Adrenoleukodystrophy
Nānaina
ʻO ka adrenoleukodystrophy (uh-dree-noh-loo-koh-DIS-truh-fee) he ʻano ia o ka maʻi hoʻoilina (genetika) e hōʻino ana i ka membrane (myelin sheath) e pale aku ana i nā pūnaewele nerve i loko o kou lolo.
Ma ka adrenoleukodystrophy (ALD), ʻaʻole hiki i kou kino ke wāwahi i nā momona momona loa (VLCFAs), e hoʻoulu ai i ka piʻi ʻana o nā VLCFAs saturated i loko o kou lolo, ʻōnaehana nerve a me ka adrenal gland.
ʻO ke ʻano maʻamau loa o ka ALD ʻo ia ka X-linked ALD, kahi i hana ʻia e ka hemahema genetika ma ka chromosome X. Hoʻopili nui ʻia ka X-linked ALD i nā kāne ma mua o nā wahine, ka poʻe e lawe ana i ka maʻi.
ʻO nā ʻano o ka X-linked ALD:
- Childhood-onset ALD. Hoʻomaka pinepine kēia ʻano o ka X-linked ALD ma waena o nā makahiki 4 a me 10. Hoʻopōʻino ʻia ka mea keʻokeʻo o ka lolo (leukodystrophy), a ʻoi aku ka nui o nā hōʻailona ma hope o kekahi manawa. Inā ʻaʻole i ʻike ʻia i ka wā mua, hiki i ka childhood-onset ALD ke alakaʻi i ka make i loko o ʻelima a ʻumi mau makahiki.
- Ka maʻi o Addison. Hoʻomaʻamaʻa pinepine ʻia nā gland hana hormone (adrenal glands) i ka hana ʻana i nā steroids lawa (adrenal insufficiency) i nā poʻe i loaʻa ka ALD, e hoʻoulu ai i kahi ʻano o ka X-linked ALD i ʻike ʻia ʻo ka maʻi o Addison.
- Adrenomyeloneuropathy. ʻO kēia ʻano makua-onset o ka X-linked ALD he ʻano emi iki a lohi ka holomua e hoʻoulu ai i nā hōʻailona e like me ka hele paʻakikī a me ka hana ʻole o ka ʻōpū a me ka ʻōpū. Hiki i nā wahine e lawe ana i ka ALD ke loaʻa i kahi ʻano māmā o ka adrenomyeloneuropathy.
ʻImi ʻike
No ka hōʻoiaʻana i ka ALD, e nānā kāu kauka i kāu mau hōʻailona a me kāu mōʻaukala lapaʻau a me ka ʻohana. E hana kāu kauka i kahi nānā kino a kauoha i kekahi mau ho'āʻo, me kēia mau mea:
- MRI. Hoʻohana nā mea huki ikaika a me nā nalu lekiō e hana i nā kiʻi kikoʻī o kou lolo i loko o kahi scan MRI. Hiki i kēia ke ʻike i nā mea kūpono ʻole i loko o kou lolo e hōʻike ana i ka adrenoleukodystrophy, me ka pōʻino i ka ʻiʻo nerve (waihoʻoluʻu keʻokeʻo) o kou lolo. Hiki i nā kauka ke hoʻohana i nā ʻano MRI like ʻole e nānā i nā kiʻi kikoʻī loa o kou lolo a ʻike i nā hōʻailona mua o ka leukodystrophy.
- Nānā ʻana i ka maka. Hiki i ke ana ʻana i nā pane maka ke nānā i ka holomua o ka maʻi i nā kāne ʻaʻohe hōʻailona ʻē aʻe.
- Biopsy ʻili a me ka mahi ʻana i nā cell fibroblast. Hiki ke lawe ʻia kahi ʻāpana liʻiliʻi o ka ʻili e nānā i nā kiʻekiʻe o VLCFA i kekahi mau hihia.
Ho'āʻo koko. E nānā kēia mau ho'āʻo i nā kiʻekiʻe o nā momona momona-lōʻihi loa (VLCFAs) i loko o kou koko, ʻo ia ka hōʻailona nui o ka adrenoleukodystrophy.
Hoʻohana nā kauka i nā laʻana koko no ka ho'āʻo genetic e ʻike i nā hemahema a i ʻole nā mutations e hoʻokumu i ka ALD. Hoʻohana pū nā kauka i nā ho'āʻo koko e loiloi i ka hana maikaʻi o kāu mau gland adrenal.
Ka mālama ʻana
ʻAʻohe lāʻau lapaʻau no ka maʻi adrenoleukodystrophy. Eia naʻe, hiki i ka hoʻololi ʻana i nā kumu kiko ke hoʻōki i ka holomua ʻana o ka ALD inā hana ʻia i ka wā e ʻike mua ʻia ai nā hōʻailona neurological. E kaukaʻi nā kauka i ka hoʻomaha ʻana i kou mau hōʻailona a me ka hoʻolohi ʻana i ka holomua ʻana o ka maʻi.
Hiki i nā koho lapaʻau ke komo pū me:
- Hoʻololi kumu kiko. Hiki paha kēia ke lilo i koho e hoʻolohi a hoʻōki paha i ka holomua ʻana o ka adrenoleukodystrophy i nā keiki inā ʻike mua ʻia a mālama ʻia ka ALD. Hiki ke lawe ʻia nā kumu kiko mai ka iwi ʻōiwi ma o ka hoʻololi iwi ʻōiwi.
- Lapaʻau no ka nele adrenal. He nui ka poʻe i loaʻa iā lākou ka ALD e loaʻa iā lākou ka nele adrenal a pono e loaʻa iā lākou ka hoʻokolohua adrenal maʻamau. Hiki ke mālama pono ʻia ka nele adrenal me nā steroids (corticosteroid replacement therapy).
- Nā lāʻau lapaʻau. Hiki i kāu kauka ke kuhikuhi i nā lāʻau lapaʻau e kōkua i ka hoʻomaha ʻana i nā hōʻailona, e komo pū ana me ka paʻakikī a me nā hoʻoulu ʻana.
- Lapaʻau kino. Hiki i ka lapaʻau kino ke kōkua i ka hoʻomaha ʻana i nā spasms o nā ʻiʻo a hoʻemi i ka paʻakikī o nā ʻiʻo. Hiki i kāu kauka ke kuhikuhi i nā kaʻa wili a me nā mea hana hoʻoneʻe ʻē aʻe inā pono.
I kahi hoʻokolohua lapaʻau hou, ua mālama ʻia nā keikikāne me ka cerebral ALD i ka wā mua me ka gene therapy ma ke ʻano he koho i ka hoʻololi ʻana i nā kumu kiko. He manaʻolana nā hopena mua mai ka gene therapy. Ua kūpaʻa ka holomua ʻana o ka maʻi i ka 88 pakeneka o nā keikikāne i komo i ka hoʻokolohua. Pono nā noiʻi hou e loiloi i nā hopena lōʻihi a me ka palekana o ka gene therapy no ka cerebral ALD.
Hōʻole: He kahua ʻike olakino ʻo ʻAukake a ʻaʻole hōʻike kāna mau pane i ka ʻōlelo aʻoaʻo lapaʻau. E kūkākūkā mau me kahi ʻoihana lapaʻau laikini kokoke iā ʻoe ma mua o ka hana ʻana i nā hoʻololi.
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