Ua ʻike anei ʻoe i kēia maʻi laha ʻole i kapa ʻia ʻo Carney Complex?

Ua loli koke anei ke kala o kou ʻili, a ua ʻike paha ʻoe i nā kiko a i ʻole nā ​​kīnā ʻē? A i ʻole ua ʻike paha ʻoe i nā ulu liʻiliʻi a puʻupuʻu ma kou kino? E hopohopo iki paha ʻoe. I kekahi manawa, ʻaʻole mākou e nānā nui i kēia mau hōʻailona. Eia naʻe, ma hope o kēia mau hōʻailona, ​​aia paha kahi maʻi kakaikahi loa i kapa ʻia ʻo Carney Complex e pono ai ka nānā kūikawā. Mai hopohopo, e kamaʻilio mākou e pili ana i kēia me ka maʻalahi a ma ke ʻano hiki iā ʻoe ke hoʻomaopopo.

He aha maoli ka Carney Complex?

I ka ʻōlelo maʻalahi, ʻo Carney Complex kahi kūlana e hoʻopilikia ai i ke kala o ko mākou ʻili a hoʻoulu i nā puʻupuʻu ʻaʻole kanesa (benign), ʻo ia hoʻi, nā puʻupuʻu i maʻamau ʻole ka weliweli, e hana i loko o nā ʻiʻo pili o ke kino a me nā kelepa endocrine. Hoʻokumu pinepine ʻia kēia e kahi kumu genetic. ʻO ia hoʻi, hoʻokumu ʻia e kahi loli (mutation) i loko o kahi gene i hoʻoilina ʻia mai nā mākua a i nā keiki.

Aia kekahi mau inoa ʻē aʻe no kēia?

ʻAe, ua ʻike ʻia ka Carney Complex e kekahi mau inoa ʻē aʻe. Hiki i kāu kauka ke hoʻohana i kekahi o kēia mau inoa:

• ʻO ka maʻi Carney
• ʻO ka maʻi NAME - ʻO nā leka NAME ke kū nei no nevi (nā kiko e like me ka hānau ʻana), atrial myxoma (kahi ʻano puʻupuʻu e kū ana i loko o ka puʻuwai), myxoid neurofibromas (kahi ʻano puʻupuʻu e pili ana i nā aʻalolo), a me ephelides (nā kiko).
• ʻO ka maʻi LAMB - ʻO kēia kekahi no nā lentigines (nā kiko ʻeleʻele), atrial myxoma, a me ka blue nevi (nā māka hānau polū).

ʻO wai ka mea i loaʻa i ka Carney syndrome? Pehea ka maʻamau?

ʻO Carney Complex kahi maʻi e kū mai ana i nā poʻe i hānau ʻia me kahi hoʻololi genetic kikoʻī. Eia nō naʻe, ʻaʻole paha e ʻike ka nui o ka poʻe he maʻi ko lākou a hiki i ka wā e ulu ai nā hōʻailona. ʻOiai hiki ke ʻike ʻia kēia mau hōʻailona i kēlā me kēia manawa i ka wā kamaliʻi, ua ʻike ʻia ka hapa nui o ka poʻe e nā kauka ma kahi o 20 mau makahiki.

No ke ʻano maʻamau o kēia, he ʻano laha ʻole ʻo Carney Complex. E noʻonoʻo wale, aia ma lalo o 750 mau kānaka ma ka honua i ʻike maopopo ʻia me kēia ʻano. No laila, ʻaʻohe pono e hopohopo e pili ana i ia mea, akā he mea nui e makaʻala.

No ke aha i ulu ai kēia Carney Complex? He aha ke kumu?

He maʻi hoʻoilina ka Carney Complex.ʻO ke kumu nui o kēia kūlana, ʻo ia ka mutation i loko o kahi gene i kapa ʻia ʻo `(PRKAR1A gene)`. Ke kuhikuhi nei ka DNA i loko o kēia gene i ko mākou kino pehea e hana ai i kahi enzyme e kāohi ana i kahi protein. E noʻonoʻo i kēia gene ma ke ʻano he lumi hoʻomalu nui o kahi hale hana. Inā he mutation i loko o kēia `(PRKAR1A gene)`, ʻaʻole hiki ke hoʻomalu pono ʻia ka protein e pili ana i kēlā enzyme. A laila hoʻomaka nā cell e ulu me ka hiki ʻole ke kāohi a nui loa. Pēlā e hoʻomaka ai nā mea e like me nā puʻupuʻu e hana.

