He aha ka maʻi Fabry? E aʻo kākou e pili ana i kēia maʻi laha ʻole ma nā ʻōlelo maʻalahi

Loaʻa iā ʻoe i kekahi manawa nā manaʻo wela hiki ʻole ke hoʻomanawanui ma kou mau poho lima a me kou mau kapuwaʻi me ke kumu ʻole? A i ʻole ua luhi loa ʻoe a ʻaʻole hou, a he mau kiko ʻulaʻula liʻiliʻi ma kou ʻili? Manaʻo paha ʻoe he mau mea maʻamau kēia. Akā hiki nō hoʻi kēia ke lilo i mau hōʻailona o kahi maʻi genetic laha ʻole i kapa ʻia ʻo Fabry Disease , kahi mea a mākou i lohe ʻole ai. Mai hopohopo, e kamaʻilio mākou e pili ana i ke ʻano o kēia inoa, no ke aha e hana ʻia ai, he aha nā hōʻailona, ​​a inā he lāʻau lapaʻau, ma kēia ʻatikala i kēia lā.

He aha maoli ka maʻi Fabry?

I ka ʻōlelo maʻalahi, ʻo ka maʻi Fabry kahi maʻi i hoʻokumu ʻia e kahi kīnā genetic i loko o ko mākou kino. ʻO ka mea e hana ʻia, ua emi a nalowale loa paha ka hana ʻana o kahi enzyme koʻikoʻi i loko o ko mākou kino. ʻO ka inoa o kēia enzyme ʻo alpha-galactosidase A , a i ʻole `(alpha-GAL)` no ka pōkole.

E noʻonoʻo i ko kākou kino he ʻōnaehana e like me kahi ʻoihana hoʻolei ʻōpala. ʻO kēia enzyme i kapa ʻia ʻo `alpha-GAL` ka limahana akamai loa ma ia ʻoihana. ʻO kāna hana ka hoʻomaʻemaʻe pono a me ka wāwahi ʻana i nā sphingolipids, kahi ʻano momona (ʻoi aku ka pololei, kahi mea e like me ka momona) i hana ʻia i loko o ko kākou mau cell.

I kēia manawa, i loko o ke kino o ke kanaka me ka maʻi Fabry, ʻaʻole lawa ka nui o kēia mea hana akamai, ʻo ka enzyme `alpha-GAL`. He aha ka mea e hana ʻia? Hoʻomaka kēlā mau momona e like me ka ʻōpala i kapa ʻia ʻo `sphingolipids` e hōʻiliʻili i loko o ke kino. E like me ka puʻu ʻōpala e hōʻiliʻili ana i loko o kahi hale inā ʻaʻole i lawe ʻia ka ʻōpala. Hōʻiliʻili nui kēia ʻano momona i loko o ko kākou mau kīʻaha koko, ka puʻuwai, nā puʻupaʻa, ka lolo, ka ʻōnaehana nerve a me ka ʻili. Ke hōʻiliʻili ka momona e like me kēia i ka hala ʻana o ka manawa, hoʻomaka kēlā mau ʻōpū e hōʻino ʻia. 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.

He mea maʻamau kēia maʻi? ʻO wai ka mea e loaʻa ai?

He maʻi laha ʻole ka maʻi Fabry. Wahi a nā helu helu, ʻike ʻia ke ʻano maʻamau ma kahi o hoʻokahi i loko o 40,000 mau kāne. Eia nō naʻe, ʻoi aku ka maʻamau o ke ʻano lohi. Hiki iā ia ke hoʻopilikia ma waena o hoʻokahi i loko o 1,500 a me 4,000 mau kāne.

He mea paʻakikī ke ʻōlelo pololei i ka laha ʻana o kēia maʻi i waena o nā wāhine, no ka mea, ʻaʻohe hōʻailona o kekahi mau wāhine, a i ʻole he mau hōʻailona iki wale nō, a no laila ke ola nei lākou me ka ʻike ʻole ʻia o ka maʻi.

Penei ke ʻano o kona hiki ʻana mai nā hanauna mai.

