Ua ʻike anei ʻoe i ka maʻi genetic laha ʻole i kapa ʻia ʻo Homocystinuria (HCU)? E kamaʻilio kākou e pili ana i ia mea!

I kēia lā, e kamaʻilio ana mākou e pili ana i kahi maʻi i lohe ʻole ʻia ma mua, akā he mea nui loa ia no nā mea a pau e ʻike. Ua kapa ʻia kēia ʻo Homocystinuria, a i ʻole `(HCU)` no ka pōkole. I kekahi manawa, ke hele pono ʻole kekahi mau kaʻina hana kemika e hana nei i loko o ko mākou kino, hiki ke kū mai nā pilikia i manaʻo ʻole ʻia. ʻO kēia kekahi o ia mau maʻi i kapa ʻia ʻo `(HCU)`. Mai makaʻu, e kamaʻilio maʻalahi kākou e pili ana i kēia.

He aha ka Homocystinuria (HCU)?

I ka ʻōlelo maʻalahi, ʻo `(HCU)` kahi maʻi genetic kakaikahi . ʻO ka mea e hana ʻia ma kēia, ʻaʻole hiki i ko mākou kino ke hoʻomalu pono i ka waikawa amino `(Homocysteine)`, ʻo ia hoʻi, ʻaʻole hiki iā ia ke hoʻohana a wehe iā ia. E noʻonoʻo, he aha ka mea e hana ʻia inā hōʻiliʻili nā mea pono ʻole i loko o ko mākou kino? E like me kēlā, hōʻiliʻili kēia `(Homocysteine)` me ke kumu ʻole i loko o ke koko a me ka mimi. Hiki i kēia hōʻiliʻili ke hana i nā pilikia koʻikoʻi i nā maka, ka ʻōnaehana iwi (ko mākou iwi), ka ʻōnaehana nerve waena (lolo a me ke kaulahao kuamoʻo), a me ka ʻōnaehana vascular (nā kīʻaha koko). I kēia manawa he nīnau kāu , he aha kēia mau waikawa amino? ʻO nā waikawa amino nā poloka kūkulu kumu o nā protein. E like me ka mea e pono ai nā piliki e kūkulu i hale, pono nā waikawa amino e kūkulu i nā protein i loko o ko mākou kino. Hana ko mākou kino i kahi ʻāpana o kēia `(Homocysteine)` mai kahi waikawa amino ʻē aʻe i kapa ʻia ʻo `(Methionine)`. Eia kekahi, mai nā meaʻai kiʻekiʻe-protein a mākou e ʻai ai, no ka laʻana, ka ʻiʻo, ka iʻa, a me nā hua manu, loaʻa iā mākou ka `(Methionine)` hou aku. ʻO ka maʻamau, wāwahi ko mākou kino i kēia `(Methionine)` a hoʻolilo iā ia i `(Homocysteine)`. Eia nō naʻe, i loko o ke kino o ke kanaka me ka `(Homocystinuria), ua nalowale kahi enzyme e pono ai e kāohi pono i kēia `(Homocysteine)`, ʻo ia hoʻi, e mālama iā ia ma ka pae i koi ʻia a hoʻololi i ke koena, a i ʻole ʻaʻole ia e hana pono. ʻO ka enzyme kahi ʻano protein e hoʻolalelale i nā hopena kemika i loko o ko mākou kino. No laila, i ka wā e nalowale ai kēia enzyme, piʻi ka pae o `(Homocysteine)`.

He aha nā ʻano nui o ka homocystinuria?

Ua hoʻokaʻawale nā ​​kānaka noiʻi i ka homocystinuria i kekahi mau ʻano e pili ana i nā kumu hoʻoilina. ʻElua mau ʻano nui:

1. Ka hemahema o Cystathionine beta-synthase (CBS) (Classical Homocystinuria)

ʻO kēia ke ʻano maʻamau o ka homocystinuria. ʻO Cystathionine beta-synthase (CBS) kahi enzyme e kōkua i ka hoʻololi ʻana i ka homocysteine ​​​​i loko o kekahi waikawa amino ʻē aʻe, ʻo cysteine. Loaʻa kēia ʻano maʻi i ka wā e hana ai ka gene CBS i ka enzyme CBS liʻiliʻi a ʻaʻohe paha, a i ʻole i ka wā ʻaʻole hana pono ka enzyme CBS. Pono ka enzyme CBS i ka huaora B6, i ʻike ʻia hoʻi ʻo pyridoxine, e hana pono. Ua māhele hou ʻia kēia ʻano e like me ke ʻano o kāu pane ʻana i nā mea hoʻohui huaora B6.

