Ke ʻano wikiwiki nei anei kāu pēpē i ka ʻelemakule? E kamaʻilio kākou e pili ana iā Progeria!

ʻAuē, i kekahi manawa he mea kaumaha loa ka ʻike ʻana i kā mākou mau keiki liʻiliʻi e maʻi ana, ʻeā? ʻOi loa aku, inā ʻoi aku ka nui o ke ʻano o ke keiki ma mua o kona mau makahiki, pehea ka manaʻo o nā mākua ke ʻike lākou iā ia? I kēia lā e kamaʻilio mākou e pili ana i kahi maʻi kakaikahi loa, akā he mea nui loa e ʻike ai. Ua kapa ʻia kēia ʻo 'Progeria'. He maʻi hoʻoilina maoli kēia e hoʻolilo i kahi keiki i ʻelemakule wikiwiki ma mua o kona mau makahiki.

He aha ka ʻōlelo ʻo 'Progeria'? E hoʻomaopopo maʻalahi kākou, ʻeā?

I ka ʻōlelo maʻalahi, he maʻi hoʻoilina laha ʻole ʻo Progeria. ʻO ka mea e hana ʻia ma kēia, ʻo ia ka ʻelemakule koke ʻana o ke keiki. E noʻonoʻo, ke kanu ʻoe i kahi mea kanu liʻiliʻi, ulu mālie ia. Akā, ulu koke nā keiki me kēia maʻi a ʻike ʻia he ʻelemakule.

I ka wā hānau, olakino pinepine kēia mau keiki a like me nā pēpē ʻē aʻe. Akā i loko o ka makahiki mua a ʻelua paha o ke ola, hoʻomaka lākou e hōʻike i nā hōʻailona o ka ʻelemakule mua. Hoʻolohi ko lākou ulu ʻana, a ʻaʻole e piʻi aʻe ko lākou kaumaha e like me ka mea i manaʻo ʻia. Eia naʻe, ʻaʻohe hemahema o kēia mau keiki i ka naʻauao. Pono mākou e hoʻomanaʻo i kēlā.

Eia kekahi o nā loli kino i hoʻokumu ʻia e kēia ʻano:

• Ka nalowale o ka lauoho (ʻōhule)
• Nā maka e ʻō aku ana
• ʻIli ʻelemakule, ʻāwili
• He ihu lahilahi a ʻoi
• He helehelena liʻiliʻi kūpono ʻole i ka hoʻohālikelike ʻia me ka nui o ke poʻo
• Ka nalowale ʻana o ka papa ʻaila ma lalo o ka ʻili

Mai ka huaʻōlelo Helene "geras" ka inoa "Progeria", ʻo ia hoʻi "ka ʻelemakule". ʻO ke ʻano nui o kēia maʻi i kapa ʻia ʻo Hutchinson-Gilford Progeria Syndrome (HGPS). Ua wehewehe mua ʻia i ka hopena o nā makahiki 1800 e nā kauka ʻelua, ʻo Kauka Jonathan Hutchinson lāua ʻo Kauka Hastings Gilford.

ʻO ka mea kaumaha, he maʻi make mau ʻo Progeria. ʻO ka awelika o ka make ʻana o kēia mau keiki ma kahi o 14.5 mau makahiki. Eia nō naʻe, ua ola kekahi poʻe ʻōpio me Progeria a hiki i ko lākou mau makahiki he 20. Ua ʻike ʻia kahi lāʻau i kapa ʻia ʻo Lonafarnib e hoʻolohi i ka holomua o ka maʻi.

ʻO ka hapa nui o nā make ma muli o nā pilikia mai ka atherosclerosis koʻikoʻi . ʻO kēia ka maʻi puʻuwai like e hoʻopilikia pinepine i nā miliona o nā pākeke. Akā hoʻopilikia ia i kēia mau keiki i ka wā ʻōpiopio loa. ʻO Atherosclerosis kahi kūlana kahi e hōʻiliʻili ai nā waihona momona (plaque) i loko o nā paia o kou mau kīʻaha koko (arteries), e hoʻolilo ana iā lākou i mea palupalu a paʻakikī. Hiki i kēia ke alakaʻi i nā kūlana e like me nā hōʻeha puʻuwai a i ʻole nā ​​​​hahau.