He maʻi hoʻoilina kēia, ʻo ia hoʻi, ua hoʻoili ʻia mai nā mākua a i nā keiki. Aia ka gene kīnā e hana ai i kēia ma kā mākou chromosome X. E nānā kākou pehea e holo ai kēia i loko o nā ʻohana.

• Inā loaʻa i ka makuakāne ka maʻi: Hoʻoili ka makuakāne me ka maʻi Fabry i kāna chromosome X i kāna mau kaikamahine a pau . ʻO ke ʻano kēia e hoʻoilina kāna mau kaikamahine a pau i ka hoʻololi ʻana o ka gene no ka maʻi. Akā, ʻaʻole i pilikia nā keikikāne . ʻO kēia no ka mea, loaʻa i nā keikikāne ka chromosome Y mai ko lākou makuakāne mai, ʻaʻole mai ka chromosome X.
• Inā loaʻa i ka makuahine ka maʻi: He 50% ka manawa kūpono o ka makuahine me ka maʻi Fabry e hoʻoili i ka chromosome X kīnā i kēlā me kēia o kāna mau keiki (he kaikamahine a he keikikāne paha) . Ua like ia me ka hoʻolei ʻana i kahi ʻāpana kālā. Hiki i kekahi keiki ke hoʻoilina i ka maʻi, a ʻaʻole paha kekahi.

He aha nā hōʻailona o ka maʻi Fabry?

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

Eia kekahi o nā hōʻailona i ʻike pinepine ʻia:

• ʻEha ma nā lima a me nā wāwae: Hiki i nā lima a me nā wāwae ke manaʻo he mae, ʻūlū, a wela paha. Hiki ke ʻoi aku ka ʻino o kēia ʻeha i ka wā o ka hoʻoikaika kino.
• Ka ʻike i ka mahana: ʻAʻole hiki ke ʻae i ka wela nui a i ʻole ke anu nui.
• Ka emi ʻana o ka hou ʻana: ʻAʻole hou iki kekahi poʻe (hypohidrosis) . ʻAʻole hou iki kekahi (anhidrosis) .
• Nā loli o ka ʻili: ʻIke ʻia nā kiko liʻiliʻi, ʻulaʻula ʻeleʻele a poni paha ma nā wahi e like me ka umauma, ke kua, a me ka ʻāpana genital. Ua kapa ʻia kēia mau mea he angiokeratoma .
• Nā loli o ka maka: Hoʻomohala ʻia kahi ʻano kūikawā ma ka cornea o ka maka. Ua kapa ʻia kēia he cornea verticillata . Eia naʻe, ʻaʻole kēia e hoʻopilikia i ka ʻike ma kekahi ʻano. ʻO ke kauka wale nō ke ʻike i kēia me kahi mea kūikawā (kukui slit).
• Nā pilikia o ka ʻōnaehana hoʻoheheʻe: Hoʻopilikia pinepine ʻia nā pilikia e like me ka ʻeha o ka ʻōpū, ka pehu ʻana, ka maʻi diarrhea, a i ʻole ka constipation.
• Nā hōʻailona maʻamau: Hiki ke loaʻa ka luhi, ka poniuniu, ke kuni, a me nā ʻeha kino (e like me ka maʻi palū).
• Nā pilikia lohe: Hiki ke loaʻa ka nalowale o ka lohe a i ʻole ke kani ʻana o nā pepeiao (tinnitus) .
• Nā hopena ma nā puʻupaʻa: Hoʻonui ʻia ka nui o ka protein i loko o ka mimi (proteinuria) .
• Pehu: Pehu nā wāwae, nā kuʻekuʻe wāwae, a me nā wāwae (edema) .

He aha nā pilikia weliweli e hiki ke kū mai ma muli o kēia maʻi?

I loko o nā makahiki he nui, ʻo ka hōʻiliʻili ʻana o kēia mau momona i kapa ʻia ʻo 'sphingolipids' i loko o ke kino hiki ke hōʻeha nui i nā kīʻaha koko a me nā ʻōpū. Hiki i kēia ke alakaʻi i nā pilikia e hiki ke hoʻoweliweli i ke ola.

