Maʻi Canavan

ʻO ka maʻi Canavan kahi ʻano e pili ana i ka wāwahi ʻana o ke kino a hoʻohana i ka waikawa aspartic.

Hoʻoholo ʻia ka maʻi Canavan ma (hoʻoilina ʻia) e nā ʻohana. ʻOi aku ka maʻamau i waena o ka lehulehu Iudaio Ashkenazi ma mua o ka heluna lehulehu.

ʻO ka nele o ka enzyme aspartoacylase alakaʻi i kahi kūkulu o nā mea i kapa ʻia ʻo N-acetylaspartic acid i ka lolo. ʻO kēia ke kumu o ka haki ʻana o ka mea keʻokeʻo o ka lolo.

ʻElua ʻano o ka maʻi.

• Neonatal (pēpē) - ʻO kēia ka ʻano maʻamau. Kūleʻa nā ʻōuli. He mea maʻamau nā pēpē i nā mahina mua ma hope o ka hānau ʻana. Na 3 a 5 mau mahina, loaʻa iā lākou nā pilikia hoʻomohala, e like me nā mea i ʻōlelo ʻia ma lalo nei ma lalo o ka ʻāpana o nā hōʻailona o kēia ʻatikala.
• ʻO Juvenile - He ʻano liʻiliʻi kēia. Mālie nā ʻōuli. ʻOi aku ka paʻakikī o nā pilikia hoʻomohala ma mua o nā neonatal form. I kekahi mau hihia, akahai nā ʻōuli e hōʻike ʻole ʻia e like me ka maʻi Canavan.

Hoʻomaka pinepine nā ʻōuli i ka makahiki mua o ke ola. ʻIke nā mākua iā ia ke hiki ʻole kā lākou keiki i kekahi mau hanana ulu, e like me ka kaohi ʻana o ke poʻo.

ʻO nā hōʻailona me:

• ʻO ke kūlana maʻamau me nā lima flexed a me nā wāwae pololei
• Holo hou nā mea ʻai i ka ihu
• Nā pilikia hānai
• Hoʻonui i ka nui o ke poʻo
• Huhū
• Kahi leo maikaʻi ʻole, ʻoi aku hoʻi o nā ʻāʻī o ka ʻāʻī
• ʻO ka nele o ke kaohi poʻo ke huki ʻia ka pēpē mai kahi wahaheʻe i kahi noho
• Hōʻailona ʻike maka ʻole, a makapō paha
• Reflux me ka luaʻi
• Ka hopu ʻana i nā maʻi
• Kīnā koʻikoʻi koʻikoʻi
• Hoʻopau i nā pilikia

E hōʻike paha kahi hōʻike kino:

• Nā reflexes i hoʻonui ʻia
• ʻOʻoleʻa hui
• Ka nalowale o nā mea i ke aʻalolo optic o ka maka

ʻO nā hōʻoia no kēia ʻano:

• Ke kemika koko
• Kemika CSF
• ʻO ka hoʻāʻo genetic no ka aspartoacylase gen mutations
• Poʻomanaʻo CT poʻo
• Luna MRI scan
• Mimi a i ʻole ke kemika koko no ka acidart aspartic kiʻekiʻe
• Nānā DNA
  

ʻAʻole loaʻa kahi lapaʻau kūikawā. He mea nui ka mālama kākoʻo ʻana e hoʻomāmā ai i nā ʻōuli o ka maʻi. Ke aʻo ʻia nei ka līlī a me ka genotherapy.

Hiki i nā kumuwaiwai ke hāʻawi i ka ʻike hou aʻe e pili ana i ka maʻi Canavan:

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

Me ka maʻi Canavan, wāwahi ka ʻōnaehana waena. E maʻi kīnā paha ka poʻe.

ʻO ka poʻe me ka neonatal form ʻaʻole e ola ma mua o ka wā kamaliʻi. Noho kekahi mau keiki i ko lākou wā ʻōpio. ʻO ka poʻe me ke ʻano ʻōpio noho pinepine i kahi ola maʻamau.

Hoʻokumu kēia maʻi nay i nā kīnā koʻikoʻi e like me:

• Makapō
• Hiki ʻole ke hele wāwae
• Kīnā ʻole o ka noʻonoʻo

Kāhea i kāu kahu mālama ola inā loaʻa nā hōʻailona o kāu keiki o ka maʻi Canavan.

Paipai ʻia ka ʻōlelo aʻoaʻo genetic no ka poʻe makemake e hānau keiki a loaʻa ka moʻolelo ʻohana o ka maʻi Canavan. E noʻonoʻo pono ʻia nā ʻōlelo aʻoaʻo inā he kūʻauhau Iudaio nā mākua ʻelua. No kēia hui, hiki i ka hoʻāʻo ʻana iā DNA ke ʻaneʻane mau e haʻi inā he lawe nā mākua.

Hiki ke hana ʻia kahi hōʻailona ma mua o ka hānau ʻia ʻana o ka pēpē (prenatal diagnose) e ka hoʻāʻo ʻana i ka wai amniotic, ka wai e hoʻopuni ana i ka ʻōpū.

Spongy degeneration o ka lolo; Ka nele o Aspartoacylase; ʻO Canavan - maʻi van Bogaert

ʻO Elitt CM, Volpe JJ. Nā maʻi Degenerative o ka hānau hou. I: Volpe JJ, Inder TE, Darras BT, et al, eds. ʻO Volpe's Neurology o ke keiki hānau. ʻElua huaʻōlelo Piladelapia, PA: Elsevier; 2018: chap 29.

Matalon RK, Trapasso JM. Nā kīnā o ka metabolism o nā amino acid: N-acetylaspartic acid (maʻi Canavan). I: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds.ʻO Puka Textbook of Pediatrics ʻo Nelson. 21st ed. Piladelapia, PA: Elsevier; 2020: chap 103.15.

ʻO Vanderver A, ʻo Wolf NI. Nā maʻi genetic a me nā metabolic o ka mea keʻokeʻo. I: Swaiman KF, Ashwal S, Ferriero DM, et al, eds. ʻO Swaiman's Pediatric Neurology: Nā Kumuhana a me nā Hana. ʻElua huaʻōlelo Piladelapia, PA: Elsevier; 2017: chap 99.