ʻO wai ka mea i hoʻopilikia nui ʻia e Progeria?

He maʻi laha ʻole ka Progeria i hiki ke hoʻopilikia i kekahi. ʻO ka hapa nui, ua hana ʻia e kahi loli genetic de novo. ʻO ke ʻano kēia, ʻaʻohe mea o ka ʻohana i loaʻa i ka maʻi ma mua .

Pehea ka maʻamau o Progeria?

He mea kākaʻikahi loa kēia. Hoʻokahi wale nō i loko o ʻehā miliona mau hānau ola ma ka honua holoʻokoʻa i hoʻopilikia ʻia e kēia maʻi. Ua manaʻo ʻia aia ma kahi o 400 mau keiki a me nā ʻōpio me Progeria ma ka honua holoʻokoʻa.

He aha nā hōʻailona o Progeria?

Ua like loa nā hōʻailona o Progeria me nā mea i ʻike ʻia e ka poʻe i ko lākou ʻelemakule maʻamau. Eia naʻe, ʻike ʻia lākou i ka wā ʻōpiopio loa. I loko o nā makahiki ʻelua mua o ke ola, hoʻomaka nā keiki me Progeria e hōʻike i kēia mau hōʻailona o ka ʻelemakule wikiwiki:

• Ka lohi o ka ulu ʻana/kino pōkole.
• Ka ʻūmiʻi ʻana o ka ʻili.
• Ka hāʻule ʻana o ka lauoho (ʻōhule).
• ʻOʻoleʻa o nā hono a me ka paʻakikī i ka neʻe ʻana.
• ʻIli paʻakikī a ʻāʻā, like me ke ʻano i kapa ʻia ʻo 'Scleroderma'.
• Ua emi ka momona o ke kino.

Hiki i nā ʻano maʻi craniofacial ke komo pū me:

• Ua hāmama loa ka wahi palupalu ma ke alo o ke poʻo (fontanelle).
• He helehelena ololi e pili ana i ka nui o ke poʻo (macrocephaly - kahi i nui ai ke poʻo akā liʻiliʻi ka maka).
• He ihu ʻoi.
• Ka lohi o ka ulu ʻana o nā niho.
• ʻĀwae liʻiliʻi (ʻaʻole i ulu pono) (`micrognathia`).

I ka holomua ʻana o ka maʻi, hiki ke ʻike ʻia nā hōʻailona i ʻike ʻole ʻia e like me kēia:

• Ka hemo ʻana o ka ʻūhā.
• Nā katarata.
• ʻO ka ʻāʻī.
• Ka hōʻiliʻili ʻana o ka plaque i loko o nā aʻa.

He aha ke kumu o Progeria?

ʻO ke kumu nui o Progeria he hoʻololi ʻana o ka genetic i loko o ka gene i kapa ʻia ʻo LMNA. ʻO kēia gene LMNA ke kuleana no ka hana ʻana i kahi protein i kapa ʻia ʻo lamin A, ka mea e kōkua ai i ka hoʻopaʻa ʻana i ka nucleus o kēlā me kēia cell i loko o ko mākou kino. E noʻonoʻo iā ia e like me nā paia o kahi hale no kahi cell.

ʻO kahi loli liʻiliʻi loa i loko o ka gene `LMNA` e hoʻoulu ai i kahi ʻano ʻē o ka protein `lamin A`, i kapa ʻia ʻo `progerin`. Hoʻololi kēia `progerin` iā `lamin A` a hoʻopau i ka paʻa ʻana o nā nuclei o kā mākou mau cell, e hōʻino mālie ana iā lākou. ʻO kēia ke kumu o ka make koke ʻana o kēlā me kēia cell i loko o ko mākou kino. ʻO ia ke kumu o kēia kaʻina hana ʻelemakule mua.

