ʻO ka maʻi hōʻailona he maʻi olaʻole e hiki ke hōʻike iā ia iho me nāʻano likeʻole. ʻO ka paʻakikī o kēia hope e like me keʻano o ka olakino o ka mea maʻi, kona kūkiko, kona nohona a me kekahi mau kumu'ē aʻe.
ʻO ka maʻi o Fabry - he aha ia?
ʻO nā maʻi hōʻailona Lysosomal ka inoa maʻamau o kahi hui nui o nā maʻi maʻi he nuiʻole, i hanaʻia ma ka uhakiʻana i ka hana o nā lysosomes. ʻO kēia wale nō ka maʻi o Fabry. Hoʻohuiʻia me ka emiʻana o ka hana o ka α-galactosidase, he enzyme lysosome, aʻo ia ke kuleana no kaʻokiʻana o nā glycosphingolipids. No laila, he mau momona i hoʻonuiʻia i loko o nā pūnaewele a hoʻopilikia i kā lākou hana maʻamau. E like me ka mea e kau ai, eʻeha i nā pūʻali mīkini paʻakikī maʻemaʻe o nā kīʻaha koko, nā puʻupaʻa, ka puʻuwai, ka pūpū o ke kikowaena, ka umauma.
ʻO ka maʻi o Fabry heʻano hoʻoilina
Ua manaʻoʻia kēia maʻi i ka genetically i hoʻoholoʻia me kahiʻano hoʻoilina o X. ʻO ia,ʻo ka maʻi o Fabry wale nō i hoʻounaʻia ma nā X-chromosomes. Loaʻa i nā wahine heʻelua, a no laila hiki i ka male ke hoʻoilina ma o kāna keikikāne a me kāna kaikamahine. ʻO ka likelike o kahi keiki me kaʻokoʻaʻana o ke kinona ma kēia hihia he 50%. I loko o nā kāne, hoʻokahi wale nō X chromosome, a inā hoʻololiʻia, eʻikeʻia ka maʻi o Anderson Fabry i kā lākou mau kaikamāhine me ka likelika 100%.
ʻO ka maʻi o Fabry - nā kumu
He maʻi maʻi kēia, a no laila, ke kumu nui o ka nānāʻana i ka hoʻololiʻana i nā loli ma GLA-genes -ʻo ia ke kuleana no ka hoʻopā'ālua o ka enzyme. Ma muli o nāʻikepili a me nā hopena o nā kālaiʻike hoʻonaʻauao he nui, he pilikino ka maʻi lysosomal Fabry i 95% o nā hihia, akā, aia nā manaʻo kū'ē'ē. Loaʻa i 5% o nā maʻi "loaʻa" kahi hōʻailona ma nā wahi mua o ke kāpili'ōpiopio. ʻO kēia ma muli o nā hoʻololiʻole.
ʻO nā maʻi maʻi - nā hōʻailona
Hōʻike nā hōʻailona o ka maʻi ma nāʻano lāʻau likeʻole i ko lākouʻano iho:
- ʻO nā kāne. Ma nā lālā o ka wahine ikaika,ʻo ka maʻi Anderson-Fabry, e like me keʻano, e hoʻomaka ke hōʻike mai ka wāʻuʻuku. Nā hōʻailona mua: kaʻeha a me ka'āʻana ma nā wēlau. ʻO kekahi mau mea maʻi e hoʻopiʻi i ka heleʻana o ka palala ulaula, i ka nui o nā mea e uhi ai i ka wahi mai ka piko i nā kuli. I ka holomuaʻana o ka maʻi, nā hōʻailona koʻikoʻi - ke kaumahaʻole o ka'ōpū, ke kaniʻana i nā pepeiao , ka wikiwiki pinepine i ka'ōpū, i ke kua, a me ke kaumaha o ke kino - hiki keʻikeʻia i nā 35 a 40 mau makahiki wale nō.
