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ʻO Cystic fibrosis (cystic fibrosis)
La nā microsic fibrosis, aia maanei maʻi maʻi genetika ka mea pinepine. ʻO nā hiʻohiʻona nui e pili ana i ka hanu a me ka digestive tract akā aneane hiki ke hoʻopili ʻia nā ʻāpana āpau. Hōʻike pinepine ʻia nā hōʻailona i ka wā kamaliʻi a ʻokoʻa ke koʻikoʻi o kēlā me kēia kanaka. ʻO kēia maʻi ke kumu a nui ka ʻūhū i huna ʻia e nā mucous membrane o nā sinuses, bronchi, ʻōpū, pancreas, ate a me ka ʻōnaehana hānau (e nānā i ke kiʻi).
ka ka umauma ʻo ia ka mea i hoʻopilikia pinepine ʻia. ʻO ka mānoanoa, huna huna e ālai i ka bronchi, e paʻakikī ai ka hanu. Eia kekahi, ʻo ka mucus e hōʻiliʻili ana i loko o ka māmā e kōkua i ka ulu ʻana o nā germs. No laila, ʻoi aku ka pilikia o ka poʻe me ka cystic fibrosis i ka loaʻa pinepine ʻana o ka maʻi hanu.
La nā microsic fibrosis pili pū i ka 'ōnaehana hoʻomehana. Hoʻopaʻa ka mucus i nā ʻāpana lahilahi o ka pancreas, e pale ana i nā enzyme digestive i hana ʻia e ka pancreas mai ke komo ʻana i ka ʻōpū a hoʻokō i kā lākou hana. ʻOiai ʻo ka ʻai ʻana i kahi hapa wale nō, ʻoi aku ka nui o nā momona a me kekahi mau huaora, hiki mai nā hemahema nui. Hiki iā lākou ke hāʻawi i kahi hoʻoulu ulu.
He hopena koʻikoʻi ko ka maʻi ma ke ake a me nā ʻāpana hānau, e hopena pinepine i ka subfertility i nā wahine a infertility i na kanaka pili.
Mahalo a i ʻike mua a ʻoi aku ka maikaʻi o ka mālama ʻana,ola ola a ke hoʻomau nei ka maikaʻi o ke ola o ka poʻe i hoʻopilikia ʻia i nā makahiki i hala aku nei, ʻoiai ʻo nā lāʻau lapaʻau hou, i kuhikuhi ʻia i ka genetic anomaly, e hoʻomaka ana e puka mai a e hoʻololi i ka hoʻokele o nā maʻi i ka manawa waena. .
ʻO ke kuhikuhina
La nā microsic fibrosis no ka maʻi maʻi genetika ka mea maʻamau ma Farani me kahi kokoke i 6000 poʻe i hoʻopilikia ʻia1.. Hoʻokahi o nā keiki hānau hou 4 i loaʻa i kēia maʻi. ʻOi aku ka kakaikahi ma waena o nā ʻeleʻele (000 i ka 1) a me nā Hikina (13 i 000). Hoʻopilikia ia i nā kāne a me nā wahine. ʻO ka heluna kanaka o ke komohana o Farani ka mea i pilikia loa.
La nā microsic fibrosis no ka maʻi maʻi genetika ka maʻi koʻikoʻi maʻamau ma Kanada. Hoʻokahi o 3 keiki hānau hou i hoʻopilikia ʻia1. ʻOi aku ka maʻamau o ka cystic fibrosis Hawaii ma mua o ke koena o Kanada: 3 Canadians i hoʻopilikia ʻia, me 500 Quebecers.
Nā kumu
La nā microsic fibrosis Ua wehewehe mua ʻia i ka makahiki 1936 e Dr ʻO Guido Fanconi, he kauka lapaʻau Swiss. ʻO ka gene kuleana, i kapa ʻia ʻo CFTR (no ka "Cystic Fibrosis Transmembrane conductance Regulator"), ʻaʻole i ʻike ʻia a hiki i 1989 e nā mea noiʻi Kanada. I ka poe mai, keia ka gene is ʻanoʻino ('ōlelo mākou ua hoʻololiʻiaʻo ia). ʻO ia ke kuleana no ka synthesis o kahi kahawai chlorine e hiki ai ke hoʻoponopono i ka hydration o ka mucus. I ka hopena o kahi abnormality i ka CFTR gene, ka kemu mānoanoa loa ka huahana a ʻaʻole kahe maʻamau. ʻOi aku ma mua o 1 mau hoʻololi like ʻole i ka gene CFTR i pili i ka cystic fibrosis i ʻike ʻia2, 3,4. Hoʻokaʻawale ʻia lākou i 6 mau papa e like me ke ʻano o ka dysfunction2ʻO kēia mau hoʻololi ʻana, ʻo ka Delta F508 mutation, i loaʻa ma 81% o nā poʻe i hoʻopilikia ʻia ma Farani, ʻo ia ka mea maʻamau.
