He aha ka McCune-Albright Syndrome? E kamaʻilio kākou e pili ana i ia mea!

Mālama mākou a pau i ke olakino o kā mākou mau keiki, ʻeā? I kekahi manawa, he mea maʻamau ka makaʻu iki ʻana i ka wā e ʻike ai mākou i nā loli liʻiliʻi i ke kino o kā mākou mau keiki a mākou i manaʻo ʻole ai. Malia paha he wahi ʻeleʻele ma ka ʻili, a i ʻole he loli iki i ka ulu ʻana o ka iwi, a i ʻole kekahi mea e like me ke keiki e komo ana i ka wā ʻōpio ma mua o ka mea i manaʻo ʻia. ʻAʻole koʻikoʻi mau kēia mau mea, akā i kekahi manawa hiki iā lākou ke lilo i mau hōʻailona o kahi maʻi genetic laha ʻole. ʻO kekahi o ia mau maʻi genetic laha ʻole, akā he mea pono ke ʻike e pili ana i ka maʻi genetic a mākou e kamaʻilio ai i kēia lā ʻo McCune-Albright Syndrome.

He aha ka McCune-Albright Syndrome?

I ka ʻōlelo maʻalahi, he maʻi hoʻoilina ʻo McCune-Albright syndrome. Hoʻopilikia nui ia i nā iwi, ka ʻili, a me ka ʻōnaehana endocrine o ke keiki, a i ʻole nā ​​​​gland e hana ana i nā hormones . Hiki i ke kūlana ke hana i nā mea e like me ka ʻeha o ka iwi (a mākou e kapa nei he "fibrous dysplasia"). Hoʻoulu pū ia i nā kiko kūikawā (pigmentation) ma ka ʻili, a lilo kekahi mau gland e kāohi ana i ka ulu ʻana i mea hana nui.

E hoʻomanaʻo, ʻaʻole paha e hoʻopilikia nui ʻia kekahi mau keiki e kēia maʻi, me nā hōʻailona liʻiliʻi loa. Eia nō naʻe, no kekahi poʻe, hiki ke ʻoi aku ka ʻino, i kekahi manawa hiki ke hoʻoweliweli i ke ola. No laila he mea nui e makaʻala i kēia.

ʻO wai ka mea i hoʻopilikia nui ʻia e kēia kūlana?

ʻO ka maʻi McCune-Albright ka hopena o kahi hoʻololi genetic hou . ʻO ke ʻano kēia, ʻaʻole ia he mea i hoʻoilina ʻia mai nā mākua a i nā keiki. ʻAʻole hiki iā mākou ke wānana i ka wā a pehea e hana ʻia ai kēia mau hoʻololi genetic. ʻO ka maʻamau, hana ʻia kēia hoʻololi genetic ma hope o ka hāpai ʻana/fertilization, i ka wā e hāpai ʻia ai ke keiki i loko o ka ʻōpū o ka makuahine, ma muli o kahi hewa i ka mahele ʻana o nā cell a me ka replication.

E hoʻomanaʻo i kēia: ʻAʻole i hana ʻia kēia hoʻololi ʻana o ka genetic e kekahi mea a nā mākua i hana ai a i ʻole i hana ʻole ai i ka wā hāpai. No laila, mai hopohopo no ia mea.

Pehea ka maʻamau o kēia ʻano?

ʻOiaʻiʻo, he maʻi laha ʻole ka maʻi McCune-Albright. Ma ka honua holoʻokoʻa, ua manaʻo ʻia ua loaʻa kēia maʻi ma kahi o hoʻokahi i kēlā me kēia haneli tausani a i ʻole hoʻokahi miliona mau hānau ʻana . No laila, ʻaʻole ia he mea i ʻike pinepine ʻia.

Pehea ka hopena o ka McCune-Albright Syndrome i ke kino o kahi keiki?

Hiki i kēia kūlana ke hoʻopilikia i ke kino o ke keiki ma nā ʻano like ʻole. ʻOi aku ka maikaʻi, hiki iā ia ke hoʻopilikia i ka ulu ʻana o ka iwi a me ka hana o ka ʻōnaehana endocrine (ʻōnaehana hormonal), hiki ke hoʻopilikia i ke kiʻekiʻe a me ke kaumaha o ke keiki .

