Loaʻa i kāu keiki kēia mau hōʻailona? E aʻo kākou e pili ana i ka Costello Syndrome!

I kekahi manawa hopohopo nui mākou ke lohe mākou e pili ana i kekahi mau maʻi e loaʻa i kā mākou mau keiki, ʻeā? ʻOi loa aku inā he maʻi laha ʻole ia. ʻO kekahi ʻano maʻi laha ʻole i lohe ʻole ʻia e ka poʻe he nui, akā he mea nui e ʻike e pili ana, ʻo ia ka Costello Syndrome. E kamaʻilio kākou e pili ana i ia mea me nā kikoʻī hou aku, me ka maʻalahi loa. Manaʻo paha ʻoe ʻaʻole pili kēia iaʻu, akā e pono kēia ʻike e kōkua i kekahi i kekahi lā.

He aha ka Costello Syndrome?

I ka ʻōlelo maʻalahi, he maʻi genetic laha ʻole ʻo Costello Syndrome e hiki ke hoʻopilikia i nā ʻāpana he nui o ke kino. Eia kekahi laʻana, hiki iā ia ke hoʻopilikia i nā ʻōnaehana kino he nui, e like me ka lolo, nā iwi, ka puʻuwai, nā ʻōpū, nā ʻiʻo, nā puʻupaʻa, a me ka ʻili.

I kēia manawa, e noʻonoʻo, he mau pūnaewele ko kākou i loko o ko kākou kino. ʻO kēia mau pūnaewele ka mea e ulu a hoʻoponopono iā kākou. ʻO ka maʻamau, ulu a māhelehele kēia mau pūnaewele e like me kekahi kaohi. Eia nō naʻe, i loko o ka maʻi Costello, me he mea lā e loaʻa ana i kēia mau pūnaewele kahi kauoha e "ulu a māhelehele nui loa, wikiwiki loa." ʻO ke kumu o kēia, aia kahi kīnā i loko o nā protein e kaohi ana i ka ulu ʻana o nā pūnaewele. Ma kēia ʻano, hoʻonui nui nā pūnaewele me ka pono ʻole a me ka wikiwiki, a aia kahi piʻi o ka pilikia o ka ulu ʻana o nā puʻupuʻu, ʻo ia hoʻi nā maʻi kanesa a me nā mea ʻaʻole maʻi kanesa .

Pehea ka maʻamau o kēia ʻano?

ʻO ka ʻoiaʻiʻo, he maʻi laha ʻole ka maʻi Costello. Ua manaʻo ʻia aia ma waena o 100 a me 1500 mau kānaka ma ka honua holoʻokoʻa e ʻeha nei i kēia maʻi. ʻO ia hoʻi, he maʻi laha ʻole loa ia.

He aha nā hōʻailona o ka maʻi Costello?

Hiki ke ʻokoʻa nā hōʻailona o ka maʻi Costello mai kēlā kanaka a kēia kanaka, a hiki ke ʻokoʻa ke koʻikoʻi o nā hōʻailona. Hoʻopilikia kēia mau hōʻailona i nā ʻāpana like ʻole o ke kino. E nānā kākou i nā hōʻailona nui e ʻike ʻia:

• Maʻi puʻuwai: Hiki ke loaʻa nā kūlana e like me ke kuʻina o ka puʻuwai (`arrhythmia`) a me ka mānoanoa o ka ʻiʻo puʻuwai (`hypertrophic cardiomyopathy`). ʻO kēia paha nā hōʻailona weliweli loa.
• Nā pilikia hānai waiū a me ka hānai ʻana: ʻOi loa aku i ka wā kamaliʻi, hiki ke paʻakikī i kahi pēpē ke hānai waiū a me ka ʻai. I kekahi manawa pono paha kahi ʻōmole hānai .
• Piʻo ʻana o ka iwi kuamoʻo: Hiki ke ʻike ʻia nā kūlana e like me ke piʻo ʻana o ka iwi kuamoʻo (scoliosis) a i ʻole ke piʻo ʻana i mua (kyphosis).
• Ke kīnā noʻonoʻo a me nā ʻano ʻē o ka ulu ʻana o ka lolo: Hiki ke loaʻa ke kīnā noʻonoʻo iki a kaulike. Hiki ke ʻike ʻia kekahi mau ʻano ʻē i ka ulu ʻana o ka lolo, e like me ka malformation Chiari .
• Nā pilikia ʻike maka a me nā niho: Hiki ke loaʻa ka hemahema o ka ʻike maka, nā pilikia me ke kūlana a i ʻole ka ulu ʻana o nā niho.
• Nā loli ʻano i loko o nā puʻupaʻa: Aia paha kekahi mau loli i ke ʻano a i ʻole ke kūlana o nā puʻupaʻa.
• Ka nāwaliwali o nā ʻiʻo (hypotonia): Hiki ke palupalu iki nā ʻiʻo o ke kino a haʻahaʻa ka ikaika.

