Loaʻa i kāu keiki kēia mau hōʻailona? E kamaʻilio kākou e pili ana i ka Cleidocranial Dysplasia

Ua lohi anei ka hoʻopiha ʻana o nā fontanelles o kāu keiki liʻiliʻi? A i ʻole ke manaʻo nei lākou ua kūpono ʻole ko lākou mau iwi collar? Ua lohi anei ka ulu ʻana o ko lākou mau niho? He mea maʻamau i nā mākua ke makaʻu iki i ka ʻike ʻana i kēia mau mea. I kēia lā e kamaʻilio mākou e pili ana i ka Cleidocranial Dysplasia, kahi maʻi genetic kakaʻikahi e hiki ai ke hoʻoulu i kēia mau hōʻailona.

He aha ka Cleidocranial Dysplasia?

I ka ʻōlelo maʻalahi, ʻo Cleidocranial Dysplasia kahi maʻi genetic e hoʻopilikia i ka ulu ʻana o ka ʻōnaehana iwi o ko mākou kino, ʻoiai ke poʻo, nā iwi, a me nā niho. ʻO ka mea e hana ʻia, ʻaʻole ulu a ulu maʻamau kēia mau ʻāpana.

Hiki i nā kānaka me kēia maʻi ke loaʻa i kekahi mau ʻano kino kūikawā . Eia kekahi laʻana:

• ʻAʻole paha i ulu pono nā iwi ʻāʻī (clavicles) a ʻaʻole paha i loaʻa iki. Hiki i kēia ke kumu e hoʻopili ai kekahi mau keiki i ko lākou mau poʻohiwi i mua o ko lākou umauma.
• Kino pōkole.
• Kekahi mau hiʻohiʻona kūikawā o ka helehelena (e.g., lae ākea, ʻauwae liʻiliʻi).
• Ka lohi o ka ulu ʻana o nā niho (e.g., ka lohi o ka puka ʻana o nā niho pēpē, ka lohi o ka puka ʻana o nā niho mau loa, nā niho keu, a me ka nalowale o ka niho).

Akā e hoʻomanaʻo i kēia, ʻaʻohe hopena o kēia kūlana i ka naʻauao o ke keiki a i ʻole ka ulu ʻana o ka noʻonoʻo.

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

He maʻi hoʻoilina ka Cleidocranial Dysplasia i hiki ke hoʻoilina ʻia mai nā mākua ʻelua. Ua kapa ʻia kēia he ʻano hoʻoilina autosomal dominant. No ka laʻana, inā loaʻa i kekahi o nā mākua ka maʻi hoʻoilina, aia he 50% ka manawa e loaʻa pū ai i kā lāua keiki ke ʻano.

Eia kekahi, i kekahi manawa hiki i kahi keiki ke loaʻa i kēia maʻi ma ke ʻano kū ʻole, ʻo ia hoʻi, 'de novo', ʻoiai inā ʻaʻohe mea o ka ʻohana i loaʻa i kēia maʻi ma mua.

He maʻi laha ʻole kēia. Ma ka honua holoʻokoʻa, hoʻokahi wale nō pēpē i loko o hoʻokahi miliona i hānau ʻia me kēia maʻi.

He aha nā hōʻailona o ka Cleidocranial Dysplasia?

ʻAʻole ʻike nā kānaka a pau me kēia maʻi i nā hōʻailona like. ʻOi aku ka liʻiliʻi o nā hōʻailona o kekahi poʻe, ʻoi aku ka nui o kekahi. Eia kekahi, hiki ke ʻokoʻa ke koʻikoʻi o nā hōʻailona mai kēlā kanaka a i kēia kanaka.

ʻO nā hōʻailona nui e ʻike pinepine ʻia:

• Ka lohi o ka pani ʻana o nā kiko palupalu (fontanelles) a me nā humuhumu. Ua like nā kiko palupalu ma luna o ke poʻo o ke pēpē me kahi lua, a he lōʻihi ka manawa e hoʻopiha ai.
• ʻAʻole i ulu pono nā iwi ʻāʻī (clavicles) a i ʻole ua nalowale. Hiki i kēia ke kumu i kekahi mau keiki e hāpai i ko lākou mau poʻohiwi i mua a hoʻohui iā lākou.
• Nā pilikia niho:
• Ka lohi o ka puka ʻana o nā niho mau loa.
• ʻO ka ʻoiaʻiʻo ʻaʻole e hāʻule nā ​​​​niho pēpē.
• Nā niho keu.
• Ka piha ʻana o nā niho.
• Nā niho i piha a kūpono ʻole kekahi i kekahi (malocclusion).