He hoʻoilina anei ʻo Progeria?

ʻO ka mea paha i hoʻokumu ʻia ʻo Progeria e kahi loli hou a kūlohelohe (ʻano loli ʻole) i loko o ka gene LMNA. ʻO ke ʻano kēia, ʻaʻole ia i hoʻoilina ʻia mai nā mākua mai. ʻO ka hapa pinepine, hana ʻia kēia loli ma mua o ka hāpai ʻana, i loko o ka sperm.

He Progeria dominant a recessive paha?

He maʻi autosomal dominant ka Progeria, ʻo ia hoʻi inā loaʻa i kēlā me kēia cell hoʻokahi kope o ka gene mutated, ua lawa ia e hoʻoulu ai i ke ʻano.

Pehea e ʻike ʻia ai ʻo Progeria?

Hiki paha i ke kauka o kāu keiki ke ʻike i ke kūlana ma muli o ke ʻano kino o kāu keiki. E nānā ʻo ia i kāu keiki a nīnau iā ʻoe e pili ana i kāu mau hōʻailona. Inā kānalua ʻia ʻo Progeria, hiki ke hana ʻia ka hoʻāʻo genetic e hōʻoia i ka hōʻailona. Pili kēia i ka lawe ʻana i kahi hāpana koko mai kāu keiki.

He aha nā lāʻau lapaʻau no Progeria?

ʻAʻohe lāʻau lapaʻau no Progeria i kēia manawa. Eia nō naʻe, ke aʻo nei nā kānaka noiʻi i kekahi mau lāʻau lapaʻau e hiki ke mālama i ke ʻano. ʻO ka lāʻau i hoʻohana ʻia e mālama ai iā Progeria ua kapa ʻia ʻo Lonafarnib (Zokinvy™). He lāʻau lapaʻau ia i hoʻolālā ʻia e mālama i ka maʻi kanesa. Eia nō naʻe, ua hōʻike ʻo Lonafarnib i ka holomua ma nā ʻano he nui o Progeria. Ua hoʻonui ʻia ka awelika o ke ola o nā keiki me ka maʻi ma kahi o ʻelua a me ka hapa makahiki. Ua hōʻike kēlā me kēia keiki e lawe ana i ka lāʻau lapaʻau i ka holomua ma kekahi a ʻoi aku paha o nā wahi ʻehā aʻe:

• Hoʻonui ʻia ka maʻalahi o nā kīʻaha koko.
• Ka ulu ʻana o ka ʻano o ka iwi.
• Piʻi ke kaumaha.
• Hoʻomaikaʻi ʻia ka hiki ke lohe.

Hiki i ka hoʻōla kino ke kōkua i kāu keiki e mālama i ka laulā maikaʻi o ka neʻe ʻana, ke kaulike, a me ke kūlana. Hiki iā ia ke kōkua i ka hōʻemi ʻana i ka ʻeha ma nā pūhaka a me nā wāwae. Hiki i ka hoʻōla hana ke kōkua i kāu keiki e hoʻomaikaʻi i ka ʻai ʻana, ka hoʻomaʻemaʻe pilikino, a me ke kākau lima ʻana.

ʻO ka mea nui loa, ʻo ia ka hāʻawi ʻana i kāu keiki i ka mālama e pono ai lākou e ola olakino a ʻoluʻolu hoʻi.

E nānā a mālama ke kauka o kāu keiki i kēia kūlana ma o nā mea e like me:

