Wilson ka maʻi: mea, lalau mai, symptoms, ohe. A me ka lapaʻau '

Wilson ka maʻi (hepatolenticular degeneration, Wilson maʻi pale - Konovalov) - pohihihi keia aaiaoe kāna hana i ua pili me ka hihia hoʻi keleawe pūnao i loko o ke kino, a ua hele pu me ia e ake a me ka Central ko mākou hopohopo kahua.

No ka mea manawa mua kēia mau symptoms i hoʻopaʻa 'ia ma 1883. Hoike ana mai o ka maʻi e like me na symptoms o mau sclerosis, no laila, i ka manawa i ka maʻi, ua kapaia "psevdosklerozom". Hohonu like o keia pilikia hoʻoikaika i English neuroscientist Samuel Wilson, kokoke e pau loa ia mea i loko o ka makahiki 1912 i ho'ākāka 'ia i ka? Aaieou maʻi.

Wilson ka maʻi: 'ehaʻeha ka

I oleloia, i kēia maʻi mea aaiaoe, a ua hala aku mai ka makua i ke keiki i loko o ka autosomal recessive ano. Kue o ke keleawe pūnao hālāwai hoʻolohe i ka mutation o ka'ōewe aia i loko o ka lima lōʻihi o chromosome umikumamakolu. He kēia'ōewe encodes he kumuʻiʻo kekahi 'ano o ATPase, i mea kuleana no ka amo ana i ke keleawe a me kona incorporation i loko o ceruloplasmin.

Ke kumu no ka mea mutations ka mea,ʻaʻole i maopopo hoomaopopo. Mākou hiki wale i aku nei au ia Wilson ka maʻi ua diagnosed hou pinepine i waena o nā lāhui kanaka kahi i ka na mare ma waena o pili hoahanau. Eia hou, i kēia maʻi pale ua oi pinepine diagnosed i waena o nā kānaka a me nā keiki, kona mau makahiki i papa koa mai ka 15 a hiki i 25 makahiki.

Wilson ka maʻi: i ka papa kuhikuhiE symptoms

I ka maʻi i hoike mai ai ia ia iho ma naʻano likeʻole. E like me ka hopena o metabolic keleawe accumulates i loko o ke kino o ke kanaka, ke'ī mai ka heluna i ke ake a me ka lenticular nuclei diencephalon.

Ma nā mea maʻi, i ka maʻi ke hoike wale kekahi akepaʻa a me neurological symptoms. I kekahi manawa, he mea i eha ma na ami, kiʻekiʻe kuni, a me ke kino aches. Hoʻomāhuahua o ke keleawe ma manawa inā haʻalele untreated ke alakai i ka cirrhosis. Ma kekahi mau hihia, o ka mua hoikeia neurological symptoms - loli ma ka hana a me ka 'ehaʻeha o ka moku'āina, e like me tremors. Eia naʻe, he pinepine symptoms o ka maʻi i ike i hoikeana o ka adolescence.

Untreated keleawe accumulates i loko o ke kino e alakai i ka olalo i kāna hana, a me mimikō, aneurysms, atherosclerosis, a me rickets.

Wilson ka maʻi - Konovalova:ʻike,

ʻike, o keia maʻi pono pono nā koko kemika. Ma keʻena hoʻokolohua ikea ai o ke koko hāpana uku mau noonoo ana i ke kiʻekiʻe o ke keleawe: i ke koko ia ponizhet like a pau solute nā lātoma loaa i loko o nā nā'aʻaʻa. I kekahi manawa ia mea e pono ai a me ka ake biopsy. Ma ke ao Eia kekahi laʻana o ka akepaʻa'aʻaʻa e hooholo loa nui o ke keleawe.

Aia o kekahi mea nui PalekanaEND_LINK wahi. I ka nana aku la au, mai o nā maka o nā mea maʻi ma luna o ka cornea ke ike i ka brownish apo - he he symptom o ka ai-i kapaia o Kaiser - Fleischer.

Wilson ka maʻi - Konovalova: lapaʻau

I ka lā, ka mea wale pono ka lapaʻau mea kuprenil, ma ke kumu o ka a ua hana i ka na ai '. Kēia waiwai ho'ēmi i kā ke keleawe pae i loko o ke kino, a lawe ia no. Pakele o ka maʻi,ʻaʻole e hiki mau loa. Akā, i kēia Inc e leie aku nā mea maʻi e alakaʻi i ka maʻamau,ʻeleu ola.

Eia naʻe, inā Wilson ka maʻi ua 'akomi i ka hohono ilio, ai ka pōʻino ma ka kino, ka oi aku o ka'emi'aʻaʻa ua irreversible. He nolaila, nui manawa e diagnose i ka maʻi, a hoʻomaka lapaau.