ʻO nā pilikia nui:

• Maʻi puʻuwai: Nā kūlana e like me ka puʻuwai kūpono ʻole (arrhythmia) , nā hōʻeha puʻuwai, ka puʻuwai hoʻonui, a me ka hāʻule ʻana o ka puʻuwai .
• Ka hāʻule ʻana o nā puʻupaʻa: ʻO ka hōʻino ʻana i nā puʻupaʻa hiki ke alakaʻi i ka nalowale loa o kā lākou hana.
• Nā pilikia aʻalolo: ʻO ka hōʻino ʻana i nā aʻalolo peripheral (peripheral neuropathy) hiki ke hoʻonui i ka ʻeha a me ka numbness i nā lālā.
• Nā Hahau: ʻO ka paʻa ʻana o nā kīʻaha koko i ka lolo e hiki ai ke hoʻoulu i ka maʻi lolo a i ʻole nā ​​​​hoʻouka ischemic transient (TIA) .

Pehea e ʻike ai i ka maʻi? (Diagnosis)

Inā kānalua kāu kauka i ka maʻi Fabry, e kauoha ʻo ia i kekahi mau hoʻokolohua e hōʻoia i ka hōʻailona.

• Hoʻāʻo ʻenzyme:He hoʻāʻo koko kēia. Ana kēia i ka pae o ka enzyme `alpha-GAL` i loko o kou koko. Inā emi kēia pae ma lalo o 1%, ua manaʻo ʻia ka maʻi. Eia naʻe, hiki ke hilinaʻi ʻia kēia hoʻāʻo no nā kāne wale nō. ʻAʻole kūpono kēia no nā wahine, no ka mea, hiki ke loli ko lākou pae enzyme i nā manawa maʻamau.
• Hoʻāʻo ʻana i ka hoʻoilina: ʻO kēia ke ala maikaʻi loa e hōʻoia ai i ka maʻi. Hiki i ka ʻenehana hoʻonohonoho DNA ke ʻike pololei inā he mutation, a kīnā paha, i loko o ka gene GLA , ka mea e kuhikuhi ana i ka hana ʻana o ka enzyme 'alpha-GAL'.
• Nā nānā ʻana i nā pēpē hānau hou: Ma kekahi mau ʻāina, ua nānā ʻia nā pēpē hānau hou no kēia mau maʻi.

He aha nā lāʻau lapaʻau no ka maʻi Fabry?

ʻAʻohe lāʻau lapaʻau no ka maʻi Fabry. Eia nō naʻe, aia nā lāʻau lapaʻau kūpono e hiki ke kōkua i ka kaohi ʻana i nā hōʻailona a hoʻolohi i ka hōʻiliʻili ʻana o nā momona ʻino i loko o ke kino. ʻO ka pahuhopu nui o kēia mau lāʻau lapaʻau ka pale ʻana i nā maʻi puʻuwai, nā maʻi puʻupaʻa, a me nā pilikia koʻikoʻi ʻē aʻe.

Ma waho aʻe o kēia mau lāʻau lapaʻau nui, hāʻawi ʻia nā lāʻau lapaʻau kaʻawale no ka ʻeha a me nā pilikia ʻōpū. Ke hoʻomohala nei nā kānaka ʻepekema i nā lāʻau lapaʻau hou me ka hoʻohana ʻana i ka ʻenehana ʻenekinia genetic.

Pehea lā ke ʻano o ke ola me kēia maʻi? (Outlook)

He maʻi holomua ka maʻi Fabry. ʻO ke ʻano kēia, piʻi ka pilikia o nā hōʻailona a me nā pilikia me ka makahiki. Hiki i ka maʻi ke hoʻopōkole i ka manaʻolana ola. Ma ka awelika, ola nā kāne me ke ʻano maʻamau a hiki i ko lākou mau makahiki 50 a me nā wahine a hiki i ko lākou mau makahiki 70.

Akā ʻo ka mea nui loa , ma ka loaʻa ʻana o ka lāʻau kūpono, ʻoiai hoʻi ma ka mālama ʻana i ke olakino o ka puʻuwai a me nā puʻupaʻa, hiki iā ʻoe ke hoʻohui i nā makahiki he nui i kou ola.

