He puʻupuʻu ko kāu pēpē i loko o kona puʻuwai? E aʻo kākou e pili ana i ka Cardiac Rhabdomyoma!

Ma ke ʻano he makuahine a makua paha, ke noʻonoʻo ʻoe i ke olakino o kāu keiki liʻiliʻi, ʻoiai ka mea liʻiliʻi loa e manaʻo nui ana, ʻeā? ʻOiai ke ʻōlelo mai ke kauka, "Aia kekahi mea e like me ka puʻupuʻu liʻiliʻi i loko o ka puʻuwai o kāu pēpē," hiki ke hoʻopūʻiwa i ka naʻau. Akā , mai hopohopo . I kēia lā, e kamaʻilio mākou e pili ana i kahi maʻi āu e lohe ai i nā manawa e like me kēia, akā ʻaʻole ia he mea weliweli. ʻO ia ka Cardiac Rhabdomyoma .

He aha ka Cardiac Rhabdomyoma?

I ka ʻōlelo maʻalahi, he puʻupuʻu maikaʻi ʻole ka cardiac rhabdomyoma, ʻaʻole ia he maʻi kanesa e ulu ana i loko o ka ʻiʻo puʻuwai o kāu pēpē. He mea kākaʻikahi loa kēia. Akā, ʻo ka mea kupanaha, ʻo ia ke ʻano maʻamau o ka puʻupuʻu puʻuwai e ulu ana i ka wā o ka fetal, ʻo ia hoʻi, ʻoiai ke pēpē i loko o ka ʻōpū o ka makuahine ('gestation'). ʻO ka hapa nui o ka manawa, ʻike ʻia kēia mau cardiac rhabdomyomas i ka wā e noho ana ke pēpē i loko o ka ʻōpū a i ʻole i loko o ka makahiki mua o ke ola.

Hoʻomaka kēia mau puʻupuʻu mai ka ʻiʻo puʻuwai ponoʻī. ʻO ka mea kūikawā, ʻaʻole lākou i ʻike wale ʻia, akā i loko o nā puʻupuʻu . ʻO kēia ka mea e hoʻokaʻawale iā lākou mai nā fibromas, kahi ʻano puʻupuʻu ʻino ʻole e ulu ana i loko o ka puʻuwai. No ka mea, hoʻomaka pū nā fibromas mai ka ʻiʻo puʻuwai ponoʻī, akā hoʻomaka lākou ma ke ʻano he puʻupuʻu hoʻokahi, ʻaʻole i loko o nā puʻupuʻu.

ʻO ka mea nui, ʻaʻole he maʻi ʻino a maʻi kanesa paha nā rhabdomyomas cardiac. ʻO ke ʻano kēia, ʻaʻole lākou e laha i nā ʻāpana ʻē aʻe o ke kino. ʻO ke ala wale nō e hiki ai iā lākou ke hoʻoweliweli, ʻo ia ke hoʻopilikia lākou i ka hana maʻamau o ka puʻuwai o kāu keiki. Akā, he mea kākaʻikahi loa ia. ʻO ka hapa nui o ka manawa, emi kēia mau puʻupuʻu a nalowale iā lākou iho a ʻaʻole hoʻi e hoʻopilikia nui.

Hiki i kēia mau puʻupuʻu ke ulu ma ka ʻaoʻao ʻākau a hema paha o ka puʻuwai o ke keiki. Loaʻa pinepine lākou ma nā keʻena haʻahaʻa o ka puʻuwai , ka ventricle ʻākau a i ʻole ka ventricle hema . I kekahi manawa hiki iā lākou ke ulu ma nā keʻena luna o ka puʻuwai, ka atria , a i ʻole ma ka paia e hoʻokaʻawale ana i nā keʻena ʻelua. Hiki ke ʻokoʻa ka nui o nā puʻupuʻu mai kekahi mau milimita a i kekahi mau kenimika. ʻIke ʻia lākou he melemele a keʻokeʻo paha i ka maka ʻōlohelohe.

ʻO ka rhabdomyoma o ka puʻuwai he ʻōpū maikaʻi ʻole, ʻaʻole ia he maʻi kanesa e hana ana i loko o nā hui i loko o ka ʻiʻo o ka puʻuwai.