I ka hapanui o nā hihia, ma kahi o 70% , ua hoʻokumu ʻia ʻo Carney Complex e kahi keiki e hoʻoilina ana i kēia loli genetic mai kekahi o ko lākou mau mākua. Eia nō naʻe, no kekahi poʻe, ua hoʻokumu ʻia ke kūlana e kahi mutation genetic hou e kū mai ana, ʻo ia hoʻi, ʻaʻole ia i hoʻoilina ʻia mai kahi makua.

ʻO kēia mau hoʻololi genetic wale nō ke kumu?

ʻAʻole paha e loaʻa i nā kānaka a pau me Carney Complex kahi hoʻololi genetic. Manaʻo nā kānaka noiʻi hiki ke hana ʻia ke kūlana e nā loli i kahi ʻāpana o kahi chromosome (ka molekala i loaʻa nā genes). Eia nō naʻe, ke hoʻomau nei ka noiʻi ʻana i kēia.

He aha nā hōʻailona nui o ka Carney Complex?

Inā loaʻa iā ʻoe ka Carney syndrome, e ʻike paha ʻoe i kekahi mau loli i ka pigmentation o kou ʻili.

• Nā freckles a me nā lentigines: Hiki ke ʻike ʻia kēia mau mea ma nā wahi āpau o ke kino, akā ʻike pinepine ʻia ma:
• A puni nā maka
• Nā lehelehe i ʻūmiʻi ʻia.
• A puni ka ʻāpana hoʻokamakama. Hiki i kēia mau kiko ke like me nā kiko ʻeleʻele liʻiliʻi, ke kala o ka pī kofe.
• ʻO ka nevi polū: I kekahi manawa hiki ke ʻike ʻia nā māka hānau polū a ʻeleʻele paha ma ka ʻili.

He aha nā hōʻailona ʻē aʻe ma waho aʻe o nā loli ʻili?

Hiki i kekahi poʻe me Carney Complex ke loaʻa i nā myxoma cardiac. Hiki i kēia mau mea ke lilo i mea weliweli loa a pono e nānā kūikawā ʻia. Eia kekahi, hiki i nā ʻōpū ke ulu ma kekahi mau wahi ʻē aʻe. Eia kekahi laʻana:

• Nā iwi
• Nā umauma
• Nā ʻōpū wahine
• Nā kelepa hana hormone (ʻōnaehana endocrine) - no ka laʻana, ka kelepa thyroid a me nā kelepa adrenal.
• ʻŌnaehana nerve
• ʻIli
• ʻO ka ʻāpana o luna o ka puʻu (oropharynx)

ʻO ka mea nui, ʻo ka hapa nui o nā puʻupuʻu e ulu ana ma kēia ʻano ʻaʻole ia he maʻi kanesa (benign). ʻO ia hoʻi, ʻaʻole lākou e hōʻeha nui. Eia nō naʻe, i nā hihia kakaikahi, hiki i kekahi mau puʻupuʻu ke lilo i maʻi kanesa (malignant) . ʻO ia ke kumu he mea nui e loaʻa nā nānā lapaʻau maʻamau.

He maʻi lele anei kēia?

ʻAʻole, ʻaʻole loa. ʻAʻole he maʻi lele ʻo Carney Complex. ʻAʻole hiki iā ʻoe ke loaʻa mai kahi mea i loaʻa i ke ʻano.

Pehea e ʻike pololei ʻia ai kēia maʻi? (Diagnosis)

Inā kānalua ʻoe a i ʻole kāu kauka he Carney Complex kou, e hana mua kāu kauka i kahi hoʻokolokolo kino . E nīnau pū lākou e pili ana i kou mōʻaukala ʻohana. Pono paha ka hoʻāʻo ʻana i ka genetic e hōʻoia i ka hōʻailona.

He aha nā hoʻokolohua e hoʻohana ʻia no ka hōʻoia ʻana?

Ma muli o nā hōʻailona āu a kāu keiki paha e ʻike nei, hiki i nā kauka ke ʻōlelo i nā hoʻokolohua like ʻole. ʻO kekahi o kēia mau mea:

• Echocardiogram: He scan kēia e nānā i ka hana o ka puʻuwai. He mea nui loa kēia e nānā i nā puʻupuʻu puʻuwai.
• Nā hoʻāʻo koko a me ka mimi: Hana ʻia kēia mau hoʻāʻo e nānā i kekahi mau pae hormone.
• Nā hoʻāʻo kiʻi like ʻole: Hoʻohana ʻia nā hoʻāʻo e like me ka ultrasound, CT scan, MRI, a me X-ray e ʻike inā he mau ʻōpū i loko o ke kino.
• ʻO ka biopsy ʻili: Inā kānalua kahi ʻeha ʻili a ulu paha, lawe ʻia kahi ʻāpana liʻiliʻi o ka ʻili a nānā ʻia ma lalo o kahi microscope.
• Ka hoʻāʻo ʻana i ka hoʻoilina: He mea nui kēia e hōʻoia inā he mutation i loko o ka `(PRKAR1A gene)`.

