ʻO ka Bourneville tuberous sclerosis he maʻi maʻamau paʻakikī i hōʻike ʻia e ka ulu ʻana o kahi maʻi maʻi (non-cancerous) ma nā ʻāpana like ʻole o ke kino. Hiki ke loaʻa kēia mau maʻi koko i loko o ka ʻili, ka lolo, nā puʻupaʻa, a me nā ʻāpana a me nā ʻiʻo ʻē aʻe. Hiki i kēia pathology ke hana i nā pilikia koʻikoʻi i ka ulu ʻana o ke kanaka. Eia nō naʻe, ʻokoʻa nā hōʻike a me ka paʻakikī o ka maʻi mai kēlā me kēia maʻi.

ʻO nā ʻano ʻino o ka ʻili e pili pū ana me nā kiko ma ka ʻili a i ʻole nā ​​wahi i ʻoi aku ka māmā o ka ʻili ma mua o ke koena o ke kino. ʻO ka ulu ʻana o nā maʻi maʻi i ka maka i kapa ʻia ʻo angiofibroma.

I loko o ka pōʻaiapili o ka lolo, ʻo nā hōʻailona lapaʻau he epileptic seizures, nā pilikia pili (hyperactivity, aggressiveness, intellectual disabilities, learning problems, etc.). ʻO kekahi mau keiki me ka maʻi i loaʻa kekahi ʻano o ka autism, nā maʻi hoʻomohala, e pili ana i ka launa pū ʻana a me ke kamaʻilio. Hiki i nā ʻōpū lolo maikaʻi ke hana i nā pilikia e hiki ke make i ke kumuhana.

He mea maʻamau ka ulu ʻana o ka maʻi koko i loko o ka poʻe me ka tuberous sclerosis. Hiki i kēia ke hoʻopilikia nui i ka hana kīkī. Eia kekahi, hiki ke ulu ka maʻi koko i loko o ka puʻuwai, ka māmā a me ka retina. (2)

He maʻi maʻamau ia, ʻo ka nui o ia (ka helu o nā hihia i ka heluna kanaka i hāʻawi ʻia i ka manawa i hāʻawi ʻia) i ka 1 / 8 a 000 / 1 mau kānaka. (15)

ʻO nā hōʻike lapaʻau e pili ana me ka tuberous sclerosis o Bourneville ʻokoʻa e like me nā kino i hoʻopilikia ʻia. Eia kekahi, ʻokoʻa nā hōʻailona e pili ana i ka maʻi mai kekahi kanaka a i kekahi. Me nā hōʻailona mai ka maʻalahi a koʻikoʻi.

ʻO nā hōʻailona i ʻike nui ʻia o kēia maʻi, ʻo ia ka epileptic seizures, cognitive and behavioral disorders, ili abnormalities, etc. ʻO nā kino i hoʻopilikia pinepine ʻia ʻo ia: ka lolo, ka puʻuwai, nā puʻupaʻa, nā māmā a me ka ʻili.

Hiki ke hoʻomohala ʻia nā maʻi ʻino (cancerous) i kēia maʻi akā kakaikahi a pili nui i nā puʻupaʻa.

ʻO nā hōʻailona lapaʻau o ka maʻi i loko o ka lolo mai nā hoʻouka ʻana ma nā pae like ʻole:

- pōʻino i nā ʻōpū cortical;

- nā nodule ependymal (SEN);

- nā astrocytoma ependymal nunui.

ʻO ia ka hopena i: ka ulu ʻana o ka lolo noʻonoʻo, nā pilikia aʻo, nā maʻi ʻano, ka huhū, nā maʻi nānā, hyperactivity, obsessive-compulsive disorders, etc.

Hōʻike ʻia ka pōʻino o ka puʻuwai e ka ulu ʻana o nā cysts a i ʻole angiomyolipomas. Hiki i kēia mau mea ke alakaʻi i ka ʻeha kīkī a hiki i ka hōʻino ʻole ʻana. Inā ʻike ʻia ke koko kaumaha, no ka anemia koʻikoʻi a i ʻole ke koko kiʻekiʻe. Hiki ke ʻike ʻia kekahi mau hopena koʻikoʻi akā kakaʻikahi, ʻo ia hoʻi ka ulu ʻana o nā carcinomas (tumor o nā pūnaewele constituent o ka epithelium).

Hiki ke ʻano like ka poino o ka maka me nā kiko ʻike ʻia ma ka retina, e hoʻopilikia i ka ʻike a i ʻole ka makapō.

