Ka maʻi o Wilson
He aha kēīa ?
ʻO ka maʻi o Wilson he maʻi hoʻoilina i hoʻoili ʻia e pale i ka hoʻopau ʻia ʻana o ke keleawe mai ke kino. ʻO ke kūkulu ʻana o ke keleawe i loko o ke ake a me ka lolo e hoʻopilikia ai i ka ate a i ʻole nā pilikia neurological. He haʻahaʻa loa ka laha o ka maʻi Wilson, ma kahi o 1 i 30 mau kānaka. (000) He lāʻau lapaʻau maikaʻi no kēia maʻi, akā pilikia kona ʻike mua ʻana no ka mea e noho mālie ana no ka manawa lōʻihi.
Ōuli
Hoʻomaka ka hana keleawe ma ka hānau ʻana, akā ʻaʻole ʻike pinepine ʻia nā hōʻailona mua o ka maʻi ʻo Wilson a hiki i ka wā ʻōpio a i ʻole ke kanaka makua. Hiki iā lākou ke ʻokoʻa loa no ka mea ua hoʻopilikia ʻia kekahi mau kino e ka hōʻiliʻili ʻana o ke keleawe: ka puʻuwai, nā puʻupaʻa, nā maka, ke koko… ʻO nā hōʻailona mua he hepatic a neurological paha i ʻekolu hapahā o nā hihia (40% a me 35% pakahi), akā hiki iā lākou ke ʻokoʻa. he psychiatric, renal, hematological a endocrinological. Pilikia loa ka ate a me ka lolo no ka mea, ua loaa maoli ia lakou ka nui o ke keleawe. (2)
- Nā maʻi o ka ate: jaundice, cirrhosis, hāʻule ʻole o ka ate ...
- Nā maʻi neurological: ke kaumaha, nā maʻi ʻano, nā pilikia aʻo, nā pilikia i ka hōʻike ʻana iā lākou iho, nā haʻalulu, nā ʻōpū a me nā contractures (dystonia) ...
ʻO ke apo Keyser-Fleisher e hoʻopuni ana i ka iris ke ʻano o ke kūkulu ʻana o ke keleawe ma ka maka. Ma waho aʻe o kēia mau hōʻailona koʻikoʻi, hiki i ka maʻi Wilson ke hōʻike mai me nā hōʻailona like ʻole, e like me ka luhi nui, ka ʻeha ʻōpū, ka luaʻi a me ka pohō kaumaha, ka anemia, a me ka ʻeha hui.
Nā kumu o ka maʻi
Ma ke kumu o ka ma'i o Wilson, aia ka mutation o ka ATP7B gene i loa'a ma ka chromosome 13, i komo i ka metabolism o ke keleawe. Mālama ʻo ia i ka hana ʻana o kahi protein ATPase 2 e pāʻani ana i ka lawe ʻana i ke keleawe mai ke ake a i nā wahi ʻē aʻe o ke kino. He mea pono ke keleawe no ka nui o na hana keena, aka, i ka nui o ke keleawe, lilo ia i mea make a poino i na kino a me na kino.
Nā mea pilikino
ʻO ka lawe ʻana i ka maʻi Wilson he autosomal recessive. No laila pono e loaʻa i ʻelua kope o ka gene mutated (mai ka makua kāne a me ka makuahine) e hoʻomohala i ka maʻi. ʻO ia ke ʻano o ka ʻike like ʻana o nā kāne a me nā wahine a ʻo nā mākua ʻelua e lawe ana i ke ʻano mutated akā ʻaʻole maʻi ka pilikia i ʻehā i kēlā me kēia hānau ʻana o ka lawe ʻana i ka maʻi.
Kāohi a me ka lapaʻau
Aia kekahi lāʻau lapaʻau maikaʻi e hoʻōki i ka holomua o ka maʻi a hōʻemi a hoʻopau paha i kāna mau hōʻailona. Pono nō hoʻi e hoʻomaka koke ʻia, akā e lawe pinepine ʻia i nā mahina he nui ma hope o ka hoʻomaka ʻana o nā hōʻailona e hōʻoia i kēia maʻi leo leo, ʻaʻole i ʻike nui ʻia a ʻike ʻia nā hōʻailona i nā maʻi ʻē aʻe he nui (hepatitis nona ka pōʻino o ke ake a me ke kaumaha no ke komo ʻana o ka psychiatric). .
ʻO ka mālama "chelating" e hiki ai ke huki i ke keleawe a hoʻopau iā ia i loko o ka mimi, no laila e kaupalena ʻia kona hōʻiliʻili ʻana i loko o nā kino. Hoʻokumu ʻia ia ma D-penicillamine a i ʻole Trientine, nā lāʻau i lawe ʻia e ka waha. He hopena maikaʻi lākou, akā hiki ke hoʻoulu i nā hopena koʻikoʻi (pōʻino i ka puʻuwai, nā hopena maʻi, etc.). Ke koʻikoʻi loa kēia mau hopena ʻaoʻao, hoʻohana mākou i ka hoʻokele zinc e kaupalena i ka komo ʻana o ke keleawe e nā ʻōpū.
Pono paha ka hoʻololi ʻana o ke ake i ka wā i poino loa ai ke akepaʻa, ʻo ia ka hihia no 5% o ka poʻe me ka maʻi Wilson (1).
Hāʻawi ʻia kahi hoʻāʻo hōʻike genetic i nā kaikunāne o kahi mea maʻi. Hāʻawi ia i kahi lapaʻau pale kūpono inā ʻike ʻia kahi ʻano ʻino i loko o ka gene ATP7B.