• Nānā ʻana i nā maʻi puʻuwai: E nānā ke kauka o kāu keiki i ke koko o kāu keiki a hana i nā hoʻokolohua e like me nā echocardiograms i nā manawa a pau. Hiki i nā lāʻau aspirin a me nā statin haʻahaʻa ke kōkua i ka hōʻemi ʻana i ka pilikia o ka maʻi puʻuwai.
• Nā hoʻāʻo kiʻi (e laʻa, Magnetic Resonance Imaging - MRI): Hoʻohana ke kauka i nā hoʻokolohua kiʻi e like me MRI e nānā i nā hahau, a i ʻole e nānā i nā ʻeha poʻo pinepine a i ʻole nā ​​hopu ʻana.
• Nā hoʻokolohua maka maʻamau: Loaʻa paha i kāu keiki nā pilikia maka e like me ka ʻike kokoke a i ʻole nā ​​maka maloʻo. Hiki ke loaʻa nā maka maloʻo no ka mea ʻaʻole pani piha nā lihilihi. I ka holomua ʻana o ka maʻi, hiki i ke keiki ke loaʻa i ka cataracts. Hiki i nā maka maka a me nā kuʻemaka ke lahilahi a nalowale paha. ʻOi aku ka nui o ka hiki ke komo ka lepo a me nā ʻōpala i loko o nā maka. Eia kekahi, hiki i ke keiki ke loaʻa ka ʻike nui i ka mālamalama. No laila, pono paha e komo i nā aniani maka i kekahi manawa.
• Nā hoʻokolohua hoʻolohe:Hiki i ke keiki ke loaʻa ka nalowale o ka lohe. Hiki ke hoʻoponopono ʻia kēia mau mea me nā mea kōkua lohe.
• Nā nānā niho maʻamau: ʻOi aku ka nui o ka loaʻa ʻana o nā pilikia niho o kāu keiki e like me nā lua, ka paʻa ʻana o nā niho, ka lohi o ka ulu ʻana o nā niho, a me ka emi ʻana o nā ʻāʻī. Hiki i ke kipa mau ʻana i ke kauka niho ke kōkua i ka nānā ʻana a me ka mālama ʻana i kēia mau pilikia.
• Nā pilikia ʻili: E nānā ke kauka i nā kiko ʻeleʻele a i ʻole nā ​​puʻupuʻu ma ka ʻili o ke keiki. E nānā pū lākou i ka hāʻule ʻana o ka lauoho, ka maneʻo, a me ka mānoanoa o ka ʻili (hiki ke kaupalena i ka neʻe ʻana a paʻakikī i ka hanu ʻana a i ʻole ka ʻeli ʻana i ka meaʻai).
• Ka nānā ʻana i ke olakino o ka iwi: Hiki i ke keiki ke loaʻa i kekahi mau pilikia e pili ana i ka ulu ʻana a me ka ulu ʻana o ka iwi. Hiki iā lākou ke loaʻa i nā pilikia hono.

Pono kāu pēpē i ka meaʻai kūpono e ulu ai. Pono paha ʻo ia i ka meaʻai hoʻohui (e like me ka ʻōmole hānai). ʻO ka mālama ʻana i kāu pēpē i ka wai maikaʻi (hāʻawi ʻia ka wai) hiki ke kōkua i ka hōʻemi ʻana i ka pilikia o nā pilikia neurological koke. E kamaʻilio me ke kauka o kāu pēpē e pili ana i nā ala olakino e loaʻa ai nā calorie a me ka hydration lawa.

Hiki ke pale ʻia ka Progeria?

He maʻi laha loa ka Progeria i hiki ʻole ke pale ʻia. Hoʻokumu pinepine ʻia e kahi hoʻololi ʻana o ka gene hou. ʻO ia hoʻi, hiki wale mai ia. ʻOiai ʻaʻole holo pinepine kēia maʻi i loko o nā ʻohana, he paʻakikī ke wānana. Eia nō naʻe, inā he keiki kāu me Progeria, ua hoʻonui iki ʻia ka manawa e loaʻa ai i kekahi keiki ʻē aʻe ka maʻi. Makemake paha ʻoe e noʻonoʻo i ka hoʻāʻo ʻana i ka genetic e ʻike i kou pilikia.

He aha ke kūlana o ke ola o kekahi kanaka me Progeria?

He maʻi make ʻo Progeria e make ai i ka wā ʻōpiopio. ʻO ka awelika o ke ola no kekahi me Progeria ma kahi o 14.5 mau makahiki. Eia nō naʻe, make kekahi mau keiki i ka wā ʻōpiopio o 6 mau makahiki. Eia kekahi, ola kekahi poʻe ʻōpio me Progeria a hiki i ko lākou mau makahiki he 20.