Nā ʻano kino i ʻike ʻia

Ma waho aʻe o kēia mau hōʻailona, ​​​​hiki ke ʻike ʻia kekahi mau hiʻohiʻona ʻokoʻa i ke ʻano o nā keiki a me nā pākeke me Costello syndrome:

• Ka kulou nui ʻana o nā hono o ka manamana lima a me ka pulima.
• Loaʻa kahi aʻalolo Achilles paʻa ma ke kua o ke kuʻekuʻe wāwae.
• He poʻo nui aʻe ma mua o ka awelika, he waha nui, he lehelehe piha, he puka ihu ākea, a he ʻano ʻāʻī iki ke ʻano o ka maka .
• ʻO ka ʻili palahalaha ma nā lima a me nā wāwae (`cutis laxa`).
• Lohi ka ulu ʻana i ka wā kamaliʻi a me ka emi ʻana o ke kiʻekiʻe ma hope o ka wā makua.
• Ua lilo kekahi mau wahi o ka ʻili i ʻeleʻele ma mua o ka ʻili a puni (hyperpigmentation).

No ke aha i hoʻokumu ʻia ai nā tumors i kēia ʻano?

E like me kaʻu i ʻōlelo ai ma mua, ʻo ka hoʻololi ʻana o ka genetic e hoʻoulu ai i ka maʻi Costello e hoʻoulu ai i nā cell e ulu a māhele koke. ʻO kēlā mahele nui o nā cell ke kumu o nā tumors. Hiki i kēia mau tumors ke maʻi kanesa a ʻaʻole paha (benign).

Eia kekahi o nā ʻano nati maʻamau:

• Papilloma (ʻaʻole maʻi kanesa): He mau ulu liʻiliʻi kēia e like me ka wart e hiki ke ʻike ʻia a puni ka ihu, ka waha, a i ʻole ka anus.
• Rhabdomyosarcoma (maʻi ʻaʻai): He maʻi ʻaʻai kēia e kū mai ana i loko o nā ʻiʻo i ka wā kamaliʻi.
• Neuroblastoma (maʻi ʻaʻai): He maʻi ʻaʻai kēia o nā hunaola nerve i ʻike nui ʻia i nā keiki a me nā ʻōpio.
• ʻO ka maʻi kanesa cell transitional (maʻi ʻaʻai): He ʻano maʻi ʻaʻai mimi kēia e kū mai ana i nā pākeke.

He aha ke kumu o ka maʻi Costello?

ʻO ke kumu nui o ka maʻi Costello he mutation i loko o ka gene HRAS i loko o kā mākou mau genes. Hoʻopuka kēia gene HRAS i kahi protein i kapa ʻia ʻo H-Ras. ʻO ke kuleana o kēia protein ka hoʻomalu ʻana i ka ulu ʻana o nā cell a me ka mahele ʻana o nā cell.

E noʻonoʻo i kēia protein H-Ras e like me ke kuapo kukui. Ke loli ka gene HRAS, e pau ka hana ʻana o ke kuapo "off" o kēia protein. Me he mea lā e "on" mau ana ka protein. ʻO ka hopena, loaʻa mau i nā cell nā hōʻailona pono ʻole e "ulu hou aku, māhele hou aku." ʻO kēia ke kumu genetic kumu o ka maʻi Costello.

He mea kēia i loaʻa mai nā hanauna mai?

ʻO ka hapa nui o nā hihia o ka maʻi Costello i hoʻokumu ʻia e nā loli genetic hou ('de novo' mutations). ʻO ke ʻano kēia, hiki i kahi keiki ke loaʻa i ke ʻano ma ke ʻano maʻamau, me ka ʻole o kekahi o ka ʻohana i loaʻa i ke ʻano ma mua.

