Ke ʻike nei ʻoe i kekahi manawa i ka ʻeha hiki ʻole ke hoʻomanawanui a me ka mumū ma kou mau lima a me kou mau wāwae, me nā kiko ʻulaʻula liʻiliʻi ma kou kino? Ke ʻike koke ʻoe i nā hōʻailona e like me ka pili ʻole, hiki ke lilo i pilikia nui. I kēia lā ke kamaʻilio nei mākou e pili ana i kahi maʻi e hiki ai ke hana i nā hōʻailona like, akā ʻaʻole i lohe ka nui o ka poʻe ma ko mākou ʻāina. ʻO ia ka maʻi Fabry.
I ka ʻōlelo maʻalahi, he aha ka maʻi Fabry?
He maʻi hoʻoilina ka maʻi Fabry i hoʻoilina ʻia mai ko kākou mau genes. He mea kākaʻikahi loa ia. He mea momona ka mea i hōʻiliʻili ʻia i loko o ko lākou mau hunaola kino e ke kanaka me kēia maʻi. E noʻonoʻo i ka mea e hana ʻia inā ʻaʻole i hele mai ka mea hōʻiliʻili ʻōpala i ko mākou hale no kekahi mau lā? Hōʻiliʻili ka ʻōpala i loko o ko mākou hale, ʻeā? Pēlā nō ia. I loko o kēia maʻi, ʻaʻole i hana ʻia i loko o ke kino ka enzyme e wāwahi a wehe i kēia mea momona mai ko mākou mau hunaola, a i ʻole ʻaʻole ia e hana pono.
Ke hōʻiliʻili ka momona ma kēia ʻano, hoʻomaka ko mākou mau kīʻaha koko e ololi. Hiki i kēia ke hōʻino i ka ʻili, nā puʻupaʻa, ka puʻuwai, ka lolo, a me ka ʻōnaehana nerve . Kāhea pū nā kauka i kēia he "maʻi mālama." Hoʻomaka pinepine kēia mau hōʻailona i ka wā kamaliʻi. A ʻoi aku ka maʻamau i nā kāne ma mua o nā wahine.
Mai hopohopo. ʻOiai ʻaʻohe lāʻau lapaʻau no kēia, aia nā lāʻau lapaʻau maikaʻi i loaʻa i kēia lā e hiki ke kōkua iā ʻoe e hoʻokele i kāu mau hōʻailona a ola i kahi ola maʻamau.
He aha ke kumu o ka maʻi Fabry?
He maʻi hoʻoilina piha kēia. ʻO ia hoʻi, he mea ia i hoʻoilina ʻia mai kou makuahine a makua paha. Pono mākou i kahi enzyme i kapa ʻia ʻo alpha-galactosidase A e wāwahi i nā mea e like me nā aila, nā waxes, a me nā waikawa momona i loko o ko mākou kino. ʻAʻohe o ka enzyme o ke kanaka me ka maʻi Fabry, a inā loaʻa iā lākou, ʻaʻole ia e hana pono. No laila, e like me kaʻu i ʻōlelo ai ma mua, hoʻomaka kēia ʻano momona e hōʻiliʻili i loko o nā cell.
He aha nā hōʻailona o kēia maʻi?
Hiki ke ʻokoʻa nā hōʻailona o ka maʻi Fabry mai kēlā kanaka a kēia kanaka. Hoʻopilikia nui ʻia kekahi poʻe e kēia mau hōʻailona, aʻo kekahi ʻaʻole i hoʻopilikia nui ʻia. E nānā kākou i nā hōʻailona nui e ʻike ʻia.