Eia kekahi, e ʻike paha ʻoe i nā kiko ʻeleʻele kūikawā ma ka ʻili o kāu keiki (i kapa ʻia ʻo "café-au-lait spots"). ʻO kekahi mea nui ʻē aʻe, ʻo ia kekahi mau keikiKe hōʻike nei i nā hōʻailona o ka wā ʻōpio i ka wā ʻōpiopio loa.

Inā manaʻo ʻoe ua pilikia kāu keiki i ka ulu ʻana a me ka ulu ʻana ma ke ʻano maʻamau ma muli o kēia mau hōʻailona, ​​​​he mea nui loa ia e ʻimi koke i ke aʻo lapaʻau. E hāʻawi ke kauka i kahi hoʻolālā lapaʻau e pili pono ana i kāu keiki a e kōkua i ka kaohi ʻana i nā hōʻailona.

He aha nā hōʻailona o ka McCune-Albright Syndrome?

ʻIke nui ʻia nā hōʻailona o kēia ʻano ma nā iwi, ka ʻili, a me ka ʻōnaehana endocrine (ʻōnaehana hormonal) . Eia naʻe, ʻaʻole ʻike ʻia kēia mau hōʻailona ma ke ʻano like a i ʻole me ke koʻikoʻi like i kēlā me kēia keiki. Hiki ke ʻokoʻa lākou mai kekahi keiki a i kekahi.

Nā hōʻailona iwi

ʻO ke ʻano nui a maʻamau e pili ana i ka iwi o kēia ʻano, ʻo ia ke ʻano i kapa ʻia ʻo "fibrous dysplasia." I ka ʻōlelo maʻalahi, ʻo ia ka wā e ulu ai ka ʻiʻo pala i loko o nā iwi ma kahi o ka ʻiʻo iwi olakino. No laila, i ka ulu ʻana o ke keiki, lilo nā wahi i loaʻa ai kēia ʻiʻo fibrous i nāwaliwali. Hiki i kēia ke alakaʻi i nā haki, a i ʻole hiki i nā iwi ke ulu maʻamau a hoʻololi ʻia ke ʻano . Ma muli o ka nui o nā iwi i hoʻopilikia ʻia, hiki i kēia ʻano "fibrous dysplasia" ke akahai i kekahi poʻe a koʻikoʻi i kekahi.

ʻO kekahi mea, he mea kākaʻikahi loa ia, ʻo ia hoʻi, ʻaʻole i hiki i ka 1% o ka poʻe me kēia maʻi, hiki i kēia "fibrous dysplasia" ke hana i nā ʻeha/tumors o ka iwi maʻi kanesa. He mea kākaʻikahi loa ia, akā he mea maikaʻi ke makaʻala.

ʻO nā hōʻailona ʻē aʻe e pili ana i ka iwi:

• Ka ulu ʻana o nā iwi maka me ke ʻano like ʻole.
• ʻEha iwi a me ka ʻoluʻolu ʻole.
• Paʻakikī i ka hele ʻana a i ʻole ka neʻe ʻana (Pohō o ka neʻe ʻana).
• Nā maʻi e hoʻonāwaliwali ai i nā iwi, e like me ka 'Rickets' a i ʻole ka 'osteomalacia'.
• ʻO ke skoliosis.
• Kino pōkole.
• ʻO ka ulu ʻana o nā iwi ma nā wāwae i kūlike ʻole (hiki i kēia ke kumu o ka hele wāwae ʻana me ka ʻopaʻa).

Nā hōʻailona ʻili

ʻOkoʻa ka ʻili o kekahi mau pēpē i hānau ʻia me ka maʻi McCune-Albright mai nā wahi ʻē aʻe o ko lākou ʻili. Hiki i kēia mau kiko ke ʻano mai ka ʻeleʻele māmā a i ka ʻeleʻele ʻeleʻele . Loaʻa iā lākou nā palena ʻokiʻoki. Ua kapa ʻia kēia mau mea he mau kiko café-au-lait. Hiki ke ʻike ʻia ma kekahi ʻaoʻao o ke kino. I ka ulu ʻana o ka pēpē, hiki i kēia mau kiko ke ʻike nui ʻia a hoʻonui ʻia ka nui.