2. Ka hemahema o ka metabolism Cobalamin (cbl)

Pono ko mākou kino e hoʻololi i kekahi o ka homocysteine ​​​​i methionine. Pili kēia kaʻina hana i ka huaora B12, i ʻike ʻia hoʻi ʻo cobalamin. Hele ko mākou kino i kekahi mau ʻanuʻu e hoʻololi i ka homocysteine ​​​​i methionine. ʻO ka Homocystinuria, i hana ʻia e ka hemahema o ka cobalamin, hiki mai i ka wā ʻaʻole hiki i ke kino ke hoʻopau i kēia ʻanuʻu, ʻaʻole hana i ka enzyme kūpono, a i ʻole hana i nā enzymes kīnā.

He aha ka ʻokoʻa ma waena o ka homocystinuria a me ka Marfan syndrome?

He maʻi hoʻoilina laha ʻole ka maʻi Marfan e hoʻopilikia ana i nā ʻiʻo pili ma ke kino holoʻokoʻa. He like nā hōʻailona he nui o kēia maʻi me nā hōʻailona o ka homocystinuria. No ka laʻana, nā lālā lōʻihi, nā manamana lima lōʻihi a lahilahi, ka ectopia lentis, a me ka myopia. Eia nō naʻe, ua hoʻokumu ʻia ka maʻi Marfan e kahi mutation i loko o ka gene Fibrillin-1 (FBN1). Loaʻa i ka poʻe me ka maʻi Marfan nā pae maʻamau o ka homocysteine ​​​​a me ka methionine.

ʻO wai ka mea i hoʻopilikia nui ʻia e kēia maʻi? Pehea ka maʻamau o ia mea?

Hoʻokumu ʻia ka Homocystinuria e kahi hoʻololi genetic. No laila hiki i kekahi ke loaʻa iā ia. Eia nō naʻe, ua hōʻike kekahi mau noiʻi e hoʻopilikia kēia ʻano i nā kānaka ma kekahi mau ʻāina ma mua o nā mea ʻē aʻe. ʻO kēia mau ʻāina:

• ʻIlelani
• Nolewai
• Kelemānia
• Katala

He maʻi hoʻoilina laha ʻole ka Homocystinuria. ʻO ke ʻano maʻamau o ka maʻi e pili ana ma waena o hoʻokahi i loko o 200,000 a me hoʻokahi i loko o 335,000 poʻe ma ka honua holoʻokoʻa. He mea laha ʻole maoli kēlā.

He aha nā hōʻailona o ka homocystinuria?

ʻOkoʻa nā hōʻailona o ka `(Homocystinuria)` ma muli o ke ʻano āu e loaʻa ai. Hoʻomaka pinepine lākou e ʻike ʻia i nā makahiki mua o ke ola. Eia nō naʻe, ʻaʻole paha e loaʻa i kekahi poʻe kekahi mau hōʻailona a hiki i ka wā makua. ʻO ke ʻano maʻamau o ka `(Homocystinuria)` e hoʻopilikia pinepine i kēia mau ʻōnaehana:

• Nā maka
• ʻŌnaehana iwi
• ʻŌnaehana nerve waena
• ʻŌnaehana vascular

ʻO nā hōʻailona o ka `(Homocystinuria)` e komo pū paha me:

Nā hōʻailona e pili ana i nā maka:

• Neʻe ka aniani o ka maka mai kona kūlana maʻamau (ectopia lentis). Hiki i kēia ke hōʻino i ka ʻike .
• ʻO ka ʻike maka ʻole loa (myopia), ʻo ia hoʻi ka hiki ʻole ke ʻike i kahi mamao.

