Canavan faamaʻi

Canavan faamaʻi o se tulaga e aafia ai pe faʻafefea ona gagau le tino ma faʻaaoga le aspartic acid.

Canavan faamaʻi e pasi i lalo (tofi) e ala i aiga. E taatele i le faitau aofai o tagata Iutaia Ashkenazi nai lo le lautele o tagata.

O le le lava o le enzyme aspartoacylase e tau atu ai i le faaputuputuina o mea e taua o le N-acetylaspartic acid i le faiʻai. Lenei mafua ai le papaʻe mea o le faiai e malepe i lalo.

E lua ituaiga o faʻamaʻi:

• Fanau pepe (tamaititi) - Lenei o le sili ona taʻatele foliga. Faailoga e ogaoga. O pepe e foliga mai e masani ai i nai masina muamua talu ona fananau mai. I le 3 i le 5 masina, ua i ai a latou faʻafitauli tau atinaʻe, e pei o na o loʻo taua i lalo ifo o le Faʻailoga Faʻailoga o lenei tusitusiga.
• Tamaiti talavou - Ole mea lea e le masani ai tele. Faʻailoga e agamalu. O faʻafitauli tau atiaʻe e laʻititi ifo le ogaoga nai lo o pepe fou. I nisi tulaga, o faʻailoga e matua agamalu lava latou te le o faʻailoaina pei o Canavan faamaʻi.

Faʻailoga e masani ona amata i le muamua tausaga o le olaga. E matauina e matua le maitauina pe a le oʻo le la tama i ni mea taua na tutupu, e aofia ai ma le puleaina o le ulu.

Faʻailoga aofia ai:

• Tulaga masani e faʻasolosolo ona lima ma vae saʻo
• Meaʻai meaʻai tafe toe i totonu o le isu
• Fafagaina faʻafitauli
• Faateleina le lapoʻa o le ulu
• Ita
• Le lelei maso maso, aemaise lava o ua o maso
• Le lava le puleaina o le ulu pe a toso ese le pepe mai le pepelo ile tulaga nofo
• Le lelei vaʻai vaʻai, poʻo le tauaso
• Faʻalelei i le puaʻi
• Faoa faamalosi
• Ogaoga mafaufau
• Totoina faigata

E ono faʻaalia se suʻega faʻaletino:

• Faʻateleina reflexes
• Maʻaʻa soʻoga faʻatasi
• Leiloa o pepa solo i le neura mata o le mata

Suʻega mo lenei tulaga aofia ai:

• Toto kemisi
• Kemisi CSF
• Suʻesuʻega faʻafuaseʻi mo aspartoacylase gene mutations
• Ulu CT vaʻai
• Head scan MRI
• Mimi poʻo le kemisi toto mo maualuga aspartic acid
• DNA auiliiliga
  

E leai se faʻapitoa togafitiga e avanoa. E taua tele le tausiga lagolago e faʻafaigofie ai faʻailoga o le faʻamaʻi. O loʻo suʻesuʻeina le lithium ma le genotherapy.

O faʻamatalaga nei e mafai ona maua mai ai nisi faʻamatalaga e uiga i le faʻamaʻi Canavan:

• National Organization for Rare Disorder - rarediseases.org/rare-diseases/canavan-disease
• National Tay-Sachs & Allied Diseases Association - www.ntsad.org/index.php/the-diseases/canavan

Faatasi ai ma le faamaʻi Canavan, o le totonugalemu o le tino popole ua malepe. O tagata e ono ono le atoatoa.

O i latou e maua i le pepe fananau mai fomu masani ona le ola i tua atu o tamaiti. O nisi tamaiti e ono aulia o latou talavou. O i latou e iai tamaiti e masani ona ola i se olaga masani.

O lenei faʻaletonu nay mafua ai le atoatoa le atoatoa gafatia e pei o:

• Tauaso
• Le mafai ona savali
• Le atoatoa le malosi o le mafaufau

Valaʻau lau fomaʻi pe a fai o iai ni faʻailoga o lou maʻi Canavan.

O fautuaga faʻapitoa e fautuaina mo tagata e mananaʻo e fai ni fanau ma fai se tala faʻasolopito o le aiga i le faʻamaʻi o Canavan. Fautuaina e tatau ona mafaufau pe a fai o matua uma o Ashkenazi Iutaia tupuaga. Mo lenei kulupu, DNA suʻesuʻega e mafai ona toeititi lava iloa pe o matua o ni avega.

E mafai ona faia se faʻamaoniga ae e leʻi fanau mai le pepe (prenatal diagnose) i le faʻataʻitaʻia o le suavai amniotic, le suavai lea e faʻataʻamiloina le manava.

Spongy faʻaleagaina o le faiʻai; Le lava le Aspartoacylase; Canavan - van Bogaert faʻamaʻi

Elitt CM, Volpe JJ. Faʻaletonu faʻafitauli o le pepe fou. I: Volpe JJ, Inder TE, Darras BT, et al, eds. Volpe's Neurology o le Fanau Fou. 6th ed. Filatelefia, PA: Elsevier; 2018: mata 29.

Matalon RK, Trapasso JM. Faʻaletonu i metabolism o amino acids: N-acetylaspartic acid (Canavan faamaʻi). I le: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds.Nelson Tusitusiga o Pediatrics. 21 ed. Filatelefia, PA: Elsevier; 2020: chap 103.15.

Vanderver A, Wolf NI. Ole faʻafitauli paʻepaʻe ma faʻaleagaina o le mea papaʻe. I le: Swaiman KF, Ashwal S, Ferriero DM, et al, eds. Swaiman's Pediatric Neurology: Mataupu Faavae ma Faʻataʻitaʻiga. 6th ed. Filatelefia, PA: Elsevier; 2017: chap 99.