ʻO nā neurofibromatoses nā maʻi genetic e predispose i ka hoʻomohala ʻana o nā ʻōpū o ka ʻōnaehana nerve. ʻElua mau ʻano nui: neurofibromatosis type 1 a me neurofibromatosis type 2. ʻAʻole hiki ke mālama ʻia kēia maʻi. Hoʻoponopono wale ʻia nā pilikia.

Definition

ʻO Neurofibromatosis kekahi o nā maʻi maʻamau maʻamau. Autosomal dominantly hoʻoilina, predispose lākou i ka hoʻomohala ʻana o nā ʻōpū o ka ʻōnaehana nerve. 

ʻElua mau ʻano nui: neurofibromatosis type 1 (NF1) i kapa ʻia ʻo ka maʻi ʻo Von Recklinghausen a me ke ʻano 2 neurofibromatosis i kapa ʻia he neurofibromatosis me ka neuroma acoustic bilateral. 'Oko'a ke 'ano o keia mau ma'i 'elua. He mau maʻi holomua kēia. 

Nā kumu 

ʻO ke ʻano 1 neurofibromatosis kahi maʻi genetic. ʻO ka gene kuleana, NF1, aia ma ka chromosome 17, hoʻololi i ka hana o neurofibromin. I ka loaʻa ʻole o kēia protein, ulu ka maʻi maʻi, ʻoi aku ka maikaʻi. 

Ma 50% o nā hihia, hele mai ka gene mai kahi makua i loaʻa i ka maʻi. I ka hapa ʻē aʻe o nā hihia, ʻo ka neurofibromatosis ʻano 1 ma muli o kahi hoʻololi genetic kūlohelohe. 

ʻO ke ʻano 2 neurofibromatosis kahi maʻi genetic. Ma muli o ka hoʻololi ʻana o kahi gene suppressor tumor i lawe ʻia e ka chromosome 22.

PalekanaEND_LINK 

ʻO ka hōʻailona o ka neurofibromatosis he lāʻau lapaʻau.

Hana ʻia ka hōʻailona o ka neurofibromatosis ʻano 1 ke loaʻa ʻelua o kēia mau hōʻailona: ma kahi o ʻeono mau wahi café-au-lait ʻoi aku ma mua o 2 mm i ko lākou anawaena nui loa i nā poʻe ma mua o ka wā ʻōpio, a ʻoi aku ma mua o 5 mm i nā poʻe pubescent. , ma ka liʻiliʻi ʻelua neurofibromas (benign non-cancerous tumors) o kēlā me kēia ʻano a i ʻole plexiform neurofibroma, axillary a i ʻole inguinal lentigines (freckles), optic glioma, ʻelua mau nodules o Lisch, ʻano ʻeha iwi e like me ka sphenoid dysplasia , thinning o ka cortex o nā iwi lōʻihi me a i ʻole me ka pseudarthrosis, kahi pili degere mua me NF15 e like me nā pae i luna.

Hana ʻia ka ʻike o ke ʻano 2 neurofibromatosis ma ke alo o kekahi mau pae hoʻohālikelike: ka hele ʻana o nā schwannomas vestibular bilateral (nā ʻōpū i loko o ke aʻalolo e hoʻopili ana i ka pepeiao i ka lolo) i ʻike ʻia ma MRI, kekahi o nā mākua i loaʻa i ka NF2 a me kahi ʻōpū vestibular unilateral a ʻelua paha. o kēia mau mea: neurofibroma; maningioma; glioma;

schwannoma (Schwann cell tumors e puni ana i ke aʻalolo; ʻōpio ʻōpiopio.

Pili ka poʻe 

Ma kahi kokoke i 25 poʻe ma Farani e loaʻa i ka neurofibromatosis. ʻO ke ʻano 000 neurofibromatosis e hōʻike ana i ka 1% o ka neurofibromatosis a pili i ka maʻi maʻamau o ka autosomal dominant me kahi maʻi o 95/1 a 3 hānau. ʻO ke ʻano maʻamau 000 neurofibromatosis e pili ana i 3 i 500 poʻe. 

Nā mea pilikino 

Hoʻokahi i loko o ʻelua mau maʻi ka pilikia o ka hoʻouna ʻana i ka neurofibromatosis type 1 a i ʻole type 2 i kā lākou mau keiki. Loaʻa i nā kaikunāne o kahi maʻi ka maʻi hoʻokahi o ʻelua inā loaʻa kekahi o nā mākua ʻelua i ka maʻi.