Akā, kākaʻikahi loaHiki i nā keiki ke hoʻoilina i kēia maʻi mai ko lākou mau mākua mai. Ua kapa ʻia kēia he "autosomal dominant". ʻO ke ʻano kēia, inā hoʻokahi wale nō makua i loaʻa ka ʻokoʻa genetic, aia ma kahi o 50% ka manawa e hoʻoilina ai ke keiki.

ʻO wai ka mea hiki ke hoʻomohala i ka maʻi Costello?

Hiki ke loaʻa kēia maʻi i kekahi. E like me ka mea i ʻōlelo ʻia ma mua, hiki pinepine ia me ka manaʻo ʻole, me ka ʻole o ka mōʻaukala ʻohana.

Pehea e ʻike ʻia ai kēia maʻi? (Diagnosis)

ʻIke pinepine ʻia ka maʻi Costello i ka wā kamaliʻi. E nānā pono mua ke kauka i nā hōʻailona o ke keiki. A laila, e hana ʻia kahi hoʻāʻo genetic e hōʻoia i ka ʻano genetic. E nīnau pū ke kauka inā he moʻolelo ko kekahi o ka ʻohana no nā maʻi genetic, no ka mea, ʻaʻole hiki ke hoʻoilina pinepine ʻia.

I kekahi manawa, hiki ke like nā hōʻailona o ka maʻi Costello me nā hōʻailona o nā kūlana genetic ʻē aʻe, e like me ka cardiofaciocutaneous syndrome (CFC syndrome) a me Noonan syndrome . No laila, he mea nui ka hoʻāʻo genetic no ka ʻike pololei. ʻO ia ka mea e hiki ai ke hoʻokaʻawale i kēia mau kūlana mai kekahi i kekahi.

He aha nā lāʻau lapaʻau no ka maʻi Costello?

ʻO ka mea pōʻino, ʻaʻohe lāʻau lapaʻau paʻa no ka maʻi Costello. No laila, ʻo ka mālama ʻana ke kau nui ʻia ma ka kaohi ʻana a me ka mālama ʻana i nā hōʻailona. Aia kekahi mau koho lapaʻau:

• ʻoki kino: Pono paha ke ʻoki kino no nā mea e like me ka maʻi puʻuwai, nā maʻi ʻai, a me ka stenosis spinal.
• Nā lāʻau lapaʻau: Hāʻawi ʻia nā lāʻau lapaʻau e like me nā beta-blockers, nā calcium channel blockers, a me nā lāʻau antiarrhythmic e kāohi i nā hōʻailona maʻi puʻuwai.
• No ka hoʻomaikaʻi ʻana i ka ʻike: e ʻaʻahu i nā aniani maka a i ʻole e hana i ke ʻoki maka.
• No ka hoʻoikaika ʻana i nā ʻiʻo a me ka mālama ʻana i nā ʻano ʻē o ka ulu ʻana o ka iwi: ke kau ʻana i nā kākoʻo kūikawā (`brace`), ka hāʻawi ʻana i ka hoʻōla kino a me ka hoʻōla hana.
• Nā Papahana Hoʻonaʻauao Kūikawā: Kuhikuhi ʻana i nā papahana hoʻonaʻauao kūikawā e kākoʻo i ke aʻo ʻana o ke keiki ma ke kula.
• Lapaʻau no nā ʻōpū: ʻO ke ʻoki kino a i ʻole chemotherapy no nā ʻōpū maʻi kanesa. Ka wehe ʻana i nā ʻōpū ʻaʻole maʻi kanesa e like me nā papillomas me ka hoʻohana ʻana i ka hau maloʻo .

ʻO ka mea nui loa, ʻo ia ka hahai ʻana i kēia mau lāʻau a pau e like me ke kuhikuhi a ke kauka, e like me ke kūlana a me nā hōʻailona o ke keiki.

Pehea lā ke ʻano o ke ola me kēia kūlana?

He maʻi ia no ke ola holoʻokoʻa o ka Costello syndrome.ʻAʻohe lāʻau lapaʻau kūikawā no ia mea. Hoʻoholo ʻia ke ola o kekahi me kēia maʻi e ka koʻikoʻi o nā hōʻailona, ​​ʻoiai nā hōʻailona o ka puʻuwai.