ʻO ka maʻamau, ʻo ka make ma muli o nā pilikia o ke ʻano 'Atherosclerosis'. ʻOi aku ma mua o 80% o nā make ma muli o ka 'puʻuwai hāʻule' a/a i ʻole ka 'hōʻeha puʻuwai'. Ua hōʻike ka lāʻau lapaʻau me ka lāʻau 'lonafarnib' i nā hopena maikaʻi. Ua hoʻolōʻihi ia i ke ola o ka poʻe me 'Progeria' ma kahi o ʻelua a me ka hapa makahiki.

Inā loaʻa ka Progeria i kaʻu keiki, e loaʻa pū anei i kaʻu mau keiki ʻē aʻe?

Hoʻokumu ʻia ʻo Progeria e kahi hoʻololi genetic kakaʻikahi loa, a ʻaʻole ia e holo pinepine i loko o nā ʻohana. ʻO ka manawa kūpono e loaʻa ai kahi keiki me Progeria ma kahi o 1 i loko o 4 miliona. Eia nō naʻe, inā he keiki hoʻokahi kāu me Progeria, ʻaʻole paha e loaʻa i kekahi keiki ʻē aʻe.ʻOi aku ke kiʻekiʻe o ka manawa kūpono, ma waena o 2% a me 3%. ʻO kēia ma muli o kahi kūlana i kapa ʻia ʻo mosaicism. I ka mosaicism, he hapa liʻiliʻi o nā cell i loko o kekahi makua i loaʻa ka mutation gene no Progeria, akā ʻaʻole i loaʻa i kēlā makua ka maʻi. Inā loaʻa i kāu keiki ʻo Progeria, makemake paha ʻoe e noʻonoʻo i ka hoʻāʻo genetic e ʻike ai inā aia kekahi keiki ʻē aʻe i ka pilikia o ka loaʻa ʻana o ka maʻi.

Inā loaʻa ka Progeria i kaʻu keiki, pehea e hiki ai iaʻu ke mālama iā ia?

Inā loaʻa i kāu keiki ʻo Progeria, e hoʻāʻo e hana i kahi ʻano home maʻamau e like me ka hiki. E hoʻokomo i kāu keiki i nā hana he nui e like me ka hiki. Akā, mai hoʻokuʻu i nā keiki ʻē aʻe o kou ʻohana e manaʻo ua nele lākou i ka nānā.

I ke kamaʻilio ʻana me ka ʻohana holoʻokoʻa e pili ana i ka ʻoiaʻiʻo e ola wale ana kāu keiki me Progeria a hiki i kekahi mau makahiki, e ʻoiaʻiʻo akā kūpono i ka makahiki. Hiki i nā hālāwai kūkākūkā ke kōkua i nā kūlana he nui.

Eia kekahi, e kamaʻilio me kāu keiki e pili ana i ke ʻano o ka haʻohaʻo ʻana o kekahi poʻe a nānā ʻē iā lākou. E kamaʻilio me kāu keiki e pili ana i ke ʻano o kā lākou pane ʻana inā nānā mai kekahi iā lākou me ke ʻano ʻē a hāwanawana paha.

Hiki i kahi keiki me Progeria ke hele i ke kula?

He nui nā keiki me Progeria e hele i ke kula. Pono paha lākou i nā wahi e kōkua ai iā lākou e komo piha, e ʻoluʻolu, a palekana. Pono ʻoe e hālāwai pinepine me nā luna hoʻomalu kula o kāu keiki, nā kahu maʻi, nā mea hoʻōla, a me nā kumu. E kōkua kēia i nā mea a pau e hana pū e hoʻokō i nā pono o kāu keiki. Hoʻokomo pū kēia i ka hana ʻana i kahi hoʻolālā a me ka kaʻana like ʻana me nā mea a pau inā pono kāu keiki i ka mālama ulia pōpilikia ma ke kula (no ka laʻana, inā pilikia koke lākou i ka hanu ʻana a i ʻole ka ʻeha o ka umauma).