Ma waho aʻe o kēia, ʻo nā hōʻailona ʻē aʻe e hoʻopilikia paha i ka ulu kino o ke keiki e komo pū ana me:

• Nā pilikia hanu: ʻoi aku ka hanu ʻana i ka wā hiamoe (obstructive sleep apnea).
• ʻO ke skoliosis.
• Ka ulu ʻana o nā iwi ma nā lima ma ke ʻano ʻē .
• Ua emi ke kiʻekiʻe a i ʻole ka lohi o ka ulu ʻana.
• Nā mākau neʻe lohi: ʻO ke ʻano kēia ua lohi nā mea e like me ke kolo ʻana, ka hele wāwae ʻana, a me ka piʻi ʻana.
• Nā maʻi sinus pinepine a me nā maʻi pepeiao. Inā hoʻomau nā maʻi pepeiao, hiki nō hoʻi ke nalowale ka lohe.
• Ka emi ʻana o ka nui o ka iwi (osteopenia a i ʻole osteoporosis).

ʻO ka mea nui, ʻoiai inā loaʻa i nā mākua kēia maʻi, ʻokoʻa paha ko lākou mau hōʻailona mai nā hōʻailona o ke keiki.

He aha ke kumu o kēia? E hoʻomaopopo iki kākou i ka ʻaoʻao genetic.

ʻO ke kumu nui o ka Cleidocranial Dysplasia he mutation i loko o ka gene `RUNX2`. ʻO kēia, e like me ka mea i ʻōlelo ʻia ma mua, hiki ke hana maʻamau (de novo) a i ʻole hiki ke hoʻoilina ʻia mai nā mākua mai.

I kēia manawa, e nānā kākou i ke ʻano o kēia mau genes. E noʻonoʻo i ko kākou kino e like me kahi puke nui. He nui nā mokuna o kēia puke. Ua kapa ʻia kēlā mau mokuna he 'chromosomes'. Loaʻa i kēlā me kēia o kā kākou mau cell he 46 o kēia mau chromosomes, ʻo ia hoʻi, he 23 mau pālua. Aia i loko o kēia mau chromosomes ka hoʻonohonoho piha o nā kuhikuhi e kūkulu a hoʻomalu i ko kākou kino, ʻo ia hoʻi, ʻo 'DNA'. ʻO nā 'Genes' nā ʻāpana liʻiliʻi o kēlā 'DNA', e like me nā ʻōlelo i loko o kahi puke. Loaʻa i kēlā me kēia chromosome nā tausani o nā genes.

Loaʻa iā mākou ʻelua kope o kēlā me kēia gene - hoʻokahi mai ko mākou makuahine a hoʻokahi mai ko mākou makuakāne. He ʻano autosomal dominant ka Cleidocranial Dysplasia, ʻo ia hoʻi, inā hoʻoilina ke keiki i ka gene mutated mai hoʻokahi makua wale nō, ua lawa ia no ke keiki e loaʻa ai ka maʻi.

He mea nui: Inā loaʻa i kekahi makua kēia hoʻololi ʻana o ka gene 'RUNX2', he 50% ka manawa kūpono o kā lāua keiki e hoʻoilina i ke ʻano.

Pehea e ʻike ʻia ai ka Cleidocranial Dysplasia?

ʻIke pinepine ʻia kēia maʻi ma hope o ka hānau ʻana o ka pēpē. E nānā kāu kauka i kāu pēpē, e ʻimi i nā hōʻailona, ​​a kauoha i nā hoʻokolohua e hōʻoia i ka hōʻailona.

