Maʻi maʻi maʻi tuberous

ʻO ka maʻi maʻi ʻo Tuberous sclerosis kahi maʻi maʻi e hoʻopili i ka ʻili, lolo / ʻōnaehana, nā puʻupaʻa, ka puʻuwai, a me nā akemāmā. Hiki i ke kūlana ke ulu i nā tumors i ka lolo. Loaʻa i kēia mau tumors kahi tuber a i ʻole ʻano aʻa.

ʻO tuberous sclerosis kahi kūlana hoʻoilina. Nā hoʻololi (hoʻololi) i kekahi o nā ʻaoʻao ʻelua, TSC1 a TSC2, kuleana no ka hapa nui o nā hihia.

Hoʻokahi wale nō mākua e pono e hoʻohele i ka hoʻololi no ke keiki e loaʻa i ka maʻi. Eia nō naʻe, pili ka hapakolu ʻelua o nā hihia i nā hoʻololi hou. I ka hapanui o nā hihia, ʻaʻohe moʻolelo o ka ʻohana o ka tuberous sclerosis.

ʻO kēia kūlana kekahi o nā hui o nā maʻi i kapa ʻia ʻo neurocutaneʻe syndrome. Pili pū ka ʻili a me ke kikowaena pūnaewele (lolo a me ka iwi kuamoʻo).

ʻAʻohe mea i ʻike ʻia e pili ana i ka makaʻu, ʻokoʻa ka loaʻa ʻana o ka makua me ka maʻi maʻi tuberous. I kēlā hihia, loaʻa i kēlā me kēia keiki ka 50% manawa o ka hoʻoili ʻana i ka maʻi.

ʻO nā ʻōuli o ka ʻili ka:

• ʻO nā wahi o ka ʻili keʻokeʻo (ma muli o ka hoʻoliʻiliʻi pigment) a he lau lehu a i ʻole confetti ke ʻano
• Nā pākuʻi ʻulaʻula ma ka maka me nā kīʻaha koko he nui (angiofibromas maka)
• ʻO nā pā i hoʻāla ʻia o ka ʻili me kahi ʻano ʻalani-peel (shagreen spot), pinepine ma ka hope

ʻO nā hōʻailona lolo me:

• Nā maʻi maʻi autism
• Hoʻolālā hoʻomohala
• Kīnā ʻole o ka noʻonoʻo
• Ka hopu ʻana i nā maʻi

ʻO nā ʻōuli ʻē aʻe e like me:

• Enamel niho pili.
• ʻO nā ulu ulu ma lalo a i ʻole nā ​​manamana lima a me nā manamana wāwae.
• ʻO nā tumors noncancerous Rubbery ma a i ʻole a puni ka alelo.
• Maʻi maʻi Lung i kapa ʻia ʻo LAM (lymphangioleiomyomatosis). ʻOi aku kēia ma nā wahine. I nā manawa he nui, ʻaʻohe ʻōuli. I nā kānaka ʻē aʻe, hiki i kēia ke alakaʻi i ka pōkole o ka hanu, ke kahe ʻana o ke koko, a me ka hāʻule ʻana o ka māmā.
  

Hoʻololi nā ʻōuli i kēlā me kēia kanaka. Loaʻa i kekahi poʻe ka ʻike maʻamau a ʻaʻohe hopu. Loaʻa i nā poʻe ʻē aʻe nā pilikia kīnā a i ʻole ka hopu ʻana i nā pilikia paʻakikī.

Pākuʻi ʻia paha nā ʻōuli:

• Rhythm puʻuwai maʻamau (arrhythmia)
• Waiho Calcium i ka lolo
• Nā "tubers" noncancerous i ka lolo
• ʻO ka ulu o ka Rubbery ma ke alelo a i ʻole nā ​​gum
• ʻO ka ulu e like me ka tumor (hamartoma) ma ka retina, nā pale pale i ka maka
• Nā tumors o ka lolo a me nā puʻupaʻa

E komo pū paha nā hoʻāʻo:

• CT scan o ke poʻo
• ʻO Chest CT
• Echocardiogram (ultrasound o ka puʻuwai)
• MRI o ke poʻo
• Ultrasound o ka hakuʻala
• Nānā māmā ʻo Ultraviolet i ka ʻili

Ke ho'āʻo nei ʻo DNA no nā ʻāpana ʻelua i hiki ke kumu i kēia maʻi.TSC1 a i ʻole TSC2) loaʻa.

ʻO nā loiloi ultrasound maʻamau o nā puʻupaʻa nui e ʻike pono ʻaʻohe ulu ulu.

ʻAʻohe lāʻau i ʻike ʻia no ka maʻi maʻi tuberous. Ma muli o ka ʻokoʻa o ka maʻi mai kekahi kanaka a i kekahi kanaka, hoʻokumu ʻia ka lapaʻau ʻana ma nā ʻōuli.