Nā hōʻailona e pili ana i ka ʻōnaehana skeletal:

• Ke hōʻike nei i ka ulu nui ʻana .
• Ka hoʻolōʻihi ʻana o nā lima, nā wāwae, a me nā manamana lima i kahi ʻano ʻē.
• Kūlou nā kuli i loko a kuʻi pū nā kuli i ka wā e pololei ai nā wāwae (ua kapa ʻia hoʻi kēia he "kūʻi kuli").
• Ua piholo i loko a i ʻole ua puka i mua ka umauma.
• ʻO ke kūlou ʻana o ke kuamoʻo (scoliosis).
• Loaʻa i ka poʻe me ka homocystinuria ka pilikia o ka hoʻomohala ʻana i ka osteoporosis .

Nā hōʻailona e hoʻopilikia ana i ka ʻōnaehana nerve waena:

• Nā lohi o ka ulu ʻana . ʻO ke ʻano kēia ʻaʻole hōʻike i ka ulu ʻana o ka noʻonoʻo a kino paha i kūpono i ka makahiki.
• Nā pilikia aʻo.

Nā hōʻailona e pili ana i ka ʻōnaehana cardiovascular:

• Hoʻonui ʻia ka pilikia o nā ʻūpā koko. Hiki i kēia mau ʻūpā koko ke hana i nā kūlana weliweli e like me ka hahau ʻana a i ʻole ka embolism pulmonary .

He aha nā kumu o ka homocystinuria?

Nui nā ʻano homocystinuria i hana ʻia e nā loli genetic, a i ʻole nā ​​​​mutation, i nā ʻano genes like ʻole.

Nā kumu hoʻoilina

ʻO ke ʻano maʻamau o ka `(Homocystinuria)` i hoʻokumu ʻia e kahi mutation i loko o ka gene `(CBS)`. Ke haʻi nei kēia gene `(CBS)` i ko mākou kino pehea e hana ai i kahi enzyme i kapa ʻia ʻo `(Cystathionine beta-synthase)`. ʻO kēia enzyme ke kuleana no ke ala kemika e hoʻololi ai i ka waikawa `(Homocysteine)` i loko o `(Methionine)`. Hiki ke hoʻokumu ʻia ka `(Homocystinuria)` e nā mutation i loko o nā genes `(MTHFR)`, `(MTR)`, `(MTRR)` a me `(MMADHC)`. ʻO kēia mau genes āpau ke kuleana no ka hoʻololi ʻana i ka waikawa `(Homocysteine)` i loko o `(Methionine). Inā loaʻa i kekahi o kēia mau genes kahi mutation, ʻaʻole hana pono ka enzyme pili. A laila hoʻomaka ka `(Homocysteine)` e hōʻiliʻili i loko o ke kino. Eia naʻe, ʻaʻole maopopo loa i nā mea noiʻi ke kumu o ke kiʻekiʻe o ka homocysteine ​​​​e hoʻoulu ai i nā hōʻailona o ka homocystinuria. Hoʻoilina ʻoe i ka homocystinuria ma ke ʻano autosomal recessive. ʻO ke ʻano kēia, e hoʻoilina wale ʻoe i ka maʻi inā hoʻoili aku kou mau mākua olaola ʻelua i ka gene i hoʻopilikia ʻia iā ʻoe, ka poʻe i loaʻa ʻole nā ​​​​hōʻailona.

Hiki ke hana ʻia ka homocystinuria e ka nele o nā huaora?

ʻAe, hiki nō hoʻi ke loaʻa ka homocystinuria ma muli o nā kumu ʻole genetic. Hiki nō hoʻi ke kumu ʻia kēia kūlana e ka nele nui o ka huaora B6, ka huaora B9 (folate), a i ʻole ka huaora B12 (cobalamin).

Pehea e ʻike ʻia ai ka Homocystinuria?