Hiki ke pale ʻia kēia maʻi mai ka laha ʻana i nā lālā o ka ʻohana?

ʻOiai he maʻi hoʻoilina kēia, inā loaʻa i kekahi o kou ʻohana ka hoʻololi ʻana o ka gene e pili ana i kēia maʻi, aia kahi pilikia e hoʻoilina kāu mau keiki. No laila, inā loaʻa iā ʻoe a i ʻole kekahi o kou ʻohana kēia maʻi, he mea nui loa e hālāwai a kamaʻilio me kekahi kākāʻōlelo hoʻoilina .

Hiki i kēlā loea ke wehewehe i ka hiki ke hoʻoilina kāu mau keiki i ka gene. Hiki iā lākou ke kamaʻilio e pili ana i nā koho i loaʻa iā ʻoe inā ʻoe e hoʻolālā ana e loaʻa nā keiki. No ka laʻana, aia kahi kaʻina hana i kapa ʻia ʻo Preimplantation Genetic Diagnosis (PGD) . Hoʻāʻo kēia kaʻina hana i nā embryos ma mua o ko lākou hoʻoili ʻia ʻana i ka makuahine i ka wā o In Vitro Fertilization (IVF) e koho i nā embryos olakino ʻaʻohe gene kīnā.

I ka manawa e pono ai ʻoe e ʻike koke i ke kauka

Inā ua ʻike ʻia ʻoe me ka maʻi Fabry a loaʻa iā ʻoe kekahi o nā hōʻailona ma lalo nei, e ʻike koke i kāu kauka a i ʻole e hele i ka haukapila kokoke loa i ka Emergency Department (ETU).

• ʻEha ka umauma, ka puʻuwai kūpono ʻole, ka paʻakikī o ka hanu ʻana (he mau hōʻailona paha kēia o ka hāʻule puʻuwai).
• Ka pehu nui ʻana a i ʻole ka paʻa ʻana o ka wai i loko o ke kino.
• ʻO ka pōniuniu nui, nā pilikia ʻike, nā loli i ka ʻōlelo (hiki i kēia ke lilo i mau hōʻailona o ka hahau ʻana).
• Ka nalowale koke ʻana o ka lohe.
• ʻO ka ʻeha nui o ka ʻōpū a i ʻole ka maʻi pākī.

Nā nīnau koʻikoʻi e nīnau aku i kāu kauka

Ke ʻike ʻia ʻoe me kēia maʻi, he mea maʻamau ka loaʻa ʻana o nā nīnau he nui. Mai poina e nīnau i kēia mau nīnau ke ʻike ʻoe i kāu kauka.

• Pehea i loaʻa ai iaʻu ka maʻi Fabry?
• He aha ke ʻano o ka maʻi Fabry i loaʻa iaʻu?
• He aha ka lāʻau lapaʻau maikaʻi loa noʻu?
• He aha nā pilikia a me nā hopena ʻaoʻao o kēlā mau lāʻau lapaʻau?
• Aia anei koʻu ʻohana i ka pilikia o ka loaʻa ʻana o kēia maʻi? Pono anei mākou e hana i ka hoʻāʻo genetic?
• He aha nā lāʻau lapaʻau a me nā hoʻokolohua e pono iaʻu e hoʻomau i ka loaʻa ʻana?
• He aha nā hōʻailona o nā pilikia e pono iaʻu e hopohopo nui?

He mea maʻamau ke kaumaha a me ka hopohopo ke ʻike ʻia ʻoe me ka maʻi Fabry. E hopohopo paha ʻoe no ka wā e hiki mai ana a me kāu mau keiki. Akā e hoʻomanaʻo, aia nā lāʻau lapaʻau kūpono loa e hoʻokele i kēia maʻi. A nui nā noiʻi e hana ʻia nei e hāʻawi iā mākou i ka manaʻolana no ka wā e hiki mai ana. 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, ​​​​​​kāohi i ka pōʻino lōʻihi, a ola i kahi ola holomua.