ʻO wai ka mea i ʻoi aku ka paʻakikī ke hoʻomohala i kēia?

ʻO nā pēpē a me nā keiki me kahi maʻi genetic i kapa ʻia ʻo tuberous sclerosis e piʻi aʻe ka pilikia o ka loaʻa ʻana o nā rhabdomyomas cardiac. ʻO ka ʻoiaʻiʻo, ma kahi o 8 o 10 mau keiki me nā rhabdomyomas cardiac e loaʻa pū kekahi i ka tuberous sclerosis. He maʻi genetic kakaʻikahi loa nō hoʻi ka tuberous sclerosis. No ka laʻana, hoʻopilikia ia i kahi o 1 i loko o 6,000 mau pēpē hānau hou ma ʻAmelika Hui Pū ʻIa.

ʻAʻole i loaʻa i ka noiʻi kekahi hōʻike e pili ana ke kāne, ka lāhui, a i ʻole ka lāhui i ka hopena o kēia ʻano.

Pehea ka maʻamau o kēia ʻano?

ʻO nā rhabdomyomas cardiac ke ʻano maʻamau o ka puʻuwai puʻuwai i nā pēpē a me nā keiki liʻiliʻi. Eia nō naʻe, ma ke ʻano holoʻokoʻa, he kakaikahi loa nā puʻuwai puʻuwai a ua manaʻo ʻia he kakaikahi nā rhabdomyomas cardiac. ʻO nā puʻupuʻu e hoʻomaka ana i loko o ka puʻuwai ponoʻī (i kapa ʻia ʻo 'nā puʻupuʻu cardiac mua') e pili ana i ka liʻiliʻi ma mua o hoʻokahi i loko o 2,000 mau kānaka.

No ke aha e ulu ai ka rhabdomyoma o ka puʻuwai?

Ua manaʻo ʻia ua hoʻokumu ʻia nā rhabdomyomas cardiac e nā loli genetic e hana ʻia ma mua o ka hānau ʻana . ʻO kēia mau loli genetic ke alakaʻi nei i kahi maʻi i kapa ʻia ʻo tuberous sclerosis. Loaʻa i ka poʻe me ka tuberous sclerosis nā mutations i loko o nā genes `TSC1` a i ʻole `TSC2`. ʻO ka hana nui o kēia mau genes ʻelua ka kaohi ʻana i ka hoʻokumu ʻia ʻana o nā tumors i loko o ke kino. No laila, he nui nā keiki me ka cardiac rhabdomyomas i loaʻa pū kekahi i ka tuberous sclerosis.

Eia nō naʻe, hiki i kekahi mau keiki ke loaʻa i ka cardiac rhabdomyoma me ka ʻole o ka tuberous sclerosis. I ia mau hihia, ʻaʻole i loaʻa ke kumu kikoʻī o kēia puʻupuʻu .

He mea anei kēia mai ka hānau ʻana mai? He mea hoʻoilina anei?

ʻO ka maʻamau, he hānau ʻia ka cardiac rhabdomyoma. No laila, ua manaʻo ʻia he hānau ʻia. Eia naʻe, ʻaʻole like ia me ka hoʻoilina . Inā he hoʻoilina kahi maʻi, hiki ke hoʻoili ʻia ma o nā genes ʻohana.

Hiki i ka cardiac rhabdomyoma ke hoʻoilina, akā ʻaʻole ia he mea maʻamau. ʻO kēia no ka mea ʻo ke ʻano genetic i kapa ʻia ʻo tuberous sclerosis, ka mea e pili ana me kēia puʻupuʻu, e kū pinepine ana me ka ʻole o kahi pilina hoʻoilina.

He 50% ka manawa kūpono o ka makua me ka tuberous sclerosis e hoʻoili iā ia i kā lākou keiki. Eia nō naʻe, ʻike ʻia kēia "hoʻoilina" ma kahi o hoʻokahi hapakolu wale nō o nā maʻi tuberous sclerosis. I ka hapa nui o nā hihia ʻē aʻe, hana ʻia ka hoʻololi genetic no ka manawa mua i kahi keiki i ʻike hou ʻia, me ka ʻole o ka mōʻaukala ʻohana. ʻO ke ʻano kēia, hiki i ka cardiac rhabdomyoma ke ʻike ʻia i kekahi manawa e like me ka mea i manaʻo ʻia, a i kekahi manawa he hanana ulia pōpilikia me ka ʻole o nā hōʻailona hōʻike.

