He aha nā gangliosidosis, nā ʻōuli a me nā lāʻau

Anter

• Nā hōʻailona nui
• Pehea e hana ʻia ai ke kuhi
• Ka mālama ʻana i ka gangliosidosis

ʻO Gangliosidosis kahi maʻi maʻi laha ʻole i ʻike ʻia e ka hōʻemi a me ka ʻole o ka hana o ka beta-galactosidase enzyme, ʻo ia ke kuleana no ka hoʻohaʻahaʻa o nā mole mole paʻakikī, e alakaʻi ana i kā lākou hōʻiliʻili i ka lolo a me nā mea ʻē aʻe.

He koʻikoʻi loa kēia maʻi ke hōʻike ʻia i nā makahiki mua o ke ola a hana ʻia ka hōʻailona ma muli o nā ʻōuli a me nā ʻano i hōʻike ʻia e ke kanaka, a me nā hopena o nā hōʻike e hōʻike ana i ka hana o ka beta-galactosidase enzyme a me ke alo. o ka hoʻololi i ka gen GBL1, ʻo ia ke kuleana no ka hoʻoponopono ʻana i ka hana o kēia enzyme.

Nā hōʻailona nui

Kūlike nā ʻōuli o ka gangliosidosis e like me ka makahiki i ʻike ʻia ai, a noʻonoʻo ʻia ka maʻi ma mua o ka 20 a 30 mau makahiki o ka makahiki.

• ʻAno I a i ʻole ka gangliosidosis pēpē: Hōʻike nā ʻōuli ma mua o 6 mau makahiki o ka makahiki a ʻike ʻia e ka ʻōnaehana ʻōnaehana holomua holomua, ke kuli holomua a me ka makapō, nāwaliwali o nā mākala, ʻike i ka walaʻau, hoʻonui ʻia ka ake a me nā ʻāpala, ke kīnā ʻole o ka ʻike, ka helehelena nui a me nā loli puʻuwai. Ma muli o ka nui o nā ʻōuli i hiki ke hoʻomohala ʻia, ʻo kēia ʻano gangliosidosis i manaʻo ʻia ʻoi loa ke koʻikoʻi a me ke ola o 2 a 3 mau makahiki;
• ʻO Gangliosidosis ʻano II: Hiki ke hoʻokaʻawale ʻia kēia ʻano gangliosidosis ma ke ʻano he pēpē, ke ʻike ʻia nā ʻōuli ma waena o 1 a 3 mau makahiki, a i ʻole ʻōpio, ke puka lākou ma waena o 3 a 10 mau makahiki. ʻO nā ʻōuli nui o kēia ʻano gangliosidosis lohi a hoʻi ʻole i ka motika a me ka hoʻomohala ʻana o ka noʻonoʻo, atrophy o ka lolo a hoʻololi i ka hihiʻo. ʻO Gangliosidosis ʻano II i manaʻo ʻia he paʻakikī kaulike a me ka lōʻihi o ke ola ma waena o 5 a 10 mau makahiki;
• ʻO Gangliosidosis ʻano II a makua paha: Hiki ke ʻike ʻia nā hōʻailona mai 10 mau makahiki, ʻoiai ʻoi aku ka maʻamau ma waena o 20 a 30 mau makahiki, a ʻike ʻia e ka ʻāʻī ʻole ʻana o nā mākala a me nā loli i nā iwi o ka iwi kuamoʻo, a he hopena paha ke kyphosis a i ʻole scoliosis, no ka laʻana . Manaʻo ʻia kēia ʻano gangliosidosis he akahai, akā ʻokoʻa ke koʻikoʻi o nā ʻōuli e like me ka pae o ka hana o ka enzyme beta-galactosidase.

ʻO Gangliosidosis kahi maʻi genes recessive autosomal, ʻo ia hoʻi, no ke kanaka e hōʻike i ka maʻi, he mea pono nā mākua e lawe i ka gen mutated. No laila, aia kahi manawa 25% o ka mea i hānau ʻia me ka mutation i ka moʻokūʻauhau GBL1 a 50% o ke kanaka he lawe i ka ʻāpana.

Pehea e hana ʻia ai ke kuhi

Hana ʻia ka diagnostical o ka gangliosidosis e ke loiloi ʻana i nā ʻano maʻi i hōʻike ʻia e ke kanaka, e like me ka helehelena nui, hoʻonui ʻia ka ake a me nā ʻāpala, ka lohi o ka psychomotor a me nā loli ʻike maka, ʻo kahi laʻana, ʻoi aku ka pinepine o ka hōʻike ʻana i nā wā mua o ka maʻi.

Hoʻohui ʻia, lawe ʻia nā hoʻokolohua e kōkua i ka hōʻoia ʻana i ke kuhi, e like me nā kiʻi neurological, ka helu o ke koko, kahi e ʻike ʻia ai nā lymphocytes me nā vakuola, ka hoʻāʻo mimi, kahi e ʻike ʻia ai ke kiʻekiʻe kiʻekiʻe o nā oligosaccharides i ka mimi, a me ka genetic ka hoʻāʻo ʻana, ka mea e hōʻike ai i ka hoʻololi no ke ʻano o ka maʻi.

Hiki ke hana ʻia ke kuhi ma ka wā o ka hāpai ʻana ma o ka hoʻāʻo ʻana i nā genetics e hoʻohana ana i ka laʻana o ka villor chorionic a i ʻole nā ​​aʻa wai amniotic. Inā maikaʻi kēia hoʻokolohua, he mea nui e alakaʻi ʻia ka ʻohana e pili ana i nā hōʻailona e ulu ai ke keiki i ke ola holoʻokoʻa.

Ka mālama ʻana i ka gangliosidosis

Ma muli o ke alapine haʻahaʻa o kēia maʻi, a hiki i kēia manawa ʻaʻohe mālama maikaʻi, me nā ʻōuli e kaohi ʻia, e like me ka meaʻai kūpono, ka mālama ʻana i ka ulu, ka haʻi ʻōlelo a me ka physiotherapy e hoʻoulu ai i ka neʻe a me ka ʻōlelo.

Hoʻohui ʻia, hana ʻia nā hoʻokolohua wā maka a me ka nānā ʻana i ka makaʻu o nā maʻi a me nā maʻi puʻuwai.