He aha ka Tuberous Sclerosis? Mai makaʻu, e kamaʻilio kākou e pili ana.

Ke hopohopo nei ʻoe no nā kiko keʻokeʻo o kāu keiki liʻiliʻi? A i ʻole ke hopohopo nei ʻoe no ka loaʻa pinepine ʻana o kāu keiki i nā ʻōʻō? ʻO ke kumu o kēia mau hōʻailona he maʻi laha ʻole paha. I kēia lā e kamaʻilio mākou e pili ana i kekahi maʻi laha ʻole akā hiki ke hoʻokele ʻia. ʻO ia ka tuberous sclerosis.

I ka ʻōlelo maʻalahi, he aha ka tuberous sclerosis?

ʻO ka Tuberous Sclerosis Complex (TSC) kahi maʻi genetic laha ʻole e hoʻoulu ai i nā puʻupuʻu ʻaʻole cancerous e ulu i nā ʻāpana like ʻole o ke kino, ʻoi aku hoʻi i nā ʻōpū e like me ka lolo, ka ʻili, nā puʻupaʻa, ka puʻuwai, a me nā māmā. He mea nui e hoʻomanaʻo ʻaʻole kēia he kanesa .

ʻOkoʻa loa ke ʻano o ka hopena o kēia maʻi i kēlā me kēia kanaka. He kakaikahi loa nā hōʻailona o kekahi poʻe a ola lākou i kahi ola maʻamau. Akā no kekahi poʻe, hiki ke ʻoi aku ka koʻikoʻi o kēia ʻano. No laila, hiki ke loaʻa nā pilikia koʻikoʻi.

Hoʻomohala mālie kēia maʻi i ka hala ʻana o ka manawa. ʻOiai e ʻike ʻia kekahi mau hōʻailona i ka wā ʻōpiopio o ke ola, hiki i kekahi ke hala i nā makahiki e ʻike ʻia ai. No laila, he mea nui loa i ke kanaka me kēia maʻi e noho ma lalo o ka nānā ʻana a ke kauka i ko lākou ola a pau.

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

He maʻi hānau ʻia kēia. ʻO ka hapa pinepine, ʻike ʻia kahi keiki me kēia maʻi i ka wā he 7 mahina paha. Eia nō naʻe, hiki ke hala nā makahiki no ka ʻike ʻia ʻana o ka maʻi i ka poʻe i loaʻa ʻole nā ​​​​hōʻailona. Hiki i kekahi ke loaʻa i kēia maʻi, me ka nānā ʻole i ke kāne, ka lāhui, a i ʻole ka hoʻomana. Ua manaʻo ʻia he hoʻokahi miliona mau kānaka ma ka honua holoʻokoʻa i loaʻa i kēia maʻi.

He aha nā hōʻailona o ka sclerosis tuberous?

Hoʻopili pinepine nā hōʻailona i ke kino kahi i loaʻa ai ka puʻupuʻu. E puʻunaue kākou i kēia mau hōʻailona i ʻekolu mau māhele nui.

1. Nā hōʻailona e pili ana i ka lolo

2. Nā hōʻailona pili i ka ʻili

3. Nā hōʻailona e pili ana i nā ʻāpana ʻē aʻe o ke kino

1. Nā hōʻailona e pili ana i ka lolo

ʻO nā puʻupuʻu maʻamau i kēia maʻi aia i loko o ka lolo. ʻOiai ʻaʻole kēia he maʻi kanesa, hiki iā lākou ke hoʻopilikia i ka hana o ka lolo.

• Nā ʻōhū: ʻO kēia ka hōʻailona maʻamau a weliweli hoʻi. Nui nā ʻano ʻōhū like ʻole e hiki ke hana.
• Nā puʻupuʻu lolo: Hiki ke loaʻa nā puʻupuʻu (Subependymal giant cell astrocytoma - SEGA) i loko o nā ventricles o ka lolo. Inā nui kēia mau mea, hiki ke hōʻiliʻili ka wai i loko o ka lolo, e hana ana i kahi maʻi i kapa ʻia ʻo hydrocephalus.
• Nā lohi o ka ulu ʻana a me nā kīnā noʻonoʻo: ʻAʻole i loaʻa i nā kānaka a pau kēia mau mea, akā ʻike kekahi mau keiki i nā pilikia aʻo a me nā lohi o ka ʻōlelo.
• Nā pilikia pili i ka hana:Hiki i nā kūlana e like me ka autism spectrum disorder a i ʻole ka attention deficit hyperactivity disorder (ADHD) ke hui pū me kēia maʻi.

