I-Neurofibromatoses yizifo zofuzo ezibeka phambili ukuthuthukiswa kwezimila zesistimu yezinzwa. Kunezinhlobo ezimbili ezinkulu: uhlobo lwe-neurofibromatosis 1 nohlobo lwe-neurofibromatosis 2. Lesi sifo asikwazi ukwelashwa. Kulashwa izinkinga kuphela.

Incazelo

I-Neurofibromatosis ingenye yezifo ezivame kakhulu zofuzo. I-Autosomal izuze kakhulu ifa, ibeka phambili ekukhuleni kwezicubu zesistimu yezinzwa. 

Kunezinhlobo ezimbili eziyinhloko: i-neurofibromatosis uhlobo 1 (NF1) ebizwa nangokuthi isifo sika-Von Recklinghausen kanye ne-neurofibromatosis yohlobo 2 ebizwa ngokuthi i-neurofibromatosis ene-bilateral acoustic neuroma. Ubukhulu balezi zifo ezimbili buhluka kakhulu. Lezi yizifo eziqhubekayo. 

Izimbangela 

Uhlobo loku-1 lwe-neurofibromatosis yisifo sofuzo. Isakhi sofuzo esinomthwalo wemfanelo, i-NF1, esiku-chromosome 17, sishintsha ukukhiqizwa kwe-neurofibromin. Uma engekho le phrotheni, izimila, ngokuvamile ezinobungozi, zikhula. 

Ezimweni ezingu-50%, isakhi sofuzo sivela kumzali ohlaselwe yilesi sifo. Kwesinye isigamu sezimo, uhlobo loku-1 lwe-neurofibromatosis lubangelwa ukuguqulwa kofuzo okuzenzakalelayo. 

Uhlobo 2 lwe-neurofibromatosis yisifo sofuzo. Kungenxa yokuguqulwa kofuzo lokucindezela isimila oluthwelwe i-chromosome 22.

kwesifo 

Ukuxilongwa kwe-neurofibromatosis kuwumtholampilo.

Ukuxilongwa kwe-neurofibromatosis yohlobo 1 kwenziwa lapho kukhona izimpawu ezi-2 zalezi ezilandelayo: okungenani izindawo eziyisithupha ze-café-au-lait ezingaphezu kuka-5 mm ubukhulu bazo kubantu abangaphambi kokuthomba, futhi ezingaphezu kuka-15 mm kubantu abathombile. , okungenani ama-neurofibromas amabili (izimila ezingezona umdlavuza) zanoma yiluphi uhlobo noma i-plexiform neurofibroma, i-axillary noma inguinal lentigines (freckles), i-optic glioma, amaqhuqhuva amabili e-Lisch, isilonda esivamile samathambo njenge-sphenoid dysplasia, ukuncipha kwe-cortex yamathambo amade. noma ngaphandle kwe-pseudarthrosis, isihlobo sezinga lokuqala esine-NF1 ngokwemibandela engenhla.

Ukuxilongwa kwe-neurofibromatosis yohlobo 2 kwenziwa ngaphansi kwezinqubo eziningana: ukuba khona kwe-vestibular schwannomas (izimila emithanjeni exhuma indlebe nobuchopho) ku-MRI, omunye wabazali abaphethwe yi-NF2 kanye nesimila se-vestibular esingahlangene noma ezimbili. kwalokhu okulandelayo: i-neurofibroma; meningioma; i-glioma;

i-schwannoma (izicubu ze-Schwann cell ezizungeze i-nerve; i-cataract yezingane.

Abantu abathintekayo 

Cishe abantu abangama-25 eFrance bane-neurofibromatosis. I-Type 000 neurofibromatosis imele u-1% we-neurofibromatosis futhi ihambisana nezifo ezivame kakhulu ze-autosomal ezinezigameko zokuzalwa kuka-95/1 kuya kwabangu-3. Uhlobo olungajwayelekile lwe-000 neurofibromatosis luthinta abantu abathathu kwabangama-3. 

Izici zengozi 

Isiguli esisodwa kwezimbili sinengozi yokudlulisela uhlobo 1 noma uhlobo 2 lwe-neurofibromatosis ezinganeni zazo. Izelamani zomuntu ogulayo zisengozini eyodwa kwezimbili yokuthi nazo zingathinteka uma omunye wabazali ababili enalesi sifo.