Ma nā ʻāina e like me ʻAmelika Hui Pū ʻIa, hoʻohana ʻia nā hoʻāʻo nānā ʻana i nā keiki hānau hou e nānā no kekahi mau kūlana metabolic, me ka homocystinuria. Ana ka hoʻāʻo homocysteine ​​​​i nā pae o ka homocysteine ​​​​a me ka methionine i loko o ke koko o kāu pēpē. Inā maikaʻi nā hopena hoʻāʻo, e hōʻike ana he loaʻa paha ke kūlana, e kauoha ke kauka o kāu pēpē i nā hoʻāʻo hou e hōʻoia i nā hopena. Eia naʻe, ʻaʻole pololei mau kēia mau hoʻāʻo keiki hānau hou i ka 100%. I kekahi manawa ʻaʻole hiki iā lākou ke ʻike i kekahi mau kūlana. No laila, ua ʻike ʻia kekahi poʻe me ka homocystinuria ma hope o ka ʻike ʻia ʻana o nā hōʻailona. ʻOiai he nui nā hōʻailona e ʻike ʻia i ka wā kamaliʻi a i ʻole ka wā kamaliʻi, hiki iā lākou ke ʻike ʻia i kekahi manawa i ka wā makua. Inā loaʻa iā ʻoe nā hōʻailona o `(Homocystinuria)`, e kauoha kāu kauka i kahi `(Homocysteine ​​​​test)` e hōʻoia i ke kūlana. Inā hōʻike nā hopena he `(classical homocystinuria)` (ʻo ia hoʻi, `(CBS)` deficiency), e kauoha kāu kauka i kahi hoʻāʻo ʻē aʻe e ʻike i ke ʻano āu i loaʻa ai. Ua kapa ʻia kēia he `(vitamin B6 challenge)` . ʻIke kēia hoʻāʻo pehea ʻoe e pane ai i nā mea hoʻohui vitamin B6. A laila hiki i kāu kauka ke hana i ka hoʻolālā lapaʻau kūpono nou. Hiki ke hoʻokaʻawale ʻia ka `(Classical homocystinuria)` penei:

• Pane ka Wikamina B6: Hana kou kino i ka nui o ka enzyme "(CBS)", no laila hiki i ka wikamina B6 ke kōkua i kēlā enzyme e hana pono.
• Hoʻopili hapa ʻia ka wikamina B6: Hana kou kino i kekahi nui o ka enzyme "(CBS)", no laila hiki i ka wikamina B6 ke kōkua hapa.
• ʻAʻole pane mai ka Wikamina B6: ʻAʻole hana kou kino i ka nui o ka enzyme "(CBS)", no laila ʻaʻole paha e kōkua ka wikamina B6 i ka enzyme.

Hiki i ka hoʻāʻo ʻana i ka genetic ke ʻike i nā mutations i loko o nā genes e hoʻoulu ai i ka homocystinuria. Eia nō naʻe, ʻaʻole hoʻohana pinepine nā kauka i kēia mau mea no ka mea ʻo ka hoʻāʻo homocysteine ​​​​wale nō ke hiki ke ʻike i ke kūlana.

He aha nā lāʻau lapaʻau no ka homocystinuria?

ʻO ka mālama ʻana no ka homocystinuria e pili ana i ka kaohi ʻana i nā pae o ka homocysteine ​​​​i loko o kou koko a me ka mālama ʻana i kāu mau hōʻailona. ʻO ka maʻamau, ʻo ka mālama ʻana e komo pū me ka lawe ʻana i nā mea hoʻohui vitamin B6. Inā loaʻa iā ʻoe ke ʻano e pane ana i ka vitamin B6 (classical homocystinuria), lawa paha nā mea hoʻohui vitamin B6 e hoʻohaʻahaʻa a kaohi i kāu mau pae homocysteine. Eia nō naʻe, inā loaʻa iā ʻoe ke ʻano ʻaʻole pane a pane hapa paha i ka vitamin B6 (classical homocystinuria), ʻaʻole lawa paha nā mea hoʻohui vitamin B6 wale nō. Pono paha ʻoe i nā koho lapaʻau hou aʻe. Hiki i kēia mau mea ke komo pū me:

• ʻO ka lāʻau lapaʻau `(Betaine)` (Betaine) a i ʻole `(Cystadane): `(Betaine)` kōkua i ka hoʻemi ʻana i ka pae o `( Homocysteine ​​)` i loko o kou koko.
• ʻAi kūikawā no ka `(Homocystinuria)`: Pono ʻoe e hahai i kahi ʻai e kaupalena ana i nā meaʻai i loaʻa ka protein a me ka `(Methionine)`.
• Nā mea hoʻohui hou aʻe: Inā loaʻa iā ʻoe kekahi ʻano homocystinuria ʻē aʻe, pono paha ʻoe e lawe i nā mea hoʻohui folate ( vitamin B9 ) a i ʻole cobalamin ( vitamin B12 ).