2. Nā hōʻailona pili i ka ʻili

Hoʻomaopopo mua ʻia ka maʻi ma o nā hōʻailona ʻili. Ma kahi o 90% o ka poʻe me ka maʻi e ʻike i hoʻokahi a ʻoi aku paha o kēia mau hōʻailona:

3. Nā ʻano e pili ana i nā ʻāpana ʻē aʻe o ke kino

• Nā pilikia puʻupaʻa:Hiki ke hana ʻia nā pōhaku puʻupaʻa a i ʻole nā ​​cysts i loko o nā puʻupaʻa. Hiki i kēia ke hana i ka hāʻule ʻana o nā puʻupaʻa, ka ʻeha o ke kua a i ʻole ka pelvic, a me ke koko i loko o ka mimi. I kekahi manawa, hiki ke loaʻa ka hāʻule ʻana o nā puʻupaʻa a i ʻole ke kanesa puʻupaʻa (renal cell carcinoma).
• ʻO nā rhabdomyomas o ka puʻuwai: ʻIke pinepine ʻia kēia mau mea i nā keiki ʻōpio. Hoʻemi pinepine lākou i ka wā e ulu ana ke keiki. Eia nō naʻe, hiki i kekahi mau puʻupuʻu nui ke ālai i ke kahe koko i ka puʻuwai.
• Nā pilikia maka: ʻOiai hiki ke hana ʻia nā ʻōpū i loko o ka retina o ka maka, he mea kakaikahi loa nā pilikia ʻike.
• Nā loli i ka waha: E ʻike paha ʻoe i nā mea e like me nā puʻupuʻu liʻiliʻi ma nā ʻāʻī a i ʻole ka enamel e waiho ana ma nā niho.

He aha ke kumu o ka sclerosis tuberous?

I ka ʻōlelo maʻalahi, ua hana ʻia kēia e kahi loli (mutation) i loko o nā genes. Aia nā protein i loko o ko mākou kino e kāohi ana i ka ulu ʻana a me ka māhele ʻana o nā cell. I loko o kēia maʻi, aia kahi kīnā i loko o nā genes e kuhikuhi ana iā lākou e hana i kēia mau protein (i kapa ʻia ʻo TSC1 a i ʻole TSC2 genes). A laila ulu nā cell me ke kāohi ʻole ʻia a hana i nā puʻupuʻu.

ʻElua ala e hiki ai i kēia kīnā genetic ke hana:

1. Sporadic: ʻO ka hapa nui o ka manawa (ma kahi o ʻelua hapakolu), he hanana hou kēia kīnā genetic. ʻO ia hoʻi, ʻaʻole i loaʻa i ka makuahine a i ʻole ka makuakāne ka maʻi. Loaʻa kēia kīnā genetic ma ka hanana ma hope o ka hāpai ʻia ʻana o ke keiki.

2. Hoʻoilina: Ma kahi o hoʻokahi hapakolu o nā hihia, hoʻoilina ke keiki i ka maʻi mai kahi makua i loaʻa i ka maʻi.

Pehea e ʻike ai i ka maʻi?

Hoʻomaopopo ke kauka i kēia maʻi ma ka nānā ʻana i nā hōʻailona. Ua māhele ʻia kēia mau hōʻailona i ʻelua mau māhele: "nā hiʻohiʻona nui" a me "nā hiʻohiʻona liʻiliʻi."

I kekahi manawa, no ka mea e ulu ana nā hōʻailona i ka hala ʻana o ka manawa, hiki ke hoʻokaʻawale mua ʻia ka maʻi ma ke ʻano he "TSC hiki."

ʻO kekahi o nā hoʻokolohua i hoʻohana ʻia e ʻike i ka maʻi:

• No ka lolo: MRI a i ʻole CT scan o ka lolo, hoʻāʻo EEG e nānā i nā hopu ʻana.
• No ka ʻili: Ka hoʻokolokolo ʻana i ka ʻili, ʻoiai ke hoʻokolokolo ʻana o ke kukui ʻo Wood e ʻike maopopo i nā kiko keʻokeʻo.
• No nā puʻupaʻa: ʻO ke kiʻi ʻana o ka ultrasound o ka ʻōpū a i ʻole ka MRI.
• No ka puʻuwai: Echocardiogram.
• Ka hoʻāʻo ʻana i ka hoʻoilina: Hiki i kahi hāpana koko ke hōʻoia inā he kīnā i nā genes TSC1 a i ʻole TSC2.