Eia nō naʻe, inā ʻike mua ʻia ka maʻi a hoʻomaka koke ʻia ka lāʻau lapaʻau, hiki ke kōkua ʻia ke keiki e ola i kahi ola maikaʻi. ʻAʻole wale ka lāʻau lapaʻau e kāohi i nā hōʻailona, ​​akā mālama pū kekahi i nā puʻupuʻu i hoʻokumu ʻia e ka mahele nui ʻana o nā cell. No laila, aia ka manaʻolana.

Hiki ke pale ʻia ka maʻi Costello?

ʻOiaʻiʻo, he mea paʻakikī loa ke pale aku i kēia maʻi. No ka mea, ʻo ka hapa nui o ka manawa, hiki koke mai ia, me ka manaʻo ʻole ʻia. Eia nō naʻe, inā ʻike ʻoe he maʻi genetic kekahi o kou ʻohana e like me Costello syndrome, hiki iā ʻoe ke loaʻa kahi manaʻo o kou pilikia ma ke kamaʻilio ʻana me ke kauka a me ka loaʻa ʻana o ke aʻoaʻo genetic ('genetic counseling') a, inā pono, 'genetic testing' .

I ka manawa hea e pono ai iaʻu ke ʻike i ke kauka?

Inā ua ʻike ʻia kāu keiki me ka maʻi Costello a ke hōʻike nei i nā hōʻailona e hoʻopilikia nei i ko lākou nohona maʻamau , ʻoiai inā paʻakikī iā lākou ka ʻai ʻana a i ʻole ke ulu ʻole nei, e ʻike koke i ke kauka.

Aia kekahi mau manawa e pono ai ʻoe e hele i ka lumi pilikia, ʻoiai inā loaʻa iā ʻoe kekahi o kēia mau hōʻailona pili i ka puʻuwai:

• Ka puʻuwai wikiwiki a lohi paha i ʻano ʻē.
• Paʻakikī ka hanu ʻana.
• ʻEha ka umauma.
• Manaʻo poniuniu a poʻo māmā paha.

Inā ʻike ʻoe i kēia mau hōʻailona, ​​mai hoʻokaʻulua.

He aha nā nīnau koʻikoʻi e nīnau aku ai i ke kauka?

Ke ʻike ʻoe he maʻi laha ʻole kāu keiki, he mea maʻamau ka nui o nā nīnau. He mea nui e nīnau i kāu kauka i nā nīnau e like me kēia:

• He aha nā hopena ʻaoʻao o nā lāʻau lapaʻau i hāʻawi ʻia?
• Pono anei kaʻu keiki i ke ʻoki kino ?
• ʻEhia pinepine e pono ai iaʻu ke hele mai no nā hoʻokolohua e nānā i nā hōʻailona o kaʻu keiki?
• Pono anei kaʻu keiki i nā lawelawe a kahi loea ? (e.g. cardiologist, geneticist)

ʻO ka mea hope loa, nā mea e hoʻomanaʻo ai (Leka Lawe-Home)

He mea maʻamau ka manaʻo kaumaha a me ka hopohopo ke ʻike ʻoe he maʻi genetic kakaʻikahi kāu keiki e like me Costello Syndrome. Pēlā nō ia no nā mea a pau. Akā e hoʻomanaʻo, ʻaʻole ʻoe hoʻokahi. Ke hana nei nā kauka a me nā limahana mālama ola i kā lākou mea maikaʻi loa e hāʻawi i kāu keiki i ka lāʻau lapaʻau a me ka mālama maikaʻi loa a lākou e pono ai.

ʻO ka mea nui loa, ʻo ia ka makaʻala mau i nā hōʻailona o kāu keiki. E makaʻala pono i nā puʻupuʻu liʻiliʻi i hiki ke hana ʻia e ka mahele nui ʻana o nā cell. ʻO ka ʻike mua ʻia a me ka mālama ʻia ʻana o kēia mau mea, ʻoi aku ka maikaʻi o ka hopena.

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

ʻO Costello Syndrome, nā maʻi genetic, nā maʻi laha ʻole, ke olakino o ke keiki, ka gene HRAS, ka pilikia o ka maʻi kanesa, nā hōʻailona