He aha ka "Neonatal progeria"?

Ma waho aʻe o ka maʻi progeria Hutchinson-Gilford, aia kekahi mau kūlana ʻē aʻe e hoʻoulu ai i ka ʻelemakule mua. Ua kapa ʻia kēia mau mea he mau maʻi progeroid. ʻO ka neonatal progeria, i ʻike ʻia hoʻi ʻo neonatal progeroid syndrome, kekahi o ia ʻano. Ua ʻike ʻia hoʻi ʻo Wiedemann-Rautenstrauch syndrome, ʻo kēia kūlana ke kumu o ka lohi o ka ulu ʻana a me ka ʻūlū ʻana o ka ʻili. Eia nō naʻe, ua hoʻoilina ʻia ka maʻi progeroid neonatal ma ke ʻano autosomal recessive. ʻO ke ʻano kēia e loaʻa wale ka maʻi inā hoʻoilina ʻia nā kope ʻelua o ka gene mutated i kēlā me kēia cell.

Hiki ke hoʻoluhi a huikau ka ʻike ʻana ua loaʻa i kāu keiki ʻo Progeria. Hiki i ke kauka o kāu keiki ke kōkua iā ʻoe a me kou ʻohana e kū i ka hōʻailona. Hiki iā ia ke kōkua iā ʻoe e hoʻomaopopo i nā koho lapaʻau e hiki ke hoʻolohi i ka holomua o ka maʻi. He nui nā mākua o nā keiki me nā maʻi genetic e like me Progeria e ʻike nei he kōkua nui nā hui kākoʻo. ʻO ka nīnau ʻana i nā nīnau, ke aʻo ʻana e pili ana i nā ʻike o nā ʻohana ʻē aʻe hiki ke hōʻoluʻolu, a hiki ke kōkua iā ʻoe e manaʻo ʻaʻole ʻoe hoʻokahi.

Nā mea nui e hoʻomanaʻo (Leka Lawe-Home)

He maʻi laha ʻole ka Progeria, akā he maʻi hoʻoweliweli ia i ke ola e pono ai ke makaʻala.

• He maʻi hoʻoilina kēia: hana pinepine ʻia e kahi hoʻololi hou ʻana o ka gene.
• ʻO ka ʻelemakule wikiwiki ka hōʻailona nui: ʻO nā mea e like me ke ʻano o ke keiki, ka ʻili, a me nā iwi e ʻelemakule koke.
• ʻAʻole i hoʻopilikia ʻia ka naʻauao: He maʻamau ka pae naʻauao o kēia mau keiki.
• Aia nā lāʻau lapaʻau, akā ʻaʻohe lāʻau lapaʻau: Hiki i nā lāʻau lapaʻau e like me Lonafarnib ke hoʻolohi i ka holomua o ka maʻi a hoʻonui i ka manaʻolana o ke ola. Akā, ʻaʻole i loaʻa kahi lāʻau lapaʻau piha.
• He mea nui loa ke aloha a me ke kākoʻo no ke keiki: ʻo ke kōkua ʻana i ke keiki e ola i kahi ola maʻamau, ka hoʻomaopopo ʻana iā ia, a me ka hāʻawi ʻana i ka lāʻau lapaʻau e pono ai he mea nui loa ia.
• ʻAʻole ʻoe hoʻokahi: e kamaʻilio me nā ʻohana ʻē aʻe e kū nei i nā kūlana like, e kiʻi i ke kākoʻo, a e ʻimi i ka ʻōlelo aʻo mai nā kauka.

Manaʻolana wau he mea kōkua kēia ʻike iā ʻoe. Inā he kānalua kāu, mai poina e nīnau i ke kauka.

ʻO Progeria, nā maʻi hoʻoilina, ka ʻelemakule mua, ka gene LMNA, lonafarnib, ke olakino o nā keiki, nā maʻi laha ʻole