Maʻi Fabry: E aʻo kākou e pili ana i kēia maʻi hoʻoilina laha ʻole

Ke manaʻo nei ʻoe e like me ke kuni wale nei a i ʻole ke ʻā ʻana o kou mau lālā? Ke luhi loa nei ʻoe i kekahi manawa ma hope o ka hana ʻana i nā hana liʻiliʻi? ʻOiai ke ʻano maʻamau kēia mau mea, i kekahi manawa aia paha kahi maʻi genetic kakaikahi ma hope o kēia, e like me ka maʻi Fabry. ʻAʻole paha ʻoe i lohe i kēia inoa. Akā he mea nui loa ia e ʻike e pili ana i ia mea. E kamaʻilio wale kākou e pili ana i kēia lā.

I ka ʻōlelo maʻalahi, he aha ka maʻi Fabry?

He maʻi hoʻoilina ka maʻi Fabry e holo ana i loko o ko kākou mau ʻohana. He mea kākaʻikahi loa ia. I ka ʻōlelo maʻalahi, ʻaʻole hana pono ke kanaka me kēia maʻi i kahi enzyme i kapa ʻia ʻo alpha-galactosidase A (alpha-GAL no ka pōkole).

I kēia manawa ke noʻonoʻo nei paha ʻoe i ke ʻano o kēia enzyme. ʻO ka enzyme kahi ʻano protein e kōkua ana i nā kaʻina hana kemika like ʻole i loko o ko mākou kino. ʻO ka hana nui o kēia enzyme alpha-GAL ka wāwahi ʻana i kahi ʻano momona i kapa ʻia ʻo sphingolipids i loko o ko mākou kino, ʻo ia hoʻi, e hoʻoheheʻe a wehe iā ia mai ke kino.

E noʻonoʻo, he aha ka mea e hana ai inā ʻaʻole hele mai ka mea hōʻiliʻili ʻōpala i ko mākou hale no nā lā? Hōʻiliʻili ka ʻōpala ma loko o ka hale, ʻeā? Pēlā nō ia. Ke nalowale ka enzyme alpha-GAL, hoʻomaka kahi ʻano momona i kapa ʻia ʻo sphingolipids e hōʻiliʻili i loko o ko mākou mau kīʻaha koko a me nā ʻiʻo. Hiki i kēia hōʻiliʻili ke hōʻino i ko mākou puʻuwai, nā puʻupaʻa, ka lolo, ka ʻōnaehana nerve, a me ka ʻili. No loko kēia o kahi hui o nā maʻi i kapa ʻia ʻo nā maʻi mālama lysosomal.

He aha nā ʻano nui o kēia maʻi?

Hiki ke hoʻokaʻawale ʻia ka maʻi Fabry i ʻelua ʻano nui, ma muli o ka makahiki e hoʻomaka ai nā hōʻailona e ʻike ʻia.

Pehea e ulu ai ka maʻi Fabry? He maʻi hoʻoilina anei ia?

ʻAe, he maʻi hoʻoilina loa kēia. Aia ko mākou mau genes ma nā mea i kapa ʻia he chromosomes. Aia ka gene kīnā e hoʻoulu ai i kēia maʻi ma ka chromosome X.

E hoʻomaopopo maʻalahi kākou:

• Inā loaʻa i ka makuakāne ka maʻi Fabry:
• Ua hoʻoilina kāna mau kaikamahine a pau i kēia chromosome X kīnā. ʻO ia hoʻi, ua hiki i kāna mau kaikamahine a pau ke loaʻa i kēia maʻi.
• Akā, no ka mea, ua hoʻoilina nā keiki kāne i ka chromosome Y mai ko lākou mau makuakāne mai, ʻaʻole i hoʻoilina nā keiki kāne i kēia maʻi mai ko lākou mau makuakāne mai.
• Inā loaʻa i ka makuahine ka maʻi Fabry:
• No ka mea, he ʻelua mau chromosome X ko ka makuahine, he 50% ka manawa e loaʻa ai i kēlā me kēia keiki (he kaikamahine a he keikikāne paha) ka chromosome X kīnā. ʻO ke ʻano kēia, hiki i kekahi mau keiki ke loaʻa i ka maʻi, a ʻo kekahi ʻaʻole paha.

He aha nā hōʻailona o ka maʻi Fabry?

Hiki ke ʻokoʻa nā hōʻailona mai kēlā kanaka a kēia kanaka. ʻOi aku ka koʻikoʻi o nā hōʻailona o nā kāne ma mua o nā wahine. Loaʻa paha i kekahi mau wahine nā hōʻailona palupalu loa a ʻaʻohe paha.

Eia nā hōʻailona maʻamau:

• ʻO ka maneʻo, ke kuʻi ʻana, a i ʻole ka ʻeha nui ma nā lima a me nā wāwae .
• ʻEha nui i ka wā hoʻoikaika kino a i ʻole ka hana kino.
• Ke hoʻomanawanui ʻole i ke anu a i ʻole ka wela.
• Ka emi ʻana o ka hou ʻana (hypohidrosis) a i ʻole ka ʻole o ka hou ʻana (anhidrosis).
• Nā pilikia ʻōpū e like me ka ʻeha ʻōpū, ka maʻi palahēhē, a me ka paʻa ʻana.
• Pōʻaiʻī.
• Nā ʻōuli like me ko ka maʻi palū, e like me ke kuni, ka ʻeha kino, a me ka luhi.
• Ka nalowale o ka lohe a i ʻole ke kani ʻana o nā pepeiao (tinnitus).
• Nā puʻupuʻu liʻiliʻi ʻulaʻula-poni (angiokeratomas) e ʻike ʻia ma ka ʻili o ka umauma, ke kua, a me ka ʻāpana genital.
• Ka pehu ʻana (edema) o nā wāwae, nā kuʻekuʻe wāwae, a me nā kapuwaʻi.
• Hoʻonui ʻia ka nui o ka protein i loko o ka mimi (proteinuria).
• Hoʻomohala ʻia kahi ʻano kūikawā (cornea verticillata) i loko o ka maka. ʻAʻole kēia e hoʻopilikia i ka ʻike. Hiki ke ʻike ʻia me kahi hoʻokolohua maka kūikawā (slit lamp exam).

