Neurofibromatoses zvirwere zvemajini izvo zvinokonzeresa kukura kwemamota etsinga system. Kune maitiro maviri makuru: neurofibromatosis rudzi 1 uye neurofibromatosis rudzi 2. Ichi chirwere hachigone kurapwa. Zvinetso chete zvinorapwa.

tsananguro

Neurofibromatosis chimwe chezvirwere zvakajairika zvemajini. Autosomal inonyanya kugarwa nhaka, ivo vanofanotungamira mukukura kwemamota etsinga. 

Kune marudzi maviri makuru: neurofibromatosis type 1 (NF1) iyo inonziwo Von Recklinghausen's disease uye type 2 neurofibromatosis inonzi neurofibromatosis ine bilateral acoustic neuroma. Kuoma kwezvirwere zviviri izvi kunosiyana zvakanyanya. Izvi zvirwere zvinofambira mberi. 

Zvinokonzera 

Type 1 neurofibromatosis chirwere chemajini. Jeni rinotarisira, NF1, riri pachromosome 17, rinoshandura kugadzirwa kwe neurofibromin. Mukushaikwa kweprotein iyi, mapundu, anowanzo benign, anokura. 

Mu50% yezviitiko, geni rinobva kumubereki ane chirwere. Mune imwe hafu yezviitiko, mhando 1 neurofibromatosis inokonzerwa nekungoerekana genetic mutation. 

Type 2 neurofibromatosis chirwere chemajini. Imhaka yekushandurwa kwejene rekudzvanya bundu rinotakurwa nechromosome 22.

chirwere 

Kuongororwa kweneurofibromatosis ndeyekiriniki.

Kuongororwa kwerudzi rwekutanga neurofibromatosis kunoitwa kana zviviri zvezvinotevera zviratidzo zviripo: nzvimbo dzinosvika nhanhatu dzecafé-au-lait dzinopfuura 1 mm mudhayamita yadzo huru muvanhu vasati vakura, uye dzinopfuura 2 mm muvanhu vakakura. , dzinenge mbiri neurofibromas (benign non-cancerous tumors) yemhando ipi zvayo kana plexiform neurofibroma, axillary kana inguinal lentigines (freckles), optic glioma, maviri Lisch's nodules, hunhu hwemabhonzo sesphenoid dysplasia, kuonda kwecortex yemapfupa marefu. kana pasina pseudarthrosis, hama yekutanga-degree ine NF5 maererano nemaitiro ari pamusoro apa.

Kuongororwa kwerudzi rwechipiri neurofibromatosis kunoitwa pamberi pezvimiro zvakati: kuvapo kwebilateral vestibular schwannomas (mamota mutsinga inobatanidza nzeve neuropi) inoonekwa paMRI, mumwe wevabereki vanorwara neNF2 uye unilateral vestibular bundu kana maviri. yezvinotevera: neurofibroma; meningioma; glioma;

schwannoma (Schwann cell tumors yakakomberedza nerve; juvenile cataract.

Vanhu vane hanya 

Vanenge vanhu makumi maviri nevashanu muFrance vane neurofibromatosis. Type 25 neurofibromatosis inomiririra 000% yeneurofibromatosis uye inoenderana neakawanda kazhinji e autosomal hosha hosha ine chiitiko che 1/95 kusvika ku1 kuberekwa. Rudzi rushoma 3 neurofibromatosis inobata 000 mu3 vanhu. 

Zvinhu zvinotyisa 

Mumwe muvarwere vaviri ane njodzi yekutapurira rudzi rwekutanga kana rudzi rwechipiri neurofibromatosis kuvana vavo. Vanun'una vemunhu anorwara vane mukana mumwe chete pavaviri wekubatwawo kana mumwe wevabereki vaviri aine chirwere ichi.

Type 1 uye mhando 2 neurofibtomatosis haikonzeri zviratidzo zvakafanana. 

Zviratidzo zverudzi rwekutanga neurofibromatosis

Zviratidzo zveganda 

Zviratidzo zveganda ndizvo zvinowanzoitika: kuvapo kwecafé au lait spots, chiedza chemavara muvara, chakatenderedzwa kana kuti oval; lentigines (freckles) pasi pemaoko, mumucheka wegoro uye pamutsipa, kuwedzera kupararira kwepigmentation (ganda rakasviba); cutaneous tumors (cutaneous neurofibromas uye subcutaneous neurofibromas, plexiform -mixed cutaneous uye subcutaneous neurofibromas).

Neurological kuratidzwa

Havawanikwi muvarwere vose. Inogona kunge iri glioma yenzira dzemaziso, mapundu emuuropi anogona kunge asina zviratidzo kana kupa zviratidzo zvakadai, semuenzaniso, kudzikira kwekuona kwemaziso kana kubuda kwebhora reziso.

Zviratidzo zvemaziso 

Izvo zvakabatanidzwa nekubatanidzwa kweziso, maziso kana orbit. Aya anogona kunge ari maLisch's nodules, madiki ane pigmented tumors eiris, kana plexiform neurofibromas muziso reziso. 

Kuva nedehenya guru (macrocephaly) kwakajairika. 

Zvimwe zviratidzo zverudzi rwekutanga neurofibromatosis:

• Matambudziko ekudzidza uye kukanganisa kwekuziva 
• Kuratidzwa kwemapfupa, kashoma
• Visceral zviratidzo
• Endocrine zviratidzo 
• Vascular manifestations 

Zviratidzo zverudzi rwekutanga neurofibromatosis 

Zviratidzo zvekutaura kazhinji kurasikirwa kwekunzwa, tinnitus uye dzungu, nekuda kwekuvapo kweacoustic neuromas. Chinhu chikuru cheNF2 kuvepo kwebilateral vestibular Schwannomas. 

Kukuvadzwa kwemaziso kunowanzoitika. Chiratidzo cheziso chinowanzozivikanwa ndechekutanga kwecataract (juvenile cataract). 

Kuratidzwa kweganda kunowanzoitika: plaque tumor, schwannomas yeperipheral nerves.

Parizvino hapana kurapa kwakananga kweneurofibromatosis. Kurapa kunosanganisira kugadzirisa matambudziko. Kugara uchitariswa muhuduku nekukura kunogona kuona matambudziko aya.

Muenzaniso wekutarisira matambudziko erudzi rwekutanga neurofibromatosis: cutaneous neurofibromas inogona kubviswa nekuvhiyiwa kana nelaser, chemotherapy kurapwa inomiswa kurapa inofambira mberi gliomas yeoptic nzira.

Type 2 neurofibromatosis tumors inorapwa nekuvhiyiwa uye neradiation therapy. Dambudziko guru rekurapa kurapa kwebilateral vestibular schwannomas, uye manejimendi enjodzi yekusanzwa. Iyo brainstem implant ndiyo mhinduro yekugadziriswa kwekunzwa kwevarwere vakave vanzwa nechirwere.

Neurofibromatosis haigone kudziviswa. Iko hakunawo nzira yekudzivirira kuratidzwa kwechirwere muvanhu muvanhu vanotakura gene ye neurofibromatosis yerudzi rwe 1 uye rudzi rwe 2. Nguva dzose kutarisa kunogona kuona matambudziko ekuzvibata. 

Iyo pre-implantation diagnostics inoita kuti zvikwanise kudzorerazve embryos pasina genetic defect.