ʻO nā hoʻokolohua nui i hana ʻia no kēia:

• Nā kukuna X-niho.
• Nā hoʻokolokolo X-ray o nā iwi, ʻoiai ke poʻo, nā iwi ʻāʻī (clavicles), a me nā lima.ʻAe kēia mau hoʻokolohua X-ray i ke kauka e ʻike pololei i nā loli i nā iwi a hana i kahi hoʻolālā lapaʻau e kūpono i ke keiki.
• Hoʻāʻo ʻana i ka genetics. ʻO kēia wale nō ke ala e hōʻoia ai i ka maʻi. Pili kēia i ka lawe ʻana i kahi hāpana o ke koko o ke keiki a hoʻāʻo iā ia i loko o kahi keʻena hoʻokolohua e ʻike ai inā he mau loli i ka DNA o ke keiki, nā chromosomes, a i ʻole nā ​​​​protein. Hiki i kēia hoʻāʻo genetic ke hoʻoholo pololei i ka gene i loaʻa ka mutation.

Pehea e mālama ʻia ai? Hiki ke ho'ōla loa ʻia?

ʻAʻohe lāʻau lapaʻau no ka Cleidocranial Dysplasia. Eia nō naʻe, aia nā ʻano lāʻau like ʻole e kōkua i ka hoʻokele ʻana i nā hōʻailona a hōʻemi i ka ʻoluʻolu ʻole i hoʻokumu ʻia e ke ʻano. He kū hoʻokahi ka hoʻolālā lapaʻau no kēlā me kēia keiki, ʻo ia hoʻi, ua hoʻoholo ʻia ka lāʻau lapaʻau ma muli o nā hōʻailona o ke keiki.

Hiki ke komo pū me ka lāʻau lapaʻau:

• Mālama niho: mālama niho, mālama orthodontic, a me ke ʻoki niho inā pono.
• ʻO ke ʻoki kino no nā pilikia ulu iwi.
• ʻO ke ʻoki kino no nā pilikia me ke poʻo a me nā iwi maka ('ʻoki kino Craniofacial').
• Ke komo ʻana i nā mahiole kūikawā a i ʻole nā ​​​​kākoʻo a hiki i ka uhi piha ʻana o nā iwi poʻo.
• Hoʻōla ʻōlelo.
• Inā loaʻa pinepine iā ʻoe nā maʻi pepeiao, hiki ke hoʻokomo ʻia nā ʻōmole pepeiao.
• Inā ua nalowale kou lohe, e komo i nā mea kōkua lohe.
• Ke hāʻawi nei i nā mea hoʻopihapiha calcium a me ka wikamina D.
• Inā pilikia ʻoe i ka hanu ʻana i ka wā hiamoe (sleep apnea), ua ʻōlelo ʻia ke ʻoki kino.

Aia kekahi ala e hōʻemi ai i ka pilikia o kēia hana?

Hoʻokumu ʻia ka Cleidocranial Dysplasia e kahi mutation genetic, no laila ʻaʻohe ala e pale aku ai. Eia nō naʻe, inā ʻoe e hāpai ana i kahi keiki, he mea nui e makaʻala i nā kūlana genetic, e hoʻomaopopo i ka pilikia o ka hoʻoili ʻana i kahi kūlana genetic i kāu keiki, a kamaʻilio me kāu kauka e pili ana i ke aʻo ʻana i ka genetic a, inā pono, ka hoʻāʻo ʻana i ka genetic.

He aha ka mea e hana ai inā loaʻa i kaʻu keiki ʻo Cleidocranial Dysplasia? He aha kaʻu e manaʻo ai?

Hiki i nā keiki i loaʻa i kēia maʻi ke manaʻo i kahi wānana maikaʻi. Hiki i ka lāʻau lapaʻau ke kāohi i nā hōʻailona. Inā loaʻa i ke keiki kekahi mau hōʻailona koʻikoʻi ma hope o ka hānau ʻana (e.g., nā pilikia ulu nui o ka iwi, ka paʻakikī o ka hanu ʻana), e mālama koke nā kauka iā lākou, a hana pū i ke ʻoki kino inā pono.

He mea pono maoli ka mālama niho i ka wā lōʻihi.ʻO ia hoʻi, e hoʻomākaukau i nā niho i ʻole lākou e hōʻeha a ʻoluʻolu ʻole paha i ko lākou ulu ʻana. E hana kāu hui lapaʻau i kahi hoʻolālā lapaʻau kūikawā i kūpono i nā hōʻailona o kāu keiki, e kōkua ana i kāu keiki e ola i kahi ola piha a olakino.

Āhea ʻoe e ʻike ai i ke kauka?