He mea paʻakikī paha kēia, akā e hoʻomanaʻo, he ʻāpana wale nō o ka moʻolelo nā genes. Inā he mau nīnau a hopohopo paha kāu e pili ana i ka cardiac rhabdomyoma a i ʻole ka tuberous sclerosis, e kamaʻilio me kāu kauka . E kūkākūkā i kou mōʻaukala ʻohana a pehea e pili ai iā ʻoe a i kāu keiki paha.

He aha nā hōʻailona o kēia?

ʻO ka hapa nui o ka manawa, ʻaʻole hōʻike ka rhabdomyoma cardiac i kekahi mau hōʻailona.Eia nō naʻe, he mea kākaʻikahi loa, inā lilo kahi puʻupuʻu a i ʻole kahi hui o nā puʻupuʻu i mea nui, hiki iā ia ke hana i nā pilikia i loko o ka puʻuwai o ka pēpē a hana i nā hōʻailona. No ka laʻana, hiki i nā puʻupuʻu nui ke ālai i ke kahe koko a hoʻopilikia paha i ke mele o ka puʻuwai. Inā hana kēia i ka wā hāpai, hiki ke lilo i mea ʻino loa i ka fetus. Hiki iā ia ke alakaʻi i ka hāʻule ʻana o ka puʻuwai a i ʻole kahi maʻi koʻikoʻi i kapa ʻia ʻo hydrops .

E nānā pinepine kāu kauka i kēia ʻano pilikia i ka wā hāpai me nā hoʻokolohua kiʻi.

Inā ʻaʻole e nalowale kēia mau puʻupuʻu i loko o nā pēpē a me nā keiki liʻiliʻi iā lākou iho a hoʻomau, a inā e ulu nui lākou, hiki iā lākou ke hana i ka hāʻule ʻana o ka puʻuwai a i ʻole nā ​​puʻuwai puʻuwai kūpono ʻole (arrhythmias). He mea kākaʻikahi loa kēia. Akā e nānā ke kauka o kāu keiki i kēia kūlana e ʻike inā kū mai kekahi mau pilikia.

Inā hōʻike kāu keiki i kekahi o kēia mau hōʻailona, ​​e kāhea koke aku i ka 1990, a i ʻole e lawe iā lākou i ka haukapila kokoke loa:

• Ka loli ʻana o ka puʻuwai.
• Ka wikiwiki o ka puʻuwai ( tachycardia ).
• Paʻakikī ka hanu ʻana a i ʻole ka pōkole o ka hanu, ʻoiai i ka wā e moe ana ( dyspnea ).
• ʻEha a ʻeha paha o ka umauma i hōʻoluʻolu ʻia e ka noho ʻana.
• Kuke.
• Ka poniuniu a i ʻole ka māʻule ʻana.
• Manaʻo luhi a nāwaliwali paha.
• Ka pehu ʻana ma nā wāwae, nā kuʻekuʻe wāwae, a i ʻole ka ʻōpū.

Pehea ʻoe e ʻike ai i kēia?

Hoʻomaopopo ʻia ka cardiac rhabdomyoma ma o nā hoʻokolohua kiʻi . Hiki ke hana ʻia kēia mau hoʻokolohua i ka wā hāpai a ma hope paha o ka hānau ʻana o ke pēpē.

Nā hoʻāʻo e ʻike ai i ka rhabdomyoma cardiac

ʻIke mua ʻia kēia puʻupuʻu i ka wā o ka ultrasound prenatal i ka wā hāpai. Hoʻomaka kēia puʻupuʻu e ʻike ʻia ma ka ultrasound ma waena o 20 a me 30 mau pule o ka hāpai ʻana. Hiki ke ʻike ʻia me kahi scan kūikawā i kapa ʻia he fetal echocardiogram . He ʻano ultrasound nō hoʻi kēia, akā nānā pono ia i nā pilikia me ka puʻuwai i ka wā e ulu ana ke keiki i loko o ka ʻōpū.