ʻO ka mea nui loa, ʻo ia ka hoʻomau ʻia ʻana o kēia lāʻau lapaʻau i ke ola holoʻokoʻa . A laila wale nō hiki iā ʻoe ke hoʻomalu i kāu mau pae homocysteine, hoʻēmi i nā pilikia, a ola i kahi ola olakino.

Pehea ka lōʻihi e hiki ai iā ʻoe ke ola me ka homocystinuria?

Inā ʻike mua ʻia a mālama pono ʻia i ke ola holoʻokoʻa, hiki i ka hapa nui o nā keiki me Homocystinuria ke manaʻo e ola maʻamau a olakino . No laila, he mea nui loa ka ʻike mua ʻana a me ka hoʻomau ʻana i ka mālama ʻana.

Hiki ke pale ʻia ka homocystinuria?

No ka mea he maʻi hoʻoilina ia, ʻaʻole hiki ke pale ʻia ka homocystinuria. Eia nō naʻe, inā hāpai ʻoe a i ʻole e hoʻolālā ana e loaʻa kahi keiki i ka wā e hiki mai ana, he mea kūpono ke kamaʻilio me kahi kākāʻōlelo hoʻoilina. Hiki i ke kākāʻōlelo hoʻoilina ke kōkua iā ʻoe e hoʻomaopopo i kou pilikia o ka loaʻa ʻana o kahi keiki me ka homocystinuria. He mea maʻamau ke kaumaha ke ʻike ʻoe he maʻi hoʻoilina kou a i ʻole kāu pēpē. E hoʻokaʻawale i ka manawa e aʻo ai i nā mea āpau e hiki ai iā ʻoe e pili ana i ka homocystinuria. A laila, e ʻimi i kahi kauka e hoʻomaopopo piha i kou kūlana. ʻO ka hana ʻana me kahi loea metabolic hiki ke hāʻawi iā ʻoe i kahi manaʻo o ka mana. Ma ka hoʻoikaika ʻana iā ʻoe iho me ka ʻike a me nā kumuwaiwai, hiki iā ʻoe ke hoʻokō i ka hopena maikaʻi loa.

ʻO ka mea hope loa, ʻo ka mea nui loa (Leka Lawe-Home)

ʻAe, ke lana nei koʻu manaʻo ua ʻike maikaʻi ʻoe i ka mea a mākou i kamaʻilio ai (Homocystinuria). Eia kekahi mau mea koʻikoʻi e hoʻomanaʻo ai:

• He aha ka (Homocystinuria)?He maʻi hoʻoilina kakaikahi, akā hiki ke koʻikoʻi.
• ʻO ka mea e hana ʻia ana ma kēia, ʻaʻole hiki i ke kino ke kaohi pono i kahi kemika i kapa ʻia ʻo "Homocysteine," a hōʻiliʻili ia i loko o ke kino.
• Hiki i kēia ke hana i nā pilikia me nā maka, ka iwi, ka ʻōnaehana nerve, a me nā kīʻaha koko .
• ʻO ka mea nui loa, ʻo ia ka ʻike mua ʻana i ka maʻi a loaʻa ka lāʻau kūpono i kou ola a pau . Inā ʻoe e hana pēlā, hiki iā ʻoe ke ola i kahi ola maʻamau.
• ʻO ka Vitamin B6, kahi papaʻai kūikawā, a me kekahi mau lāʻau lapaʻau nā lāʻau lapaʻau nui no kēia.
• Inā he mau nīnau hou aku kāu e pili ana i kēia, a inā paha he mau hōʻailona kēia o kekahi o kou ʻohana, e ʻoluʻolu e ʻimi i ke kōkua lapaʻau.

Mai makaʻu, ʻo ke ala maikaʻi loa e hoʻoponopono ai i kekahi kūlana olakino, ʻo ia ka ʻike pono ʻana e pili ana i ia mea. Homocystinuria, nā maʻi genetic, homocysteine, nā waikawa amino, wikamina B6, wikamina B12, methionine