Nā hōʻailona o ka ʻōnaehana endocrine

Hiki i kēia kūlana ke hoʻopilikia i ka ʻōnaehana endocrine o ke keiki, ka ʻōnaehana o nā glands e hana ana i nā hormones. ʻO ka hopena, hiki i nā keiki ke hōʻike i nā hōʻailona o ka wā ʻōpio i ka wā ʻōpiopio loa . Hiki i nā kaikamahine ke hoʻomaka i ka menstruation i ka wā ʻōpiopio o ʻelua makahiki.Hiki kēia ma muli o ka hana ʻana o nā cysts i loko o kā lākou ovaries i ka estrogen keu, kahi hormone wahine. Hiki i nā keikikāne ke ʻike i kēia mau hōʻailona mua o ka wā ʻōpio.

Ma kahi o 50% o ka poʻe me ka maʻi McCune-Albright he nui ka nui o ka thyroid gland . Ke nui ka nui o ka thyroid gland, hana nui ia i ka hormone thyroid. Ua kapa ʻia kēia ʻano he hyperthyroidism. Hiki i kēia ke hana i nā hōʻailona e like me ka puʻuwai wikiwiki, ka hou nui, ke koko kiʻekiʻe, a me ka pohō kaumaha .

ʻO nā hōʻailona ʻē aʻe e pili ana i ka ʻōnaehana endocrine:

• Ka hana nui ʻana o nā hormones ulu e ka pituitary gland. Hiki i kēia ke hana i nā lālā i hoʻonui ʻia, nā hiʻohiʻona helehelena poepoe, a/a i ʻole nā ​​​​maʻi e like me ka arthritis (acromegaly).
• Hoʻopuka nui nā kelepa adrenal i ka hormone cortisol. Hiki i kēia ke alakaʻi i kahi kūlana i kapa ʻia ʻo Cushing's syndrome, kahi i hōʻike ʻia e ka momona a me ka lohi o ka ulu ʻana.

He aha ke kumu o kēia?

Hoʻokumu ʻia ka maʻi McCune-Albright e kahi mutation i loko o ka gene GNAS1. Hoʻopuka ka gene GNAS1 i nā protein e kāohi i ka hana hormone. No laila, i ka wā e loaʻa ai kahi mutation i loko o kēia gene, hoʻomaka kahi enzyme i kapa ʻia ʻo adenylate cyclase (he protein nō hoʻi) e hana i ka nui o ka hormone. ʻO ia ke kumu o kēia mau hōʻailona.

ʻO ka mea nui, ʻo ia ka hana ʻana o kēia hoʻololi ʻana o ka genetic ma hope o ka hāpai ʻia ʻana o ke keiki i loko o ka ʻōpū o ka makuahine (somatic mutation). ʻO ia hoʻi, ʻaʻole kēia he kūlana i hoʻoilina ʻia mai nā mākua a i ke keiki. ʻAʻole kēia ma muli o kekahi hewa o ka makuahine a i ʻole ka makuakāne, a i ʻole kekahi mea a lākou i hana ai a i ʻole i hana ʻole ai i ka wā hāpai. Eia kekahi, ʻaʻohe hihia i hōʻoia ʻia no kahi kanaka me ka maʻi McCune-Albright e loaʻa ana kahi keiki me ke kūlana like. ʻAʻole i loaʻa ke kumu pololei no kēia "somatic mutation". Hōʻike ka noiʻi he mau hanana kūhelu ʻole kēia.

Pehea e ʻike ʻia ai kēia maʻi?

ʻIke pinepine ʻia ka maʻi McCune-Albright i ka wā kamaliʻi. E nānā ke kauka i ke keiki a nānā i nā ʻano ʻē o ka ʻōnaehana endocrine, nā ʻeha ʻili e like me nā "café-au-lait spots" a me nā "fibrous dysplasia". Hana pinepine ʻia ka ʻike ma hope o ka ʻike ʻia ʻana o nā hōʻailona o ka wā ʻōpiopio a i ʻole ka ulu ʻana o ka iwi maʻamau ʻole .

He aha nā ʻano hoʻokolohua i hana ʻia no kēia?

