Loaʻa i kekahi o kou ʻohana kahi maʻi hoʻoilina laha ʻole? E aʻo e pili ana i nā maʻi mālama Lysosomal

I kekahi manawa he mea paʻakikī iā mākou ke hoʻomaopopo i kekahi mau maʻi e hiki mai ana i kekahi o ko mākou ʻohana, ʻoiai he keiki liʻiliʻi. Ke hele mākou i ke kauka, ʻaʻole mākou i kamaʻāina i kekahi o nā maʻi āna e haʻi mai nei iā mākou. No laila, i kēia lā ke kamaʻilio nei mākou e pili ana i kahi hui o nā maʻi i lohe ʻole ʻia e ka poʻe he nui, akā he mea nui loa ia e ʻike. Ua kapa ʻia kēia mau mea ʻo Lysosomal Storage Disorders. ʻOiai paha he mea paʻakikī iki kēia inoa ke lohe ʻoe, e hoʻomaopopo maʻalahi kākou.

He aha nā maʻi mālama lysosomal (LSD)?

ʻAe, e ʻōlelo kākou penei. Ua hana ʻia ko kākou kino me nā piliona o nā pūnaewele liʻiliʻi. Aia i loko o kēlā me kēia o kēia mau pūnaewele kahi ʻāpana kūikawā i kapa ʻia ʻo 'lysosome.' E noʻonoʻo iā ia he 'kikowaena hana hou ʻōpala' i loko o ke kelepona. ʻO kāna hana nui ka wāwahi, hoʻoheheʻe, a hana hou i nā mea pono ʻole o ke kelepona, e like me nā protein, nā carbohydrates, a me nā ʻāpana kelepona kahiko.

No ka hana ʻana i kēia hana koʻikoʻi, loaʻa i ka lysosome kahi hui kūikawā o nā mea kōkua. Kāhea mākou iā lākou he 'enzymes'. He mau ʻano protein kūikawā kēia. E like me ka ʻokiʻoki, kōkua kēia mau enzymes i ka wāwahi a me ka wāwahi ʻana i nā mea nui.

I kēia manawa, e noʻonoʻo e pili ana i ia mea, he aha ka mea e hana ʻia inā no kekahi kumu ʻaʻole i hana pono ʻia kekahi o kēia mau enzymes i loko o ko kākou kino? A laila, ʻaʻole hana pono ka hana o kēlā 'kikowaena hana hou'. ʻO kēlā mau mea e pono ai ke wāwahi ʻia a hoʻoheheʻe ʻia, ʻo ia hoʻi, nā mea e like me nā protein a me nā momona, e hoʻomaka e hōʻiliʻili i loko o nā cell. E like me kahi ʻōpala. I ka hala ʻana o ka manawa, lilo kēia mau mea i hōʻiliʻili ʻia i mea ʻawahia i nā cell, hoʻomaka e luku i nā cell, a ma o ia mea, e hōʻino i nā ʻano kino like ʻole i loko o ko kākou kino. ʻO ia ke kūlana a mākou e kapa nei he maʻi mālama lysosomal.

He aha nā ʻano nui o kēia hui o nā maʻi?

Nui nā ʻano maʻi ma lalo o kēia māhele. Hoʻokumu ʻia kēlā me kēia o lākou e ka nele o kahi enzyme kikoʻī. E nānā kākou i kekahi o nā ʻano maʻamau. ʻOiai ke ʻano huikau iki nā inoa o kēia mau mea, maʻalahi ke hoʻomaopopo ke ʻike ʻoe i ko lākou ʻano.

No ke aha e loaʻa ai kēia mau maʻi?

He nui o kēia mau maʻi he mau maʻi hoʻoilina. ʻO ia hoʻi, ua hoʻoilina ʻia mai nā mākua a i nā keiki. Penei ka hana ʻana.

E noʻonoʻo he 'kope nāwaliwali' ko nā mākua ʻelua o ka gene e hana ana i kahi enzyme. Akā, ʻaʻole lākou e hōʻike i nā hōʻailona no ka mea he 'kope olakino' ko lākou o kēlā gene. Kāhea mākou i kēia poʻe he 'mea lawe'.

Eia nō naʻe, inā loaʻa i ke keiki kēia kope nāwaliwali o ka gene mai ka makuahine a me ka makuakāne, a laila ʻaʻole e hana ke kino o ke keiki i ka enzyme kūpono. ʻO ia ka manawa e loaʻa ai i ke keiki ka maʻi mālama lysosomal pili.

He mau maʻi laha ʻole kēia. Eia nō naʻe, ʻoi aku ka maʻamau o kekahi mau maʻi i kekahi mau hui lāhui. No ka laʻana, ʻoi aku ka maʻamau o nā maʻi Gaucher a me Tay-Sachs i nā poʻe o ka hanauna Iudaio ʻEulopa.

He aha nā hōʻailona?

Aia nā hōʻailona ma ka enzyme i nele, a no laila ma nā ʻāpana o ke kino i mālama ʻia ai nā mea makemake ʻole ʻia. No laila, ʻokoʻa nā hōʻailona o kēlā me kēia maʻi.