He nui nā mea ʻino o ka ʻili:

- hypomelanic macules: ka hopena i ka ʻike ʻia ʻana o nā kiko māmā ma ka ʻili, ma nā wahi āpau o ke kino, ma muli o ka hemahema o ka melanin, kahi protein e hāʻawi i ka kala i ka ʻili;

- ke ʻano o nā kiko ʻulaʻula ma ka maka;

- nā ʻāpana ʻulaʻula ma ka lae;

- nā maʻi ʻino ʻē aʻe o ka ʻili, hilinaʻi mai kekahi kanaka a i kekahi.

Loaʻa nā ʻeha ma ka 1/3 o nā mea maʻi me ka hapa nui o ka wahine. ʻO nā hōʻailona e pili ana, ʻoi aku ka liʻiliʻi o ka pilikia hanu.

ʻO ke kumu o ka maʻi he genetic a he hoʻoilina.

Hoʻokomo ʻia ka hoʻololi ʻana i nā genes TSC1 a me TSC2. Hoʻokomo kēia mau genes hoihoi i ka hoʻokumu ʻana i nā protein: hamartin a me ka tuberin. ʻO kēia mau protein ʻelua e hiki ai, ma o kahi pāʻani pāʻani, e hoʻoponopono i ka hoʻonui ʻana o ke kelepona.

Hānau ʻia ka poʻe maʻi me ka maʻi me ka liʻiliʻi o hoʻokahi kope mutated o kēia mau genes i loko o kēlā me kēia o kā lākou mau cell. Hoʻopau kēia mau hoʻololi i ka hoʻokumu ʻana o hamartine a i ʻole tubertine.

I ka pōʻaiapili kahi i hoʻololi ʻia ai nā kope ʻelua o ka gene, ua pale loa lākou i ka hana ʻana o kēia mau protein ʻelua. No laila ʻaʻole ʻae kēia hemahema i ke kino e hoʻoponopono i ka ulu ʻana o kekahi mau cell a, ma kēia ʻano, ke alakaʻi nei i ka hoʻomohala ʻana o nā cell tumor i nā ʻāpana like ʻole a me / a i ʻole nā ​​ʻāpana.

ʻO nā kumu pilikia no ka hoʻomohala ʻana i ia pathology he genetic.

ʻOiaʻiʻo, ʻoi aku ka maikaʻi o ka lawe ʻana i ka maʻi ma o ke ʻano autosomal dominant. A i ʻole, aia ka gene mutated o ka hoihoi ma kahi chromosome non-sexual. Eia kekahi, ʻo ka loaʻa ʻana o hoʻokahi wale nō o nā kope ʻelua o ka gene mutated ua lawa ia no ka ulu ʻana o ka maʻi.

Ma kēia ʻano, ʻo ka mea nona kekahi o kēia mau mākua ʻelua e loaʻa ana i ka maʻi he 50% ka pilikia o ka hoʻomohala ʻana i ka maʻi phenotype iā ia iho.

ʻO ka hōʻailona o ka maʻi ka mea mua o nā ʻokoʻa. Hoʻokumu ʻia ia ma luna o nā koina kino atypical. I ka hapanui o nā hihia, ʻo nā hōʻailona ʻano mua o ka maʻi: ʻo ka hele ʻana o ka epileptic seizures mau a me ka lohi i ka ulu ʻana o ke kumuhana. I nā hihia ʻē aʻe, ʻo kēia mau hōʻailona mua ka hopena i nā kiko ʻili a i ʻole ka ʻike ʻia ʻana o kahi maʻi puʻuwai.

Ma hope o kēia hōʻailona mua, pono nā hoʻokolohua hou i mea e hōʻoia ai i ka hōʻailona a i ʻole. Aia kēia mau mea:

- ka nānā ʻana i ka lolo;

– he MRI (Magnetic Resonance Imaging) o ka lolo;

- he ultrasound o ka puʻuwai, ate a me nā puʻupaʻa.

Hiki ke hoʻoikaika i ka ʻike ma ka hānau ʻana o ke keiki. A i ʻole, pono e hoʻokō koke ʻia i mea e hiki ai ke mālama i ka mea maʻi.

I kēia manawa, ʻaʻohe lāʻau lapaʻau no ka maʻi. No laila, kūʻokoʻa nā lāʻau i pili i nā hōʻailona i hōʻike ʻia e kēlā me kēia kanaka.

ʻO ka maʻamau, hāʻawi ʻia nā lāʻau anti-epileptic e kaupalena i ka hopu ʻana. Eia kekahi, ua kuhikuhi pū ʻia nā lāʻau lapaʻau no ka mālama ʻana i nā cell tumor o ka lolo a me nā puʻupaʻa. I loko o ka pōʻaiapili o nā pilikia pili, pono e mālama pono i ke keiki.

He lōʻihi ka mālama ʻana i ka maʻi. (1)