Na kāu kauka e hoʻoholo i nā hoʻokolohua e pono ai ma muli o kāu mau hōʻailona.

He aha nā lāʻau lapaʻau no kēia?

ʻAʻole hiki ke ho'ōla loa ʻia ka tuberous sclerosis. Eia nō naʻe, aia nā lāʻau lapaʻau kūpono e kāohi a mālama i nā hōʻailona. Aia ka lāʻau lapaʻau i ke ʻano o nā hōʻailona.

• Nā lāʻau lapaʻau:
• No ke kāohi ʻana i nā hopu ʻana: Aia nā ʻano lāʻau lapaʻau like ʻole no nā hopu ʻana.
• No ka hoʻēmi ʻana i nā ʻōpū: Hiki i kahi papa o nā lāʻau i kapa ʻia ʻo mTOR inhibitors ke kāohi i ka ulu ʻana o nā ʻōpū i loko o ka lolo, nā puʻupaʻa, a me nā wahi ʻē aʻe a hoʻēmi iā lākou.
• ʻOki kino: I kekahi manawa, pono e wehe ʻia nā puʻupuʻu nui e hōʻino ana i nā ʻōkana. He mea nui loa ka wehe ʻana i nā puʻupuʻu e ālai ana i ke kahe o ka wai i loko o ka lolo.
• Nā lāʻau lapaʻau ʻili: Hilahila paha kekahi poʻe i ke ʻano o nā puʻupuʻu maka a me ka ʻili. Hiki i nā lāʻau lapaʻau e like me ka laser skin resurfacing a me ka dermabrasion ke hōʻemi i ko lākou helehelena.
• Nā lāʻau lapaʻau ʻē aʻe: He kōkua nui nā lāʻau lapaʻau e like me ka speech therapy a me ka occupational therapy no nā keiki me nā lohi o ka ulu ʻana.

He aha kāu e manaʻo ai i kou wā e ola nei me kēia maʻi?

Pono ka nui o ka poʻe me kēia maʻi e hana i nā scan e like me ka MRI ma ka liʻiliʻi i hoʻokahi manawa i kēlā me kēia 1-2 mau makahiki, ʻoi aku hoʻi i ka wā kamaliʻi, e nānā i ka ulu ʻana o nā puʻupuʻu.

ʻOkoʻa loa ka hopena o ka maʻi mai kēlā kanaka a kēia kanaka.

• Nā kānaka me nā ʻōuli iki: He iki loa nā ʻōuli. Pono paha lākou e lawe i kekahi lāʻau lapaʻau. Akā hiki iā lākou ke ola i kahi ola maʻamau me ka ʻole o nā hoʻopilikia nui i ko lākou ola.
• ʻO ka poʻe me ka hopena kaulike: ʻOiai ke kumu o kekahi hoʻopilikia ʻana i nā hōʻailona, ​​​​hiki ke mālama maikaʻi ʻia me ka mālama ʻana a me ka nānā mau ʻana o ke kauka.
• Hoʻopilikia nui ʻia: Loaʻa paha i kēia poʻe nā maʻi ʻūlū koʻikoʻi, nā kīnā noʻonoʻo, a pēlā aku. He mea paʻakikī paha iā lākou ke noho hoʻokahi a pono paha ke mālama ola mau.

Āhea wau e ʻike ai i ke kauka?

Inā loaʻa iā ʻoe a i ʻole kāu keiki ka TSC, he mea nui e ʻike i ke kauka i nā manawa maʻamau i kou ola a pau. Hiki i kēia ke kōkua i ka ʻike ʻana a me ka mālama ʻana i nā pilikia hou i ka wā mua.

Āhea ʻoe e hele ai i ka Emergency Treatment Unit (ETU)?

ʻO ka hopu ʻana ma mua o 5 mau minuke (kūpono) a i ʻole nā ​​hopu he nui i ka lālani (status epilepticus) he pilikia olakino ia. I ia mau hihia, pono e lawe koke ʻia ka mea maʻi i ka Emergency Treatment Unit (ETU) o ka haukapila.

Eia kekahi, inā loaʻa iā ʻoe nā hōʻailona a kāu kauka i haʻi aku ai iā ʻoe e makaʻala loa (e like me ke poʻo ʻeha nui, ka ʻeha puʻupaʻa), e ʻimi koke i ke kōkua lapaʻau.