ʻO nā hoʻokolohua i hoʻohana ʻia e ʻike a loiloi i ka rhabdomyoma cardiac ma hope o ka hānau ʻana o kahi pēpē:

• ʻElectrocardiogram (EKG/ECG)
• ʻEchocardiogram (echo)
• Kiʻi Hoʻohui Magnetika (MRI)

Pono paha kāu keiki e hana i nā hoʻokolohua maʻamau, e like me ka EKG a i ʻole ka echo. E nānā ke kauka i nā cysts e ʻike inā e emi ana lākou ma o lākou iho . ʻO nā cysts āpau i hele ʻole ma o lākou iho , pono e mālama ʻia.

Hoʻopili pinepine ʻia ka rhabdomyoma cardiac no ka tuberous sclerosis.ʻO ia paha ka hōʻailona mua o ka maʻi. No laila, pono paha nā hoʻokolohua hou aʻe e ʻike ai inā loaʻa i ke keiki nā hōʻailona o ka tuberous sclerosis ma nā wahi ʻē aʻe o ke kino.

Inā ua ʻike ʻia kāu keiki me ka tuberous sclerosis, e kamaʻilio me kāu kauka e pili ana i ka hoʻāʻo genetic . I kekahi manawa loaʻa paha i nā mākua ke ʻano me ka liʻiliʻi loa a ʻaʻole loa e ʻike ʻia me ia. No laila, makemake paha kāu kauka e ʻike inā loaʻa iā ʻoe a i ʻole kāu hoa ka hoʻololi ʻana o ka gene e hoʻoulu ai i ka maʻi.

He aha nā lāʻau lapaʻau?

ʻO ka nūhou maikaʻi, ʻo ka rhabdomyomas cardiac pinepine e emi a nalowale iā lākou iho , no laila ʻaʻohe pono o ka lāʻau lapaʻau . I ka hapanui o nā hihia, ua hiki kēia mau puʻupuʻu i ko lākou nui loa i ka wā e hānau ai ke pēpē. Ma hope o kēlā, emi nā puʻupuʻu iā lākou iho , me ka ʻole o ka hoʻopilikia ʻana.

Eia nō naʻe, he mea kākaʻikahi loa kēia mau puʻupuʻu e hoʻopilikia i ka hana o ka puʻuwai a pono e mālama ʻia. I kekahi manawa hiki ke hana ʻia kēia i ka wā hāpai. I ia mau hihia, pono paha ka makuahine e lawe i ka lāʻau lapaʻau e hoʻēmi i ka puʻupuʻu.

I kekahi manawa hiki ke loaʻa nā pilikia ma hope o ka hānau ʻana o ka pēpē. Inā ʻaʻole e nalowale ka cyst a i ʻole ka hui cyst ma kāna iho , a inā e ulu nui aʻe, hiki iā ia ke hoʻopilikia i ka hana o ka puʻuwai o ka pēpē. Hiki i kēia ke hana i ka hāʻule ʻana o ka puʻuwai a i ʻole nā ​​puʻuwai puʻuwai kūpono ʻole (arrhythmia).

Inā pēlā, pono paha i kāu keiki nā lāʻau lapaʻau e like me kēia:

• Nā mea hoʻopaʻa i ka enzyme hoʻololi-Angiotensin (ACE)
• Diuretics (ʻo ia nā lāʻau lapaʻau e wehe i ke kahe nui mai ke kino)
• Lāʻau lapaʻau anti-arrhythmic

E kūkākūkā kāu kauka i nā koho lapaʻau me ʻoe a kōkua iā ʻoe e koho i ka hoʻolālā kūpono loa no kāu keiki. ʻAʻole pono pinepine ke ʻoki kino .

He aha ka manaʻolana no ka poʻe me kēia maʻi? (Manaʻo)

ʻAʻole pono ka hapa nui o ka poʻe me ka cardiac rhabdomyoma i ka lāʻau lapaʻau . Eia nō naʻe, inā loaʻa iā lākou nā kūlana ʻē aʻe, e like me ka tuberous sclerosis, hiki iā ia ke hoʻopilikia i ko lākou olakino i ka wā e hiki mai ana.