Nā pilikia weliweli e hiki ke kū mai ma muli o kēia maʻi

Hiki i ke ʻano momona i ʻōlelo ʻia ma luna nei (sphingolipids) ke hōʻiliʻili i loko o ke kino i nā makahiki he nui a hiki ke hōʻino i ko mākou mau kino nui. Hiki i kēia ke alakaʻi i nā pilikia e hiki ke hoʻoweliweli i ke ola.

• Maʻi puʻuwai: ka puʻuwai kūpono ʻole (arrhythmia), ka hōʻeha puʻuwai, ka puʻuwai hoʻonui, a me ka hāʻule ʻana o ka puʻuwai.
• Ka hemahema o ka puʻupaʻa: Ma hope o ka manawa, pono paha ka dialysis a i ʻole ka hoʻoili ʻana i ka puʻupaʻa.
• Nā Hahau: Hiki ke hana ʻia kahi hahau a i ʻole ka hoʻouka ischemic transient (TIA) ma muli o ke ālai ʻana o nā kīʻaha koko i ka lolo.
• Ka hōʻino ʻana o nā aʻalolo (neuropathy peripheral).

Pehea e ʻike ai i ka maʻi?

Inā loaʻa iā ʻoe nā hōʻailona e like me kēia, hiki i kāu kauka ke kānalua i kēia maʻi a kuhikuhi iā ʻoe no kekahi mau hoʻokolohua.

He aha nā lāʻau lapaʻau?

ʻAʻohe lāʻau lapaʻau no ka maʻi Fabry i kēia manawa. Akā, mai hoʻokuʻu i ka manaʻolana. I kēia manawa, aia nā lāʻau lapaʻau kūpono loa e hiki ke kāohi i nā hōʻailona, ​​​​hoʻolohi i ka hōʻiliʻili ʻana o ka momona i loko o ke kino, a pale i nā pilikia koʻikoʻi.

ʻElua mau ʻano lapaʻau nui:

1. Lapaʻau Hoʻololi ʻEnzyme (ERT)

ʻO kēia ka hāʻawi ʻana iā ʻoe i kahi mana i hana ʻia e ka lab o ka enzyme alpha-GAL, kahi mea a kou kino i hana ʻole ai. Hāʻawi ʻia kēia lāʻau lapaʻau ma ke ʻano he IV infusion, e like me ka saline, i kēlā me kēia ʻelua pule.Hoʻōki kēia lāʻau i ka hōʻiliʻili ʻana o ka momona i loko o ke kino.

2. Hoʻōla Chaperone Waha

He pila kēia āu e lawe ai. Hana kēia lāʻau lapaʻau ma ka hoʻoponopono ʻana i ka enzyme alpha-GAL hewa i loko o kou kino a hoʻihoʻi iā ia e hana. Eia naʻe, ʻaʻole hana kēia lāʻau lapaʻau no nā mea āpau. Aia ia i ke ʻano o kāu hoʻololi ʻana o ka genetic. Na kāu kauka e hoʻoholo inā kūpono kēia iā ʻoe.

Ma waho aʻe o kēia mau lāʻau lapaʻau nui, hiki ke hāʻawi ʻia nā lāʻau lapaʻau kaʻawale no ka ʻeha, ka ʻōpū ʻeha, a me nā hōʻailona ʻē aʻe.

Āhea ʻoe e ʻike ai i ke kauka?

Inā ua ʻike ʻia ʻoe me ka maʻi Fabry, pono ʻoe e kelepona koke aku i kāu kauka inā loaʻa iā ʻoe kekahi o kēia mau hōʻailona:

• Nā hōʻailona o ka hōʻeha puʻuwai e like me ka ʻeha o ka umauma, ka pōkole o ka hanu, a me ka puʻuwai kūpono ʻole (inā hana ʻia kēia, e hele koke i ka Emergency Department (ETU) o ka haukapila).
• Ka pehu nui.
• Nā hōʻailona o ka maʻi lolo e like me ka dizziness nui, nā loli i ka ʻike, a me ka paʻakikī i ka ʻōlelo ʻana (e hele koke i ka ETU i kēia hihia).
• Ka nalowale koke ʻana o ka lohe.
• ʻEha nui o ka ʻōpū a i ʻole ka pehu ʻana.

He mea maʻamau ka makaʻu a me ka hopohopo ke ʻike ʻia ʻoe me ka maʻi Fabry. Loaʻa paha iā ʻoe nā hopohopo e pili ana i kou wā e hiki mai ana a me kāu mau keiki. Eia nō naʻe, loaʻa nā lāʻau lapaʻau kūpono i kēia manawa a ke kali nei nā noiʻi hou. Ma ka hahai pono ʻana i kāu hoʻolālā lapaʻau a me ka hana pū ʻana me kāu kauka, hiki iā ʻoe ke hoʻokele i kāu mau hōʻailona a pale i ka pōʻino lōʻihi.