He aha nā lāʻau lapaʻau no ka Carney Complex?

E paipai ke kauka i ka lāʻau lapaʻau e pili ana i nā hōʻailona kikoʻī āu a i ʻole kāu keiki. ʻO ka mea nui:

• ʻO ke ʻoki puʻuwai wehe e wehe i nā ʻōpū puʻuwai: Hiki i nā ʻōpū puʻuwai ke lilo i mea weliweli a pono ke ʻoki ʻia e wehe iā lākou.
• ʻO ke ʻoki kino e wehe i nā puʻupuʻu ma ka ʻili a i ʻole kekahi mau kelepa: Hoʻoneʻe ʻia hoʻi nā puʻupuʻu ma ka ʻili a i ʻole nā ​​​​puʻupuʻu ma nā kelepa hormone ma ke ʻoki kino, inā pono.

E kamaʻilio kāu kauka me ʻoe e pili ana i nā koho lapaʻau e kūpono loa iā ʻoe.

Hiki ke ho'ōla loa ʻia kēia?

He maʻi ola ka Carney Complex. ʻO ia hoʻi, ʻaʻole hiki ke ho'ōla piha ʻia. Akā, mai hopohopo, hiki i nā kauka ke kōkua iā ʻoe e hoʻokele i kāu mau hōʻailona a ola i kahi ola olakino. No kēia, he mea nui loa ka mālama pono ʻana a me ka nānā mau ʻana i nā kauka.

Aia kekahi mau ala e hōʻemi ai i ka pilikia o ka hoʻomohala ʻana i kēia maʻi?

ʻAʻohe ala e pale aku ai i ka Carney Complex no ka mea he maʻi genetic ia. Eia nō naʻe, inā hāpai ʻoe, hiki iā ʻoe ke loaʻa i kahi hoʻāʻo i kapa ʻia ʻo genetic amniocentesis e ʻike ai inā he mau hoʻololi genetic kāu pēpē.

Pehea e ʻike ai au inā aia wau i ka pilikia o ka loaʻa ʻana o kēia maʻi?

Inā loaʻa i kekahi o kou ʻohana - ʻoi aku hoʻi kou mau mākua - ka Carney Complex, he mea nui loa e kamaʻilio me kāu kauka e pili ana i ia mea i hiki ai ke hana ʻia nā hoʻokolohua e pono ai.

Inā loaʻa iaʻu kahi Carney Complex, he aha kaʻu e manaʻo ai?

Inā loaʻa iā ʻoe ʻo Carney Complex, pono ʻoe e hoʻomaopopo koke i kāu kauka inā loaʻa iā ʻoe kekahi mau hōʻailona hou. Hiki i kāu kauka ke ʻōlelo aku i nā hoʻokolohua maʻamau e nānā i kāu mau pae hormone a me ke olakino holoʻokoʻa. Eia kekahi laʻana:

• He echocardiogram makahiki .
• Nā hoʻāʻo koko.
• He loiloi ʻōnaehana endocrine.
• Nā nānā ʻili.
• No nā kāne, he hoʻokolokolo testicular a i ʻole ultrasound.

Pehea ka lōʻihi o koʻu ola ʻana me kēia maʻi?

E like me ka mea i ʻōlelo ʻia ma mua, he maʻi ola ʻo Carney Complex. He hoa koʻikoʻi loa kāu kauka i ka mālama ʻana i kāu mau hōʻailona a me ke olakino.

He aha ka mea hiki ke ʻōlelo ʻia e pili ana i ke ola o ka poʻe me kēia maʻi?

Hiki i ka poʻe me Carney Complex ke ola i kahi ola maʻamau , akā ʻo ka mea nui loa, ʻo ia ka loaʻa ʻana o nā hoʻokolohua lapaʻau maʻamau a me ka hahai ʻana i nā ʻōlelo aʻoaʻo a ke kauka.

Hiki ke hoʻi hou mai nā puʻupuʻu ma hope o ka mālama ʻia?

ʻAe, ʻo ka mea pōʻino, i kekahi manawa hiki i nā puʻupuʻu ke hoʻi hou mai ma hope o ka mālama ʻana. ʻO ia ke kumu he mea nui nā nānā lapaʻau maʻamau.

He maʻi ʻaʻai anei ʻo Carney Complex?