• ʻO nā hōʻailona o ka maʻi Fabry e komo pū me ka mumū, ka ʻeha, ka maneʻo, nā kiko ʻulaʻula ma ka ʻili, ka emi ʻana o ka hou ʻana, a me ka nalowale o ka lohe ma nā lālā.
• Hiki i ka maʻi Gaucher ke hoʻonui i ka spleen a me ke akepaʻa, ka maʻalahi o ka ʻeha, ka ʻeha o ka iwi, ka luhi nui, a me ka anemia (ka helu koko haʻahaʻa).
• Hoʻokumu ka maʻi Pompe i nā hōʻailona e like me ka nāwaliwali nui o nā ʻiʻo, ka paʻakikī o ka hanu ʻana, ka ulu ʻole o nā pēpē, a me ka puʻuwai i hoʻonui ʻia.
• Hoʻomohala maikaʻi nā pēpē me ka maʻi Tay-Sachs no nā mahina mua, akā ma hope e nalowale ke kaohi ʻana o nā ʻiʻo. E nalowale paha ko lākou ʻike maka a me ka lohe, a loaʻa iā lākou nā maʻi ʻōʻō.

Pehea ʻoe e ʻike ai inā loaʻa iā ʻoe kēia mau maʻi?

He hana paʻakikī iki ka ʻike ʻana i kēia mau maʻi, akā he mea nui ka ʻike mua ʻana.

1. Nānā ʻana i ka Mea Lawe: Ma muli o kou mōʻaukala ʻohana, hiki i kāu kauka ke kuhikuhi i ka hoʻāʻo genetic ma mua o ka male ʻana a i ʻole i ka wā hāpai. Hiki i kēia ke kōkua i ka hoʻoholo ʻana inā he mea lawe ʻoe a i ʻole kāu hoa i kēia mau maʻi.

2. Nā hoʻāʻo i ka wā hāpai: Inā ʻike ʻia kahi ʻano ʻē i ka wā o ka ultrasound scan i ka wā hāpai, hiki i ke kauka ke kuhikuhi i ka hoʻāʻo ʻana i ka ʻōpū.

• ʻAmniocentesis: Hoʻāʻo ʻia ka genetic ma ka lawe ʻana i kahi hāpana liʻiliʻi o ka wai amniotic e hoʻopuni ana i ka ʻōpū o ka makuahine.
• Chorionic Villus Sampling (CVS): Lawe ʻia kahi hāpana liʻiliʻi o nā pūnaewele mai ka placenta a hoʻāʻo ʻia.

3. Inā loaʻa i kahi keiki nā hōʻailona: Hiki ke hoʻāʻo ʻia kahi hāpana koko mai ke keiki e nānā i nā pae enzyme. Eia kekahi, hiki ke hana ʻia nā hoʻokolohua ʻē aʻe e like me ka MRI scan, biopsy, a i ʻole ka hoʻāʻo mimi.

He aha nā lāʻau lapaʻau no kēia?

ʻAʻohe lāʻau lapaʻau no kēia mau maʻi i kēia manawa. Eia nō naʻe, aia kekahi mau lāʻau lapaʻau e hiki ke kāohi i nā hōʻailona a hoʻonui i ka manaʻolana ola a me ke ʻano o ke ola.

• Lapaʻau Hoʻololi Enzyme (ERT): Pili kēia i ka hāʻawi ʻana i ka enzyme hemahema o ke kino i loko o ke kino ma o kahi aa koko (IV).
• ʻO ka Substrate Reduction Therapy (SRT): Pili kēia i ka lawelawe ʻana i nā lāʻau lapaʻau e hōʻemi ana i ka hana ʻana o nā mea makemake ʻole e hōʻiliʻili ana i loko o nā pūnaewele.
• Hoʻoili Kelepona Kumu:Hoʻoili ʻia nā pūnaewele kumu i lawe ʻia mai kahi kanaka olakino i loko o ka mea maʻi, e kōkua ana i ke kino e hana i ka enzyme e pono ai.
• Ka mālama ʻana i nā hōʻailona: Hoʻokele ʻia nā hōʻailona me nā lāʻau lapaʻau e like me ka lāʻau ʻeha, ka lāʻau lapaʻau kino, ke ʻoki kino, a i kekahi mau hihia, ka dialysis.

Eia kekahi, ke hana ʻia nei ka noiʻi ʻana i nā lāʻau lapaʻau hou e like me ka gene therapy, kahi e hāʻawi ai i kahi hopena mau loa i ka wā e hiki mai ana.

E aʻo kākou e pili ana i ke ola ʻana me kēia mau maʻi.

He mau maʻi kēia no ke ola holoʻokoʻa, no laila me ka mālama ʻana, he mea nui loa ia e hoʻololi i ke ʻano o ka nohona.

• ʻAi maikaʻi: E kamaʻilio me kāu kauka a me ke kauka meaʻai e hana i kahi ʻai kaulike e kūpono iā ʻoe.
• E hōʻemi i kou pilikia: Hiki i kēia mau maʻi ke hoʻonui i kou pilikia o ka loaʻa ʻana o nā maʻi ʻē aʻe. No ka laʻana, he mea nui loa ia no kekahi me ka maʻi Fabry e kaohi i ko lākou pae cholesterol.
• E noho hana: E nīnau i kāu kauka e pili ana i nā hoʻoikaika kino palekana i kūpono i kou kino.
• Ola kino: ʻO ka noho ʻana me kahi maʻi lōʻihi e like me kēia hiki ke paʻakikī i ka noʻonoʻo. E ʻimi i ke kōkua mai kahi loea noʻonoʻo a mea aʻoaʻo paha. Eia kekahi, ʻo ka hui pū ʻana me nā hui kākoʻo me nā poʻe me nā maʻi like he kōkua nui ia.