ʻO nā hoʻāʻo e ʻike ai i kēia maʻi:

• Nā hoʻāʻo koko: E nānā i ka hana o ka ʻōnaehana endocrine (ʻōnaehana hormone).
• Hoʻāʻo hoʻoilina:E ʻike i ka hoʻololi ʻana o ka ʻano hoʻoilina e hoʻoulu ai i kāu mau hōʻailona. ʻO ka maʻamau, pili kēia i ka lawe ʻana i kahi laʻana liʻiliʻi (biopsy) o ka ʻili a i ʻole nā ​​​​ʻiʻo ʻē aʻe a hoʻāʻo iā ia.
• Nā hoʻokolohua kiʻi: Hana ʻia nā hoʻokolohua e like me nā X-ray e nānā i ka ulu ʻana o ka iwi.

Pehea e mālama ʻia ai?

ʻOkoʻa ke ʻano o ka mālama ʻana no ka maʻi McCune-Albright mai kēlā kanaka a kēia kanaka. ʻAʻohe lāʻau lapaʻau no ke ʻano. ʻO ka pahuhopu nui o ka mālama ʻana, ʻo ia ka hōʻemi a me ka kāohi ʻana i nā hōʻailona.

Hiki ke hana i kēia mau mea ma ke ʻano he lāʻau lapaʻau:

• ʻO nā lāʻau lapaʻau no nā maʻi ulu iwi, e like me bisphosphonates, e hōʻemi i ka pilikia o nā haki.
• Nā lāʻau lapaʻau e kāohi ai i ka wā ʻōpiopio, no ka laʻana, nā mea hoʻopaʻa aromatase.
• Nā lāʻau lapaʻau no ke ʻano 'hyperthyroidism', no ka laʻana 'antithyroids'.
• Loaʻa ka hoʻoponopono kino a me ka hoʻoponopono hana no nā pilikia neʻe.
• ʻO ke ʻoki kino no nā pilikia ulu o ka iwi, ʻoiai ka fibrous dysplasia.

Hiki iaʻu ke hōʻemi i ka pilikia o ka loaʻa ʻana o kēia maʻi i kaʻu keiki?

E like me kā mākou i kūkākūkā ai ma mua, ua hoʻokumu ʻia ka maʻi McCune-Albright e kahi hoʻololi genetic hou. No laila, ʻaʻohe mea hiki iā mākou ke hana e pale aku ai i kona hiki ʻana mai.

Inā ʻoe e hāpai ana i kahi pēpē, he manaʻo maikaʻi e kamaʻilio me kāu kauka e pili ana i ke aʻoaʻo genetic e ʻike ai inā ʻoe i ka pilikia no nā kūlana genetic ʻē aʻe. Eia nō naʻe, ʻo kēia kūlana kikoʻī, ʻo McCune-Albright syndrome, ʻaʻole ia he mea hiki ke pale ʻia ma mua.

Inā loaʻa kēia maʻi i kaʻu keiki, he aha kaʻu e manaʻo ai?

ʻO ka wānana no kāu keiki e pili ana i ke koʻikoʻi o ka maʻi. Eia nō naʻe, ola ka hapa nui o ka poʻe i kahi ola maʻamau. E kōkua kāu hui lapaʻau iā ʻoe e ʻike i ka lāʻau lapaʻau maikaʻi loa e kōkua i ka hōʻoluʻolu ʻana i nā hōʻailona o kāu keiki a hoʻemi i ko lākou ʻoluʻolu ʻole.

ʻOi aku paha ka pōkole o kāu keiki ma mua o nā poʻe ʻē aʻe i ko lākou mau makahiki no ka mea e pani koke ana nā papa ulu ma muli o ka wā ʻōpiopio mua. Eia nō naʻe, inā ʻike ʻia a mālama ʻia ke ʻano i ka wā mua, aia kahi manawa kūpono e hiki ke hoʻopaneʻe ʻia kēia mau loli ʻōpiopio.

He mea nui loa ka mālama ʻana i nā pae holomua o ka ulu ʻana o kāu keiki i hiki iā ʻoe ke hōʻoia i ka ulu pono ʻana o kāu keiki.

He liʻiliʻi loa ka pilikia o ka loaʻa ʻana o ka maʻi kanesa mai kēia maʻi, no laila he mea nui e lawe i kāu keiki no nā hoʻokolohua lapaʻau maʻamau.

ʻOi aku hoʻi, ʻo nā wahine me McCune-Albright syndrome e piʻi aʻe ka pilikia o ka loaʻa ʻana o ka maʻi ʻaʻai umauma i ka wā ʻōpiopio ma mua o ka wā maʻamau, no laila he mea nui e kamaʻilio me kāu kauka e pili ana i kēia a loaʻa nā hoʻokolohua i ʻōlelo ʻia.