ʻAʻole hoʻohālikelike ka ʻano 1 a me ka ʻano 2 neurofibtomatosis i nā hōʻailona like. 

Nā hōʻailona o ke ʻano 1 neurofibromatosis

Nā hōʻailona ʻili 

ʻO nā hōʻailona o ka ʻili ka mea maʻamau: aia nā kiko café au lait, ʻulaʻula ʻulaʻula ma ka waihoʻoluʻu, poʻe a oval paha; nā lentigines (freckles) ma lalo o nā lima, ma ka ʻāʻī o ka ʻāʻī a ma ka ʻāʻī, ʻoi aku ka nui o ka pigmentation (ʻeleʻele ka ʻili); nā maʻi maʻi maʻi (nā neurofibromas maʻamau a me nā neurofibromas subcutaneous, plexiform -mixed cutaneous a me nā neurofibromas subcutaneous).

Nā hōʻike neurological

ʻAʻole lākou i loaʻa i nā maʻi a pau. He glioma paha ia o nā ala optic, lolo lolo i asymptomatic a hāʻawi i nā hōʻailona e like me, no ka laʻana, ka emi ʻana o ka ʻike acuity a i ʻole ka puka ʻana o ka maka.

Nā hōʻailona maka 

Hoʻopili ʻia lākou i ke komo ʻana o ka maka, ka lihilihi a i ʻole ka orbit. ʻO kēia paha nā nodule o Lisch, nā ʻōpū puaʻa liʻiliʻi o ka iris, a i ʻole plexiform neurofibromas i loko o ka poho maka. 

He mea maʻamau ka loaʻa ʻana o ka iwi poʻo nui (macrocephaly). 

ʻO nā hōʻailona ʻē aʻe o ke ʻano 1 neurofibromatosis:

• ʻO nā pilikia aʻo a me ka pilikia o ka naʻau 
• Hōʻike iwi, kakaʻikahi
• Nā hōʻike visceral
• Nā hōʻike endocrine 
• Nā hōʻike ʻana o ke koko 

Nā hōʻailona o ke ʻano 2 neurofibromatosis 

ʻO nā hōʻailona hōʻailona pinepine ka lohe ʻana i ka nalo, tinnitus a me ka dizziness, ma muli o ke ola ʻana o nā neuromas acoustic. ʻO ka hiʻohiʻona nui o ka NF2 ka hiki ʻana o bilateral vestibular Schwannomas. 

He mea maʻamau ka pōʻino o ka maka. ʻO ka maʻi maʻamau o ka maka, ʻo ia ka hoʻomaka ʻana o ka maʻi cataract (juvenile cataract). 

Hōʻike pinepine ʻia ka ʻili: plaque tumor, schwannomas o nā aʻalolo peripheral.

ʻAʻohe lāʻau lapaʻau kūikawā no ka neurofibromatosis i kēia manawa. Hoʻoponopono ʻia ka mālama ʻana i nā pilikia. Hiki i ka nānā mau ʻana i ka wā kamaliʻi a me ke kanaka makua ke ʻike i kēia mau pilikia.

Ka laʻana o ka mālama ʻana i nā pilikia o ka neurofibromatosis ʻano 1: hiki ke wehe ʻia nā neurofibromas ʻili ma ke ʻoki ʻoki ʻana a i ʻole ka laser, ua hoʻonohonoho ʻia ka lāʻau lapaʻau e mālama i nā gliomas holomua o nā ala optic.

Hoʻomaʻamaʻa ʻia nā maʻi maʻi neurofibromatosis type 2 me ka hōʻoki ʻana a me ka radiation therapy. ʻO ka lāʻau lapaʻau nui ka mālama ʻana i nā schwannomas vestibular bilateral, a me ka mālama ʻana i ka pilikia o ke kuli. ʻO ka implant brainstem he mea ia no ka hoʻoponopono hou ʻana i ka lohe o nā maʻi i kuli i ka maʻi.

ʻAʻole hiki ke pale ʻia ka neurofibromatosis. ʻAʻohe ala e pale aku ai i nā hōʻike o ka maʻi i nā poʻe i ka poʻe e lawe ana i ka gene no ka neurofibromatosis type 1 a me ke ʻano 2. Hiki i ka nānā mau ke ʻike i nā pilikia e mālama ai iā lākou. 

ʻO ka maʻi ma mua o ka hoʻokomo ʻana e hiki ai ke hoʻokomo hou i nā embryos me ka ʻole o ka genetic defect.