| Hōʻailona | Wehewehena |
|---|---|
| ʻEha a me ka mumū ma nā lālā | Hoʻonui ʻia kēia ʻeha i ka wā e hoʻoikaika kino ai, ke loaʻa iā ʻoe ke kuni, ke wela nui ʻoe, a i ʻole ke luhi ʻoe. |
| Nā kiko ʻili | Nā kiko liʻiliʻi, ʻulaʻula ʻeleʻele a poni paha i ʻike pinepine ʻia ma ka ʻāpana ma waena o nā puʻupuʻu a me nā kuli. |
| Nā hemahema o ka ʻike maka | Nā kūlana e like me ka ʻike maka pōwehiwehi a i ʻole nā cataracts. |
| Nā pilikia lohe | Ka nalowale o ka lohe a i ʻole ke "kani" mau ʻana i nā pepeiao. |
| Ua emi ka hou ʻana | ʻOi aku ka hou ʻana ma mua o ka hou ʻana o ke kanaka maʻamau. |
| Nā pilikia o ka ʻōnaehana hoʻoheheʻe | ʻEha ka ʻōpū a me ka pono e kahe koke ka wai ma hope o ka ʻai ʻana. |
Nā pilikia koʻikoʻi
Hiki i ka maʻi Fabry ke hoʻoulu i nā pilikia koʻikoʻi i ka hala ʻana o ka manawa. Kiʻekiʻe loa kēia pilikia i nā kāne. Eia nō naʻe, hiki i nā wahine e lawe ana i ka gene no kēia maʻi (nā mea lawe) ke loaʻa i nā hōʻailona. No laila, he mea nui loa i nā wahine ke makaʻala i kēia maʻi a e ʻimi mau i ke aʻo lapaʻau.
- Hoʻonui ʻia ka pilikia o ka hōʻeha puʻuwai a i ʻole ka hahau ʻana .
- Ka pōʻino nui o nā puʻupaʻa a me ka hāʻule ʻana o nā puʻupaʻa.
- Ke koko kiʻekiʻe.
- Ka hāʻule ʻana o ka puʻuwai a me ka hoʻonui ʻana o ka puʻuwai.
- Ka lahilahi o nā iwi (Osteoporosis).
Pehea e ʻike pono ai i kēia maʻi?
ʻO kaʻoiaʻiʻo, hiki i kekahi manawa ke lōʻihi ka manawa e ʻike ai i ka maʻi Fabry. ʻO ke kumu, ua like nā hōʻailona me nā maʻi ʻē aʻe he nui. ʻO ka hopena, ʻaʻole ʻike kekahi poʻe he maʻi Fabry ko lākou a hiki i nā makahiki ma hope o ka hoʻomaka ʻana o nā hōʻailona. I loko o ia manawa, ua ʻike paha lākou i nā kauka like ʻole no nā hōʻailona like ʻole, a i kekahi manawa ua loaʻa iā lākou nā hōʻailona hewa.
Inā ua loaʻa i kekahi o kou ʻohana kēia mau hōʻailona a manaʻo ʻoe ua pilikia ʻoe, he manaʻo maikaʻi e kamaʻilio me kāu kauka e pili ana i ka hoʻāʻo genetic .
Ke hele ʻoe e ʻike i ke kauka, e nānā ʻo ia iā ʻoe a nīnau i nā nīnau e like me kēia:
- Pehea kou manaʻo?
- He aha kou mau hōʻailona?
- I ka manawa hea i hoʻomaka ai kēia mau mea?
- Aia kekahi o kou ʻohana i kekahi o kēia mau maʻi?
Ma muli o kēia ʻike, inā manaʻo ke kauka he maʻi Fabry paha kēia, e noi aku ʻo ia iā ʻoe e hana i kahi hoʻāʻo koko (e nānā i ka pae o ka enzyme alpha-galactosidase A aʻu i ʻōlelo ai) a i ʻole kahi hoʻāʻo DNA .
Pehea e mālama ʻia ai?
ʻElua mau lāʻau lapaʻau nui no ka maʻi Fabry.
