Maʻi ʻo Tay-Sachs

ʻO ka maʻi Tay-Sachs kahi maʻi hoʻoweliweli o ke ʻōnaehana i hoʻoili ʻia e nā ʻohana.

Hana ʻia ka maʻi Tay-Sachs ke nele ke kino i ka hexosaminidase A. He protein ia e kōkua ai e wāwahi i kahi hui o nā kemika i loaʻa i nā aʻa nerve i kapa ʻia ʻo gangliosides. Me ka ʻole o kēia protein, nā gangliosides, ʻo ka ganglioside GM2, kūkulu i loko o nā hunaola, pinepine nā pūnana nerve i ka lolo.

Hoʻokumu ʻia ka maʻi Tay-Sachs e kahi ʻāpana hemahema ma chromosome 15. Ke hāpai nā mākua ʻelua i ka ʻāpana Tay-Sachs hemahema, he 25% ka manawa kūpono o ke keiki e ulu i ka maʻi. Pono e loaʻa i ke keiki ʻelua kope o ka ʻāpana hemahema, hoʻokahi mai kēlā me kēia makua, i mea e maʻi ai. Inā hele wale kekahi makua i ka ʻāpana hemahema i ke keiki, kapa ʻia ke keiki he lawe. ʻAʻole lākou e maʻi, akā hiki ke hoʻoili i ka maʻi i kā lākou keiki ponoʻī.

Hiki i kekahi ke lawe i Tay-Sachs. Akā, maʻamau ka maʻi i waena o ka lehulehu Iudaio Ashkenazi. ʻO kekahi o kēlā me kēia lālā 27 o ka heluna kanaka e hāpai i ka moʻokūʻauhau Tay-Sachs.

Māhele ʻia ʻo Tay-Sachs i loko o nā pēpē, ʻōpio, a me nā ʻano mākua, kaukaʻi ʻia i nā ʻōuli a i ka wā e puka mua ai. ʻO ka hapa nui o ka poʻe me Tay-Sachs i loaʻa ke ʻano pēpē. I kēia ʻano, hoʻomaka pinepine ka hōʻino aʻa ke ʻoiai ka pēpē i loko o ka ʻōpū. ʻIke ʻia nā ʻōuli ma ke ʻano he 3 a 6 mau makahiki o ke keiki. Maikaʻi koke ka maʻi, a make pinepine ke keiki e ka makahiki 4 a i ʻole 5.

ʻO ka maʻi ʻo Tay-Sachs ka hopena o ka hopena, ka mea e hoʻopili ai i nā mākua, kākaʻikahi loa ia.

Pākuʻi ʻia paha nā ʻōuli i kekahi o kēia mau mea:

• Kuli ke kuli
• ʻO ka hōʻemi maka ʻana, makapō
• Hoʻoemi i ke kani o ka mākala (ka nalowale o ka ikaika o nā mākala), ka nalo ʻana o ka mākau kaʻa, ka palapū
• Hoʻonui lohi a hoʻolohi i ka mākau a me ka ʻike kaiaulu
• Dementia (nalo o ka hana lolo)
• Hoʻonui i ka hopena hoʻomaka
• Huhū
• Palapala ʻole
• Ka hopu ʻana i nā maʻi

E nānā ka mea mālama ola i ka pēpē a nīnau e pili ana i ka mōʻaukala o kou ʻohana. ʻO nā hoʻāʻo e hana ʻia paha:

• ʻO ka hoʻokolohua enzyme o ke koko a i ʻole ke kino no nā pae hexosaminidase
• ʻIke maka (hōʻike i kahi cherry-ʻulaʻula i ka macula)

ʻAʻohe lāʻau lapaʻau no ka maʻi Tay-Sachs ponoʻī, nā ala wale nō e hōʻoluʻolu ai i ke kanaka.

Hiki ke hoʻomāmā ʻia ke koʻikoʻi o ka maʻi ma ke komo ʻana i nā hui kākoʻo nāna nā lālā e kaʻana like i nā ʻike a me nā pilikia. Hiki i nā hui aʻe ke hāʻawi i ka ʻike hou aku e pili ana i ka maʻi Tay-Sachs:

• National Organization for Rare Disorder - rarediseases.org/rare-diseases/tay-sachs-disease
• ʻO National Tay-Sachs a me Allied Diseases Association - www.ntsad.org
• NLM Genetics Home Reference - ghr.nlm.nih.gov/condition/tay-sachs-disease

Loaʻa nā keiki me kēia maʻi i nā ʻōuli e ʻoi aku ka maikaʻi ma mua o ka manawa. Make pinepine lākou i ka makahiki 4 a 5 paha.

Hōʻike nā ʻōuli i ka 3 a 10 mau mahina o ke ola a me ka holomua i ka spasticity, ka hopu ʻana, a me ka nalo ʻana o nā neʻe manawaleʻa āpau.

E hele i ka lumi pilikia a kāhea paha i ka helu pilikia kūloko (e like me 911) inā:

• Loaʻa i kāu keiki ke kaʻe o ka kumu maopopo ʻole
• ʻOkoʻa ka hopu ʻana i ka hopu ʻana ma mua
• Pilikia ke keiki i ka hanu ʻana
• ʻOi aku ka lōʻihi o ka hopu ʻana ma mua o 2 a 3 mau minuke

Kāhea i kahi hālāwai me kāu mea hāʻawi inā loaʻa i kāu keiki nā loli kolohe ʻē aʻe i ʻike ʻia.

ʻAʻohe ala i ʻike ʻia e pale ai i kēia maʻi. Hiki i nā hoʻāʻo genetic ke ʻike inā he lawe ʻoe i ka ʻohana no kēia maʻi. Inā ʻoe a ʻo kāu hoa paha mai kahi makaʻu makaʻu, makemake paha ʻoe e ʻimi i nā ʻōlelo aʻoaʻo kūpuna ma mua o ka hoʻomaka ʻana i kahi ʻohana.

Inā ua hāpai ʻoe, e hoʻāʻo ana i ka wai amniotic hiki ke hōʻoia i ka maʻi Tay-Sachs i ka ʻōpū.

GM2 gangliosidosis - Tay-Sachs; Lysosomal maʻi maʻi - Tay-Sachs maʻi

• ʻŌnaehana ʻōnaehana waena a me ka ʻōnaehana ʻōnaehana peripheral

Kwon JM. Nā maʻi Neurodegenerative o ka wā kamaliʻi. I: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, eds. ʻO Puka Textbook of Pediatrics ʻo Nelson. 20 ouk. Piladelapia, PA: Elsevier; 2016: chap 599.

Nussbaum RL, McInnes RR, Willard HF. ʻO ka mole mole, biochemical, a me ke kumu paʻa pūnaewele o ka maʻi maʻi. I: Nussbaum RL, McInnes RR, Willard HF, hua. ʻO Thompson lāua ʻo Thompson Genetics i ka Lapaʻau. 8th ed. Piladelapia, PA: Elsevier; 2016: chap 12.

ʻO Wapner RJ, Dugoff L. Palapala Prenatal o nā maʻi kūlohelohe. I: Resnik R, Lockwood CJ, Moore TR, Greene MF, Copel JA, Silver RM, eds. ʻO Medicine a Maternal-Fetal a Creasy a me Resnik: Nā Manaʻo a me ka Hoʻomeheu. 8th ed. Piladelapia, PA: Elsevier; 2019: chap 32.