- Nā wāhine. I loko o ka'ōpū wahine, hōʻike ka maʻi i kahi hanana o nā hōʻike hōʻailona. ʻOiai uaʻikeʻole kekahi mau maʻi i ko lākou pilikia,ʻo ka poʻe'ē aʻe e loaʻa i ka maʻi dystrophy, ka maʻi, nā maʻi o ka maʻi, nā'ākope, nā maʻi'ōpū, nā maʻi kīʻaha, nāʻinoʻino maka, nā maʻi neurological.
- Nā keiki. ʻOiai ma ka hapanui o nā maʻi he nui kaʻike o nā maʻi mua o ka maʻi,ʻo ka maʻi o Fabry i nā keiki keʻike pinepineʻia a hoʻolālā i kaʻike. ʻO nā hōʻailona mua loa, heʻeha a me nā angiokeratomas, kahi i hoʻonohoʻia ma hope o nā pepeiao a mālamaʻoleʻia e nā kauka. Nā hōʻike'ē aʻe o ka maʻi ma nā maʻi liʻiliʻi: kahee me ka luaʻiʻana, ka lizziness, nā poʻohiwi, ka wela.
ʻO nā maʻi maʻi - hōʻoia
ʻO ka hoʻopiʻi wale nō o ka mea hoʻomana no ka hōʻoiaʻanaʻaʻole i lawa pono no ka mea lapaʻau. No ka hoʻoholoʻana i ka maʻi o Fabry, pono e lawe i nā hoʻonaʻauao. Hiki keʻikeʻia ka hana o α-galactosidase ma ka plasma, leukocytes, mimi, haʻalulu wai. Pono pono eʻikeʻia nā hōʻailona maʻamau i ka mālamaʻana i ka lelangaectasia haemorrhagic.
ʻO ka maʻi hōʻino - ka lāʻau
Mai ka hoʻomakaʻana o nā makahiki 2000, ua hoʻohana ikaika nā kauka lapaʻi i ka hoʻokele i ka maʻi o Fabry. ʻO nā lāʻau kaulana loaʻo Repalal a me Fabrazim. Hoʻohana pāʻaniʻia nā lāʻauʻelua. Ua aneane likeʻole ka maikaʻi o nā lāʻau lapaʻau - ke emi nei lākou i kaʻeha, hoʻomaha i nā puʻupaʻa a pale i ka uluʻana o ke kīnāʻole o ka maʻi kūpū.
ʻO ka maʻi o Fabry e hiki ke hoʻopauʻia hoʻi e ka lāʻau maʻamau. Hoʻopiliʻia nā ankonvulsants e hoʻopakele i kaʻeha:
- Hoʻopiʻi;
- Kaapuni;
- ʻO Carbamazepine;
- Pregabalin.
Inā hōʻona nā poʻe maʻi i nā pilikia neʻeneʻi, ua hoʻonohonohoʻia lākou i nā mea hoʻopiʻi ACE a me nā pahu hopu'āpana angiotensin II:
- Enap;
- ʻO Ramipril;
- ʻO Losartan;
- Lysinopril;
- ʻO Valsartan;
- Prestarium;
- ʻO Irbesartana.
ʻO ka maʻi o Fabry - nā'ōlelo hoʻomaha
ʻO ka hakakāʻana i kēia maʻi he hana paʻakikī a hoʻolālā. ʻO nā hopena kūpono o ka lāʻau hoʻoponopono e kali ana i kekahi mau maʻi no nā pule he nui wale, akā, hiki ke paleʻia ka maʻi o Fabry, nā hōʻailona a me ka lāʻau i ho'ākākaʻia ma luna nei. No ka paleʻana i ka hānauʻana o kahi keiki me ka'ōpiopioʻana, ua'ōlelo nā kānaka no ka hanaʻana i nā diagnostic perinatal, aʻo ia hoʻi ke aʻoʻana i ka hana o ka α-galactosidase ma nā pūniki pūnionia.