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

E ʻike i ke kauka inā loaʻa i kāu keiki nā hōʻailona o ka maʻi McCune-Albright. Eia kekahi laʻana:

• Ka hoʻomaha pinepine ʻole, ka hana nui, ka huhū koke, a me ka hiamoe ʻole (he mau hōʻailona paha kēia o ka hyperthyroidism).
• Nā loli i ke ʻano o nā iwi ma muli o nā ʻano ʻē o ka ulu ʻana o ka iwi.
• Ka paʻakikī o ka hele wāwae.
• Hoʻomaka ka maʻi ʻōpū i ka wā ʻōpiopio loa.
• ʻEha nui i nā iwi.

Pilikia! Inā manaʻo ʻoe ua haki ka iwi o kāu keiki (e like me ka ʻeha, ka pehu ʻana, ka hiki ʻole ke neʻe a hāpai paha i ke kaumaha, ka palapū), e hele koke i kahi lumi pilikia.

He aha nā nīnau āu e nīnau ai i ke kauka?

Ke ʻike ʻoe he maʻi kēia no kāu keiki, he mea kōkua paha ke nīnau i ke kauka i nā nīnau e like me kēia:

• Pono anei kaʻu keiki i ka lāʻau lapaʻau e hōʻemi i kāna mau hōʻailona?
• Pono anei kaʻu keiki i ke ʻoki ʻana no ka fibrous dysplasia?
• Aia kekahi hopena ʻaoʻao i nā lāʻau lapaʻau i hāʻawi ʻia i kaʻu keiki e kāohi i nā hōʻailona?

ʻO ka ʻike ʻana he maʻi genetic kakaʻikahi kāu keiki hiki ke hoʻoluhi i nā mākua hou. Akā e hoʻomanaʻo, hiki i ka ʻike mua ʻana a me ka mālama ʻana ke kōkua i kāu keiki e hoʻomanawanui i nā hōʻailona. Hiki i kāu kauka ke kuhikuhi iā ʻoe e ʻike i kahi kākāʻōlelo genetic, he loea i ka genetics. Hiki iā lākou ke kōkua iā ʻoe e hoʻomaopopo maikaʻi i ka hōʻailona a hāʻawi iā ʻoe i ke kākoʻo naʻau āu e pono ai. Hiki iā lākou ke alakaʻi iā ʻoe i nā ʻanuʻu hiki iā ʻoe ke hana e kōkua i kāu keiki e ola i kahi ola olakino a hoʻokō.

Nā mea nui e hoʻomanaʻo (Leka Lawe-Home)

He maʻi laha ʻole ka McCune-Albright syndrome, akā he maʻi koʻikoʻi paha ia.

• Hoʻopilikia kēia i nā iwi, ka ʻili, a me ka ʻōnaehana hormonal .
• ʻO nā hōʻailona nui ka fibrous dysplasia (ʻiʻo ʻeha i loko o nā iwi), nā kiko café-au-lait (nā kiko ʻeleʻele ma ka ʻili), a me ka wā ʻōpiopio o ke kino.
• ʻAʻole kēia he mea i hoʻoilina ʻia mai nā mākua mai; he hoʻololi hou ia o ka ʻano hoʻoilina.
• ʻOiai ʻaʻohe lāʻau lapaʻau piha, aia nā lāʻau lapaʻau maikaʻi e kaohi i nā hōʻailona.
• He mea nui loa ka ʻike mua ʻana a me ka mālama ʻana, a me ka nānā mau ʻana i nā kauka.
• ʻAʻole ʻoe hoʻokahi; e ʻimi i ke kākoʻo mai nā kauka a me nā kākā'ōlelo genetic.

Manaʻolana wau ua kōkua kēia ʻike iā ʻoe e hoʻomaopopo i kēia maʻi. E hoʻomanaʻo, inā he kānalua kou, mai kānalua e kamaʻilio me ke kauka.

ʻO McCune-Albright Syndrome, nā maʻi genetic, nā maʻi iwi, fibrous dysplasia, nā kiko ʻili, nā kiko café-au-lait, nā pilikia hormonal, ka wā ʻōpiopio, fibrous dysplasia, nā kiko café-au-lait, ʻōnaehana endocrine