• Kaukaʻi ʻia i ke koʻikoʻi o ke kīnā o ka ʻike, pono i ke keiki ke aʻo kūikawā.
• Hoʻopili ʻia kekahi mau hopu ʻana me ka lāʻau (vigabatrin). Pono paha nā keiki ʻē aʻe i kahi ʻoki.
• Hiki ke hoʻoneʻe ʻia nā mea ulu liʻiliʻi ma ka maka (angiofibromas maka) e ka lapaʻau laser. E hoʻi hou kēia mau mea ulu, a e pono ai nā hana hou.
• Nalo pinepine nā Cardiac rhabdomyomas ma hope o ka ʻōpio. ʻAʻole pono ka ʻoki ʻana e wehe iā lākou.
• Hiki ke mālama ʻia nā puʻupuʻu lolo me nā lāʻau i kapa ʻia he mTOR inhibitors (sirolimus, everolimus).
• Mālama ʻia nā tumora hakuʻala me ke kahakaha, a i ʻole ka hōʻemi ʻana i ka lako o ke koko me ka hoʻohana ʻana i nā ʻenehana x-ray kūikawā. Ke aʻo ʻia nei nā mea kāwela mTOR ma ke ʻano he lāʻau lapaʻau ʻē aʻe no nā tumora tumora.

No ka ʻike hou a me nā kumuwaiwai, e kāhea aku i ka Tuberous Sclerosis Alliance ma www.tsalliance.org.

ʻO nā keiki me ka sclerosis tuberous māmā e hana maikaʻi pinepine. Eia nō naʻe, ʻo nā keiki me ke kīnā ʻole o ka naʻau koʻikoʻi a i ʻole ka hopu ʻana i ka hopu ʻole pinepine ʻia e kōkua mau i ke ola holoʻokoʻa.

I kekahi manawa ke hānau ʻia kahi keiki me ka maʻi puʻupuʻu nui, ʻike ʻia kekahi o nā mākua i kahi hihia akahai o ka maʻi maʻi tuberous i hōʻike ʻole ʻia.

ʻO nā tumors i kēia maʻi e ʻano noncancerous (benign). Eia nō naʻe, hiki i kekahi mau puʻupuʻu (e like me nā puʻupaʻa a me nā puʻuwai lolo) ke lilo i maʻi ʻaʻai.

Komo pū nā pilikia:

• ʻO nā tumors o ka lolo (astrocytoma)
• Nā puʻuwai puʻuwai (rhabdomyoma)
• Kīnā koʻikoʻi koʻikoʻi
• Ka hopu pono ʻole ʻia

Kāhea i kāu kahu mālama ola inā:

• ʻO kēlā me kēia ʻaoʻao o kou ʻohana he moʻolelo o ka maʻi maʻi tuberous
• ʻIke ʻoe i nā ʻōuli o ka maʻi maʻi tuberous i kāu keiki

Kāhea i kahi loea kūpuna inā ʻike ʻia kāu keiki me ka maʻi rhabdomyoma. ʻO ka maʻi maʻi tuberous ke kumu nui o kēia tumo.

Paipai ʻia ka ʻōlelo aʻo genetic no nā kāne a he moʻolelo ʻohana kā tuberous sclerosis a makemake e hānau keiki.

Loaʻa ka ʻike prenatal no nā ʻohana me kahi hoʻololi kuʻina i ʻike ʻia a i ʻole ka mōʻaukala o kēia ʻano. Eia nō naʻe, ʻike pinepine ʻia ka sclerosis tuberous ma ke ʻano he hoʻololi DNA hou. ʻAʻole hiki ke pale ʻia kēia mau hihia.

Maʻi ʻo Bourneville

• Tuberous sclerosis, angiofibromas - alo
• Tuberous sclerosis - hypopigmented macule

National Institute of Neurological Disorder a me ka pūnaewele Stroke. Pepa ʻoiaʻiʻo sclerosis tuberous. Paʻi NIH 07-1846. www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Tuberous-Sclerosis-Fact-Sheet. Hoʻohou ʻia Malaki Malaki 2020. Loaʻa iā Nowemapa 3, 2020.

Northrup H, Koenig MK, Pearson DA, et al. Pākuʻi sclerosis tuberous. Nā Manaʻo GeneReview. Seattle (WA): Kulanui o Wakinekona, Seattle; Iulai 13, 1999. Hoʻohou ʻia ʻApelila 16, 2020. PMID: 20301399 pubmed.ncbi.nlm.nih.gov/20301399/.

Sahin M, Ullrich N, Srivastava S, Pinto A. Neurocutaneous syndrome. I: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. ʻO Puka Textbook of Pediatrics ʻo Nelson. 21st ed. Piladelapia, PA: Elsevier; 2020: chap 614.

ʻO Tsao H, Luo S. Neurofibromatosis a me ka paʻakikī tuberous sclerosis. I: Bolognia JL, Schaffer JV, Cerroni L, et al, eds. Dermatology. ʻEhā ed. Piladelapia, PA: Elsevier; 2018: chap 61.