ʻO ka maʻi o Gaucher kahi maʻi nuiʻole, e alakaʻi ana i ka hoʻonuiʻiaʻana i nāʻano kiko'ī (i loko o ke ake, a me ka iwi o ka iwi) o nā momona momona. ʻO ka manawa mua kēia iʻikeʻia ai kēia maʻi a ho'ākākaʻia e ke kauka Lepaʻo Philip Gaucher i ka makahiki 1882. Ua loaʻa iā ia nā pūnaewele maʻamau i loko o nā maʻi me ka'ālunu nui i hoʻonuiʻia, kahi i hoʻonuiʻia ai nā momona iʻikeʻoleʻia. Ma hope iho, ua hoʻomakaʻia ia mau pūnaepe e kapaʻiaʻo Kelepa Gaucher, a me ka maʻi,ʻo ia ka maʻi o Gaucher.
ʻO Lysosomal nā mea maʻi
ʻO nā maʻi Lysosomal (nā maʻi o ka hōʻiliʻili o lipids) he inoa maʻamau ia no nā maʻi leʻaleʻa e pili ana i ka hoʻohaunaeleʻana o kaʻokiʻana o nā mea. Ma muli o nā pōʻino a me ka hemahema o kekahi mau enzymes,ʻo kekahiʻano o lipids (e like me keʻano, glycogen, glycosaminoglycans)ʻaʻole e mahele aʻaʻole i weheʻia mai ke kino, akā e hōʻiliʻili i loko o nā pūnaewele.
Paʻaʻole nā maʻi Lysosomal. No laila,ʻo ka hapanui o nā mea a pau -ʻo ka maʻi Gaucher, loaʻa me ke alapine o 1: 40000. Hoʻokomoʻia ke alapine ma ka mea no ka mea he pilikino ka maʻi i nāʻano o keʻano hoʻomaha autosomal a ma kekahi mauʻaha pili e hiki ke hiki i 30 manawa pinepine.
ʻO ke kauʻana o ka maʻi o ka maʻi
ʻO kēia maʻi ma muli o kahi kīnā i loko o ka gene e pili ana i ka inoa o beta-glucocerebrosidase, he enzyme e hoʻonāukiuki i ka paleʻana o kekahi mau momona (glucocerebrosides). I nā kānaka me kēia maʻi,ʻaʻohe lawa ka enzyme pono, no ka meaʻaʻole eʻokiʻia nā momona, akā'ākoakoa i loko o nā pūnaewele.
Aiaʻekoluʻano o ka maʻi Gaucher:
- ʻO keʻano mua. ʻO keʻano haʻahaʻa aʻano pinepine. Ke hōʻikeʻia e ka ulu o ke kīʻahaʻole i ke koko, kahi liʻiliʻi iki o ke ake. ʻAʻohe pilikia i ka pūnaewele'ōpiopio.
- ʻO ka lua. Keʻano hana kūpono me ka poino kino kino. Hōʻike ia i keʻano ma ka'ōpiopio o ka wā'ōpiopio a pinepine ai i ka make.
- ʻO keʻano kolu. ʻO ka puka'ōpiopio liʻiliʻi. ʻO ka maʻamau i nā makahiki 2 ā 4 mau makahiki. Aia nā leona o ka pūnaeke hematopoietic (ka momona o ka iwi) a me ka liona'ākōkī o ka pūʻali koa.
Nā Symptoms of Gaucher Disease
I ka maʻi, e hoʻonui pinepineʻia nā pūnaewele Gaucher i nā'ōpū. ʻO ka mua, aia ka ulu o ka asymptomatic i ka'ōpū, a laila,ʻo ke ake, he mau maʻi i loko o nā iwi. Ma ka manawa lōʻihi, hiki ke hana i ka anemia , ka thrombocytopenia, ke koko manawaʻole. Ma nā maʻiʻelua a me 3 paha, e hoʻopiliʻia ka lolo a me nā'ōpiopio o ka pūnaewele holoʻokoʻa. I keʻano 3,ʻo kekahi o nā hōʻailonaʻoi loa o ka pōʻino i ka'ōpiopio o ka pūnaewele he mea ia e hōʻino ai i nā hana o ka maka.
ʻO ka hōʻoiaʻana o ka maʻi o Gaucher
Hiki ke hoʻomaopopoʻia ka maʻi Gaucher e ke kānikōleka o ka glucocerebrosidase gene. Eia naʻe, he paʻakikī a me ka uku kēiaʻano, no laila ua hoʻoiliʻia i nā mea koʻikoʻi, inā paʻakikī ka hōʻailona o ka maʻi. ʻO ka mea pinepine,ʻikeʻia kaʻikeʻana i kaʻikeʻia o nā pūnaewele Gaucher i loko o ka momona o ka iwi iwi a iʻole iʻole iʻole e hoʻonuiʻia ka'ōpū i loko o ka biopsy. Hiki ke hoʻohanaʻia ka radiography o nā iwi e hoʻomaopopo i nā maʻi kūlike e pili ana i kaʻeha o ka iwi.
Hana i ka maʻiʻo Gaucher
I kēia lā,ʻo ka mea pono wale nō e mālama ai i ka maʻi - keʻano o ke paniʻana i ka lāʻau me ka imiglucerase, kahi lāʻau lapaʻau e pani ana i ka enzyme i hala i ke kino. Hiki ke hoʻohaʻahaʻa a palekana paha i nā hopena o kaʻinoʻino o nā lala, e hoʻihoʻi i ka pilikino kūlohelohe. Hoʻohui i nā lāʻau lapaʻau
ʻO ka transplantation o ka momona o ka iwi a me nā kīʻaha pūpū e pili ana i kahi hōʻailona hōʻailona me kahi kiʻekiʻe o ka makeʻana o ke kino a hoʻohana waleʻia e like me ka hope hope inā loaʻaʻole kekahi mau hana lapaʻau.