ʻO ka hapa nui o ka manawa, ʻo nā puʻupuʻu e ulu ana ma Carney Complex he benign . ʻO ke ʻano kēia ʻaʻole lākou e hōʻeha nui. Eia nō naʻe, i ka hala ʻana o ka manawa, hiki i kekahi mau puʻupuʻu ke lilo i maʻi kanesa/ʻino . No laila, he mea nui loa e haʻi i kāu kauka e pili ana i nā hōʻailona hou a e hana i nā hoʻokolohua āpau e pono ai.

He aha nā pilikia e hiki ke loaʻa mai ka Carney Complex?

ʻAe, hiki i kēia kūlana ke hana i kekahi mau pilikia.

• Inā he puʻupuʻu kou i loko o kou kelepa pituitary (ʻāpana o ka ʻōnaehana endocrine), hiki iā ia ke hoʻopilikia i ka hana ʻana o kou kino i ka hormone ulu. Inā nui ka hormone ulu i hana ʻia, hiki ke loaʻa nā kūlana penei:
• ʻO ka ʻāʻī o ke kino
• Nā loli i ke ʻano o ka helehelena
• Ka hoʻonui ʻana o nā lima a me nā wāwae i nā ʻano ʻē (acromegaly)
• Inā ulu nā ʻōpū i loko o nā kelepa endocrine ʻē aʻe, hiki iā lākou ke alakaʻi i nā kūlana e like me:
• ʻO ka maʻi Cushing
• ʻO ka puʻupuʻu Sertoli cell calcifying nui (kahi ʻano puʻupuʻu e ulu ana i loko o nā testicles)
• ʻO ka maʻi adrenocortical nodular pigmented mua ( nā ʻōpū o nā kelepa adrenal)
• ʻO Schwannomas(He ʻano puʻupuʻu e ulu ana ma nā aʻalolo)
• Nā puʻupuʻu thyroid ( nā puʻupuʻu i loko o ka ʻōpū thyroid)

ʻOiai paha he mea paʻakikī iki kēia, pili ia i ka ʻōnaehana hormonal. ʻO ia ke kumu e ʻōlelo ʻia ai e nānā pinepine ʻia kāu mau pae hormone.

I ka manawa hea e pono ai i kekahi me Carney Complex ke ʻike i ke kauka?

E hahai pono i nā ʻōlelo a kāu kauka. Mai hōʻole i nā hoʻokolohua i hoʻonohonoho ʻia a me nā hālāwai hoʻomau no kekahi kumu . Inā loaʻa iā ʻoe kekahi mau hōʻailona hou, e hoʻomaopopo koke i kāu kauka.

Hiki paha i kēia ke hoʻoulu i kahi pilikia?

ʻAe, i kekahi manawa hiki ke loaʻa nā pilikia. Hiki i nā puʻupuʻu, ʻoiai nā mea i hana ʻia i loko o ka puʻuwai, ke ālai i ke kahe koko. Hiki i kēia ke alakaʻi i nā kūlana koʻikoʻi e like me ka hahau ʻana , ka hāʻule ʻana o ka puʻuwai , a i ʻole ka hopu koke ʻana o ka puʻuwai . No laila, e ʻimi koke i ke kōkua lapaʻau inā loaʻa iā ʻoe kekahi o kēia mau hōʻailona:

• Nā loli i kou puʻuwai
• ʻUmi a ʻūhū paha
• Luhi pinepine
• Pōkole o ka hanu
• Ka pehu ʻana o ke kino - ʻoiai ma ka ʻōpū, nā kuʻekuʻe wāwae, a i ʻole nā ​​​​wāwae.

Leka Hoʻihoʻi Hope Loa

He maʻi laha ʻole ka Carney Complex e hiki ai ke hoʻololi i ka ʻili a me nā puʻupuʻu maikaʻi ʻole ma nā ʻāpana like ʻole o ke kino, ʻoiai ka puʻuwai a me ka ʻōnaehana endocrine. Inā pilikia kēia mau puʻupuʻu, hiki i nā kauka ke wehe iā lākou ma ke ʻoki ʻana.

ʻOiai he maʻi kēia no ke ola holoʻokoʻa, ma ka hahai ʻana i nā ʻōlelo aʻoaʻo lapaʻau kūpono a me ka loaʻa ʻana o nā nānā maʻamau, hiki iā ʻoe a i ʻole kāu keiki ke ola i kahi ola olakino. No laila, he mea nui e hoʻolohe i ka ʻōlelo a kāu kauka a hana e like me ia. Mai hopohopo, ʻaʻole ʻoe hoʻokahi, a aia nā kauka ma laila e kōkua iā ʻoe.

ʻO Carney Complex, nā kiko ʻili, ka hoʻololi ʻana o ka ʻili, nā puʻupuʻu kino, nā maʻi genetic, nā pilikia hormonal, maʻi puʻuwai, ka gene PRKAR1A