Inā ʻike ʻoe i kekahi mau hōʻailona o ka Cleidocranial Dysplasia e hoʻopilikia nei i nā hana o kēlā me kēia lā a i ʻole ke olakino o kāu keiki, e ʻike koke i ke kauka. Eia kekahi laʻana:

• Inā he ʻeha a ʻoluʻolu ʻole paha kou waha a niho paha.
• Inā loaʻa pinepine iā ʻoe nā maʻi sinus a pepeiao paha.
• Inā manaʻo ʻoe ʻaʻole hiki iā ʻoe ke lohe pono, a i ʻole ʻaʻole pane i kahi kauoha maʻalahi.
• Inā ua lohi ke keiki i ka hōʻea ʻana i nā pae hoʻomohala kūpono no ko lākou mau makahiki (e like me ke kamaʻilio ʻana, ka hele wāwae ʻana).
• Inā ʻike ʻoe i nā kū hanu manawa ʻole i ka wā hiamoe i ka pō, a inā paha ʻoe e luhi loa i ke ao.

MEA NUI: Inā pilikia kāu keiki i ka hanu ʻana, e hele koke i ka lumi pilikia o ka haukapila kokoke loa, a i ʻole e kelepona iā 1990.

He aha nā nīnau e pono iaʻu e nīnau aku i ke kauka?

I ke kamaʻilio ʻana me ke kauka e pili ana i ke kūlana o kāu keiki, hiki iā ʻoe ke nīnau i kēia mau nīnau:

• E pono anei kaʻu keiki i ke ʻoki niho inā ʻaʻole e ulu pono mai ko lākou mau niho?
• He aha kaʻu e hana ai inā ua lohi kaʻu keiki i ka hiki ʻana i nā pae hoʻomohala?
• He aha koʻu pilikia o ka loaʻa ʻana o kahi keiki me kahi maʻi genetic?

Aia kekahi kanaka kaulana i loaʻa i kēia maʻi?

ʻAe, ua ʻike paha ʻoe iā Gaten Matarazzo, ke keaka hana keaka e hoʻokani nei iā Dustin Henderson ma ka moʻo Netflix kaulana ʻo Stranger Things. Ua hōʻike ākea ʻo ia he Cleidocranial Dysplasia kona. Wahi a Gaten, he laki loa ʻo ia i ka loaʻa ʻana o ke ʻano no ka mea he loaʻa iā ia, a ke ʻōlelo nei hoʻi ʻo ia he laki loa ʻo ia i loaʻa iā ia nā hōʻailona liʻiliʻi. Hoʻohana ʻo ia i kona kaulana e kākoʻo i nā keiki me ke ʻano, hoʻāla i ka ʻike e pili ana i ka maʻi, a kōkua i ka uhaki ʻana i nā manaʻo kuhihewa e pili ana i ka noho ʻana me ke ʻano genetic.

ʻO ka mea hope loa, leka lawe i ka home

Hiki i nā keiki i hānau ʻia me kahi maʻi i kapa ʻia ʻo Cleidocranial Dysplasia ke ola i nā ola maikaʻi loa. Hiki i ka lāʻau lapaʻau ke kaohi i nā hōʻailona a kōkua i ke keiki e ola i kahi ola hauʻoli a hoʻokō.

ʻO ka mea nui loa, ʻo ia ke ʻike pinepine ʻana i ke kauka niho a mālama i kou mau niho. Pono ʻoe e ʻike i ke kauka ma mua o nā keiki ʻē aʻe, i hiki ai i kēlā mau niho ke mālama ʻia me ka ʻole o ka ʻoluʻolu ʻole a me ka ʻeha.

Inā ʻoe e hāpai ana i kahi keiki, he mea nui loa ia e ʻimi i ke aʻoaʻo genetic e aʻo e pili ana i ka pilikia o ka hoʻoili ʻana i kahi maʻi genetic i kāu keiki.

Manaʻolana wau he mea kōkua kēia ʻike iā ʻoe. Inā he mau nīnau hou aku kāu, e ʻoluʻolu e kamaʻilio me kāu kauka.

ʻO ka dysplasia Cleidocranial, nā maʻi genetic, ka ulu ʻana o ka iwi, nā pilikia niho, ka gene RUNX2, ka hoʻāʻo genetic, ke olakino o ke keiki