1. Lapaʻau Hoʻololi Enzyme (ERT): ʻO kēia ke ʻano hana i hoʻohana pinepine ʻia. Pili kēia i ka hāʻawi ʻana i ke kino i kahi enzyme i nalowale a hana pono ʻole paha ma o kahi wai saline. Hana pinepine ʻia kēia ma kahi haukapila a i ʻole ke keʻena lapaʻau ma kahi o hoʻokahi manawa i kēlā me kēia ʻelua pule. Hoʻōki kēia lāʻau i ka hōʻiliʻili ʻana o ka momona i loko o ke kino a kāohi i ka ʻeha a me nā hōʻailona ʻē aʻe.
2. Migalastat (Galafold): He lāʻau lapaʻau hou kēia e hiki ke lawe ʻia ma ke ʻano he pila. Hana ia ma ka hoʻopaʻa ʻana i ka enzyme hana hewa a hoʻomaikaʻi i kāna hana.
Ma waho aʻe o kēia mau lāʻau lapaʻau nui, hiki i kāu kauka ke ʻōlelo i nā lāʻau lapaʻau ʻē aʻe ma muli o kāu mau hōʻailona.
- Nā lāʻau ʻeha no ka ʻeha i hoʻokumu ʻia e ka hōʻino ʻana o ke aʻalolo.
- Lāʻau lapaʻau no nā pilikia ʻōpū.
- Nā lāʻau hoʻokahe koko e pale ai i nā ʻūpā koko.
- Nā lāʻau lapaʻau no ke koko kiʻekiʻe a me ka pale ʻana i nā puʻupaʻa.
Inā ua hōʻino nui ka maʻi i nā puʻupaʻa, pono paha ka dialysis a i ʻole ka hoʻoili ʻana i ka puʻupaʻa.
Nā hoʻokolohua e nānā ana i kou kūlana
I ka wā o ka mālama ʻana, e hana mau kāu kauka i nā hoʻokolohua like ʻole e nānā i kou kūlana.
| Hoʻāʻo | He wehewehe maʻalahi |
|---|---|
| EKG (Electrocardiogram) | Ke ana ʻana i ka hana uila o ka puʻuwai, e nānā ana i ka helu a me ke ʻano o ka puʻuwai. |
| ʻEchocardiogram | He scan ultrasound o ka puʻuwai. Ke ana kēia i ke olakino a me ka hana o nā ʻāpana o ka puʻuwai. |
| MRI lolo | Ke kiʻi ʻana i nā kiʻi kikoʻī o ka lolo a me nā ʻōpū ʻē aʻe. |
| Nānā CT | Ke kiʻi ʻana i nā kiʻi kikoʻī o loko o ke kino me ka hoʻohana ʻana i nā kukuna X. |
| Nā hoʻokolohua ʻē aʻe | Nā hoʻāʻo koko, mimi, thyroid, nā hoʻāʻo lohe a me ka ʻike, nā hoʻāʻo hana māmā. |
Leka Lawe-Home
- He maʻi hoʻoilina ka maʻi Fabry. ʻAʻole ia he mea laha.
- Hiki ke ʻike pū ʻia nā hōʻailona he nui ʻole e pili pū ana, e like me ka ʻeha nui ma nā lālā, nā kiko ʻulaʻula ma ka ʻili, a me ka emi ʻana o ka hou ʻana.
- He lōʻihi paha ka manawa e ʻike ai i ka maʻi, akā hiki i nā hoʻokolohua koko a me ka DNA ke hōʻoia pono i ka maʻi.
- ʻOiai ʻaʻole hiki ke ho'ōla loa ʻia kēia maʻi, aia nā lāʻau lapaʻau kūpono (e like me ERT) i hiki ke kaohi i nā hōʻailona, pale i nā pilikia koʻikoʻi, a kōkua i nā kānaka e ola i ke ola maʻamau.
- Mai hoʻopoina i nā lāʻau lapaʻau a me nā hoʻokolohua a kāu kauka e hāʻawi ai iā ʻoe. He mea nui loa ka hahai mau ʻana i nā ʻōlelo a kāu kauka no kou olakino i ka wā e hiki mai ana.
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