Inā loaʻa i kāu keiki ka tuberous sclerosis, pono ʻo ia i nā nānā lapaʻau maʻamau a me nā hoʻāʻo . No kekahi poʻe, he ʻoluʻolu loa ke ʻano, a ʻike ʻole ʻia paha. No kekahi poʻe, hiki iā ia ke hana i nā pilikia koʻikoʻi a hoʻopilikia nui i ke ʻano o ke ola. E kamaʻilio kāu kauka me ʻoe e pili ana i nā pono olakino kikoʻī o kāu keiki a me ka prognosis. I ka hui pū ʻana, hiki iā ʻoe ke hoʻomohala i ka hoʻolālā mālama maikaʻi loa no kāu keiki.

He aha kaʻu e nīnau aku ai i ke kauka?

E kamaʻilio me kāu kauka e pili ana i ke kūlana a me ka nānā ʻana o kāu pēpē. Inā ua ʻike ʻia ʻoe me ka cardiac rhabdomyoma i ka wā hāpai, ʻaʻole paha ʻoe e ʻike i kahi e hoʻomaka ai. E wehewehe paha kāu kauka i nā mea he nui ma mua o kou nīnau ʻana. Eia nō naʻe, hiki ke kōkua i ka nīnau ʻana i nā nīnau e like me kēia e loaʻa ai ka ʻike hou aku:

• Pehea e hiki ai iā mākou ke nānā i ka rhabdomyoma o kaʻu keiki?
• E pono anei i kaʻu keiki ka lāʻau lapaʻau a i ʻole ke ʻoki kino?
• Loaʻa i kaʻu keiki ka tuberous sclerosis?
• Pehea ka hopena o ka tuberous sclerosis i kaʻu keiki?
• Pono anei au e hana i kahi hoʻokolohua genetic no ka tuberous sclerosis?
• Hiki iā ʻoe ke hoʻohui iaʻu me kahi hui kākoʻo e kōkua ana i ka poʻe me ka tuberous sclerosis?

ʻOi aku ka weliweli o ka ʻike ʻana he maʻi ko kāu keiki ma mua o ka loaʻa ʻana iā ʻoe iho. Akā me ka ʻike kūpono a me nā kumuwaiwai, hiki iā ʻoe ke kōkua i kāu keiki e hoʻokele i ke kūlana a hoʻomaikaʻi . Inā loaʻa i kāu keiki ka cardiac rhabdomyoma, e kamaʻilio me kāu kauka e aʻo hou aku. Hiki i kāu kauka ke paipai i kahi hoʻolālā i kapa ʻia ʻo "watchful waiting," ʻo ia hoʻi ka nānā ʻana i nā puʻupuʻu a me ka ʻike ʻana inā e nalo wale lākou. I nā hihia he nui, ʻo kēia ʻano hana wale nō ka mea e pono ai. Eia nō naʻe, inā pono ka lāʻau lapaʻau, e hoʻomaopopo kāu kauka iā ʻoe.

Hōʻuluʻulu Manaʻo (Leka Lawe-Home)

E nā Māmā a me nā Pāpā, ʻOiai ke kani weliweli nei ka inoa ʻo Cardiac Rhabdomyoma, e hoʻomanaʻo he pinepine ia he puʻupuʻu maikaʻi ʻole, ʻaʻole maʻi kanesa . He mea maʻamau ia i nā pēpē, a nalo pinepine ia ma kāna iho me ka ʻole o ka lāʻau lapaʻau .

ʻO ka mea nui loa, ʻo ia ke noho mālie, e hahai i nā ʻōlelo aʻoaʻo lapaʻau, a kamaʻilio mau me kāu kauka e pili ana i ke kūlana o kāu keiki. E makaʻala i nā kūlana pili e like me ka tuberous sclerosis, a e hana i nā hoʻokolohua a me ka nānā ʻana e pono ai.

Ke makemake nei i kāu keiki e ola koke!

ʻO ka Rhabdomyoma Puʻuwai, Rhabdomyoma Puʻuwai, Nā Puʻupuʻu Puʻuwai, Maʻi Puʻuwai Pēpē, Tuberous Sclerosis, Tuberous Sclerosis, Maʻi Puʻuwai Fetal