Thayipha 1 kanye nohlobo 2 neurofibtomatosis azibangeli izimpawu ezifanayo. 

Izimpawu zohlobo 1 lwe-neurofibromatosis

Izimpawu zesikhumba 

Izimpawu zesikhumba zivame kakhulu: ukuba khona kwe-café au lait spots, umbala onsundu ngokukhanyayo, oyindilinga noma oval; ama-lentigine (ama-freckles) ngaphansi kwezingalo, e-crease of the groin nasentanyeni, i-pigmentation ehlakazeka kakhulu (isikhumba esimnyama); izimila zesikhumba (i-cutaneous neurofibromas kanye ne-subcutaneous neurofibromas, i-plexiform-mixed cutaneous ne-subcutaneous neurofibromas).

Ukubonakaliswa kwemizwa

Azitholakali kuzo zonke iziguli. Kungase kube i-glioma yezindlela zamehlo, izimila zobuchopho ezingase zingabonakali noma zinikeze izimpawu ezifana, isibonelo, ukuncipha kokubona kahle noma ukuphuma kwenhlamvu yeso.

Izimpawu zamehlo 

Zixhunyaniswe nokubandakanyeka kweso, amajwabu amehlo noma i-orbit. Lawa kungase kube amaqhuqhuva ka-Lisch, izimila ezincane ezinemibala ye-iris, noma i-plexiform neurofibromas esokhethini leso. 

Ukuba nogebhezi olukhulu (macrocephaly) kujwayelekile. 

Ezinye izimpawu zohlobo 1 lwe-neurofibromatosis:

• Izinkinga zokufunda kanye nokukhubazeka kwengqondo 
• Ukubonakaliswa kwamathambo, akuvamile
• Ukubonakaliswa kwe-Visceral
• Izimpawu ze-endocrine 
• Ukubonakaliswa kwemithambo 

Izimpawu zohlobo 2 lwe-neurofibromatosis 

Izimpawu ezibonisayo ngokuvamile ukulahlekelwa ukuzwa, i-tinnitus nesiyezi, ngenxa yokuba khona kwe-acoustic neuromas. Isici esiyinhloko se-NF2 ubukhona be-vestibular Schwannomas yamazwe amabili. 

Ukulimala kwamehlo kuvamile. Ukungajwayelekile kwamehlo okuvame kakhulu ulwelwesi lwamehlo luqala ngokushesha (ulwelwesi lwengane). 

Ukubonakaliswa kwesikhumba kuvame: isimila se-plaque, i-schwannomas ye-peripheral nerves.

Okwamanje azikho izindlela zokwelapha eziqondile ze-neurofibromatosis. Ukwelashwa kuhlanganisa ukulawula izinkinga. Ukuqapha njalo ebuntwaneni nasebudaleni kungathola lezi zinkinga.

Isibonelo sokuphathwa kwezinkinga zohlobo loku-1 lwe-neurofibromatosis: i-cutaneous neurofibroma ingasuswa ngokuhlinzwa noma nge-laser, ukwelashwa ngamakhemikhali kumiswa ukuze kwelaphe ama-glioma aqhubekayo emigudwini yamehlo.

Uhlobo 2 lwe-neurofibromatosis tumors lwelashwa ngokuhlinzwa nokwelashwa ngemisebe. Isigxobo esikhulu sokwelapha ukwelashwa kwama-bilwan vestibular schwannomas, kanye nokuphathwa kwengozi yokungezwa. I-brainstem implant iyisixazululo sokuvuselela ukuzwa kweziguli eziye zangezwa ngenxa yalesi sifo.

I-Neurofibromatosis ayikwazi ukuvinjelwa. Ayikho futhi indlela yokuvimbela ukubonakaliswa kwesifo kubantu kubantu abaphethe isakhi sofuzo se-neurofibromatosis uhlobo 1 nohlobo 2. Ukuqapha okuvamile kungathola izinkinga zokuzilawula. 

Ukuxilongwa kwangaphambi kokumiliselwa kwenza kube nokwenzeka ukuphinde kufakelwe imibungu ngaphandle kokukhubazeka kofuzo.