ʻAʻole he maʻi lele ka Cystic fibrosis. Ka poe nona nā hoʻololi pathogenic o ka CFTR gene e hoʻomohala i ka maʻi ma hope a ma hope aku akā i nā pae like ʻole o ka paʻakikī.
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ʻO ka maʻamau, ʻike ʻia ka cystic fibrosis i ka makahiki mua o ke ola no ka mea ʻōuli hanu puka koke mai. Ma 90% o nā hihia, ʻike ʻia ka maʻi ma mua o 10 mau makahiki.
No ka hōʻoia ʻana i ka ʻike, hana ke kauka a hoao hou (a i ʻole ka hoʻāʻo hou ʻana). ʻOiaʻiʻo, ʻoi aku ka nui o ka hou o ka poʻe me ka cystic fibrosis paʻakai paʻakai (2 a 5 mau manawa ʻoi aʻe ma mua o ka maʻamau). ʻO ka nā hoʻāʻo genetic e ʻae i ka ʻike pololei ʻana i nā mea ʻino i ka gene CFTR. Pono lākou no ka noʻonoʻo ʻana i nā lāʻau lapaʻau.
Ma Palani, ua nānā ʻia ka cystic fibrosis i nā keiki hānau hou mai ka makahiki 20025. Ua hōʻike ʻia ʻo ka hoʻomaʻamaʻa mua ʻana e hoʻomaikaʻi i ka maikaʻi o ke ola a me ka manaʻolana o ke ola o nā keiki i pili. hānau hānau. ʻAʻole hāʻawi ka hōʻike i kahi maʻi maʻamau akā e hōʻoia ʻia a hōʻole ʻia paha e nā hoʻokolohua ʻē aʻe (ka hoʻāʻo ʻana i ka hou, ka ʻike genetic).
Ma Quebec, ʻaʻohe hōʻike ʻōnaehana o keia mai. Eia nō naʻe, ke kāhea nei ka Canadian Cystic Fibrosis Foundation, i kākoʻo ʻia e kekahi mau kauka, no ka hoʻokō ʻana i ka nānā ʻana i nā keiki hou no kekahi mau makahiki. Ua hōʻike ʻia ka ʻike mua ʻana e hoʻomaikaʻi i ka maikaʻi o ke ola a me ke ola o nā keiki i hoʻopilikia ʻia.
ʻO ke kaliʻana o ke ola
Ma nā 1960s, kaola ola ʻO nā keiki me ka cystic fibrosis ʻaʻole iʻoi aku ma mua o 5 mau makahiki. I kēia mau lā, e like me ka ʻikepili hou loa, ʻo ka makahiki median ola ola he 47 mau makahiki1. nā maʻi hanu noho mau ke kumu o ka make.
Nā pilikia pinepine
ʻO ka cystic fibrosis kahi maʻi e hoʻopōʻino mālie i ka māmā, ka pancreas, a me ka ate. ka ka mālama kino ʻana Eia naʻe, kōkua ia e hōʻemi i ka paʻakikī a me ka pinepine o nā pilikia.
ka pilikia hanu ʻO ka maʻi maʻamau, me ka dilation o ka bronchi, e hoʻoulu ai i ka bronchitis, ka maʻi maʻi me ka hana hou. Aia kekahi mau manawa o ka hoʻonui ʻana i nā hōʻailona hanu, ke "congested" nā mea maʻi, ʻoi aku ka hanu, nalowale ke kaumaha, pinepine ma muli o ka maʻi. ʻO ka pōʻino o ka hanu hiki ke hoʻoweliweli i ke ola.
E pili ana i ka 'ōnaehana hoʻomehana, ke keakea o na auwai bile e hiki ai ke kahe ka bile i loko o ka digestive tract hiki ke alakai i ka cirrhosis o ke ake. Obstruction and progressive sclerosis o ka pancreas, hiki ke kumu i ka malabsorption nutrient a me ka ulu ʻana o ka maʻi diabetes. Ke alakaʻi pinepine nei kēia mau maʻi i nā hemahema kaiʻai ʻinoʻino a me ka maʻi maʻi maʻi mau. Ma keʻano laulā, hiki ke hoʻoponoponoʻia nā hemahema e kahi meaʻai kūikawā. ʻO ka mea ʻē aʻe, hiki ke kū mai ka constipation nui, a i ʻole ke keʻakeʻa ʻana o ka ʻōpū.
ʻO ka maʻamau, hiki mai ka wā ʻōpio ma hope o nā keikikāne a me nā kaikamahine me ka cystic fibrosis. ʻO ka hope, ʻo ka ʻo ka momona ua emi iho, oi loa aku i na kane i aneane pau loa (95%) sterile ma muli o ke keakea o na vas deferens. Lawe kēia mau awāwa i ka sperm mai ka testes a i ka seminal vesicles. I loko o nā wahine, ʻo ka hoʻonui ʻana i ka viscosity o ka mucus vaginal e hoʻolohi i ka neʻe ʻana o ka sperm. Hiki i ka maʻi ke hoʻopili i ka maʻamau a me ka pinepine o ka ovulation. Ke emi nei ka momona, akā hiki ke hāpai ʻia.