi ndiyo fomu yakajairika. Zviratidzo zvakakomba. Vacheche vanoratidzika kunge vakajairika mwedzi mishoma yekutanga mushure mekuberekwa. Pamwedzi mitatu kusvika mishanu, vane matambudziko ekukura, senge aya ataurwa pazasi pechikamu cheZviratidzo chechinyorwa chino.
• Vechidiki - Iyi fomu isiri yakajairika. Zviratidzo zvinyoro. Matambudziko ekuvandudza haana kunyanya kuomarara pane eiyo fomu rekuzvarwa. Mune zvimwe zviitiko, zviratidzo zvacho zvakapfava zvekuti zvinoenda zvisingawanikwe sechirwere cheCanavan.

Zviratidzo zvinowanzotanga mugore rekutanga rehupenyu. Vabereki vanowanzozviona kana mwana wavo asiri kusvika kune mamwe matanho anokosha, kusanganisira kudzora musoro.

Zviratidzo zvinosanganisira:

• Kusagadzikana kusarongeka nemaoko akachinjika uye makumbo akatwasuka
• Chikafu zvinhu zvinoyerera zvichidzokera mumhino
• Matambudziko ekudyisa
• Kuwedzera kukura kwemusoro
• Kushatirwa
• Yakashata tsandanyama toni, kunyanya yemutsipa mhasuru
• Kushomeka kwekudzora musoro kana mucheche adhonzwa kubva mukunyepa kuenda kunzvimbo yekugara
• Kutadza kuona zvakanaka, kana kupofomara
• Reflux nekurutsa
• Kufenda
• Kuremara kwakakomba kwepfungwa
• Kumedza matambudziko

Kuongorora kwepanyama kunogona kuratidza:

• Kuwedzeredza mafungiro
• Kuomarara kwakabatana
• Kurasikirwa kwetishu mumutsipa wemaziso weziso

Kuyedzwa kwechiitiko ichi kunosanganisira:

• Ropa kemisitiri
• CSF kemisitiri
• Genetic kuyedza kweaspartoacylase geni shanduko
• Musoro CT scan
• Musoro MRI scan
• Weti kana kemisitiri yeropa yeakakwira aspartic acid
• Ongororo yeDNA
  

Iko hakuna chaiwo marapirwo aripo. Kuchengetedza kwekutsigira kwakakosha kwazvo kudzikisira zviratidzo zvechirwere. Lithium uye kurapwa kwemajini kuri kuongororwa.

Izvi zvinotevera zviwanikwa zvinogona kupa rumwe ruzivo nezve chirwere cheCanavan:

• National Sangano reRare Dambudziko - rarediseases.org/rare-diseases/canavan-disease
• National Tay-Sachs & Yakabatana Zvirwere Association Association - www.ntsad.org/index.php/the-diseases/canavan

Nechirwere cheCanavan, iyo yepakati system system inoputsika. Vanhu vangangove vakaremara.

Ivo vane fomu yekuzvarwa kazhinji havagare kupfuura kwehudiki. Vamwe vana vanogona kurarama mukuyaruka kwavo. Ivo vane fomu yevechidiki vanowanzo rarama hupenyu hwakajairika.

Dambudziko iri kwete rinokonzera kuremara kwakadai se:

• Bofu
• Kusakwanisa kufamba
• Urema hwekuziva

Fonera wako mupi wezvehutano kana mwana wako aine chero zviratidzo zveCanavan chirwere.

Genetic counselling inokurudzirwa kune vanhu vanoda kuve nevana uye vane nhoroondo yemhuri yechirwere cheCanavan. Counselling inofanirwa kutariswa kana vese vabereki vari vedzinza reAshkenazi. Kune iri boka, kuyedzwa kweDNA kunogona kungogara kuchitaura kana vabereki vari vatakuri.

Kuongororwa kunogona kuitwa mwana asati azvarwa (prenatal diagnostic) nekuyedza iyo amniotic fluid, iyo mvura inotenderedza chibereko.

Kupera kwesiponji kwehuropi; Aspartoacylase kushomeka; Canavan - van Bogaert chirwere

Elitt CM, Volpe JJ. Degenerative kusagadzikana kweanenge achangozvarwa. Mune: Volpe JJ, Inder TE, Darras BT, et al, eds. Volpe's Neurology yeMucheche. 6th ed. Philadelphia, PA: Elsevier; 2018: chitsiko 29.

Matalon RK, Trapasso JM. Kukanganisa mune metabolism yemamino acids: N-acetylaspartic acid (chirwere cheCanavan). Mune: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds.Nelson Chinyorwa chePediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020: chits. 103.15.

Vanderver A, Wolf NI. Genetic uye metabolic kusagadzikana kweiyo chena nyaya. Mune: Swaiman KF, Ashwal S, Ferriero DM, et al, eds. Swaiman's Pediatric Neurology: Misimboti uye Maitiro. 6th ed. Philadelphia, PA: Elsevier; 2017: chits. 99.