Neurofibromatoses sune cututtuka na kwayoyin halitta waɗanda ke haifar da ci gaba da ciwace-ciwacen ƙwayar cuta. Akwai manyan nau'i biyu: nau'in neurofibromatosis na 1 da nau'in neurofibromatosis na 2. Ba za a iya magance wannan cuta ba. Rikice-rikice ne kawai ake magance su.

definition

Neurofibromatosis yana daya daga cikin cututtukan da aka fi sani da kwayoyin halitta. Autosomal rinjaye gada, sun ƙaddara don haɓakar ciwace-ciwacen ƙwayoyin cuta. 

Akwai manyan nau'i biyu: neurofibromatosis nau'in 1 (NF1) wanda kuma ake kira cutar Von Recklinghausen da kuma nau'in neurofibromatosis na 2 da ake kira neurofibromatosis tare da neuroma acoustic neuroma. Mummunan cututtuka guda biyu ya bambanta sosai. Waɗannan cututtuka ne masu ci gaba. 

Sanadin 

Nau'in 1 neurofibromatosis cuta ce ta kwayoyin halitta. Halin da ke da alhakin, NF1, wanda ke kan chromosome 17, ya canza samar da neurofibromin. Idan babu wannan furotin, ciwace-ciwacen daji, mafi yawan lokuta marasa kyau, suna tasowa. 

A cikin kashi 50% na lokuta, kwayar halitta ta fito ne daga iyayen da cutar ta shafa. A cikin sauran rabin lokuta, nau'in neurofibromatosis na 1 yana faruwa ne saboda maye gurbin kwayoyin halitta ba tare da bata lokaci ba. 

Nau'in 2 neurofibromatosis cuta ce ta kwayoyin halitta. Yana faruwa ne saboda canjin ƙwayar cuta mai hana ƙari wanda ke ɗauke da chromosome 22.

bincike 

Binciken neurofibromatosis shine na asibiti.

Ana yin ganewar asali na nau'in neurofibromatosis na nau'in 1 lokacin da 2 daga cikin alamun masu zuwa sun kasance: aƙalla wuraren café-au-lait guda shida na fiye da 5 mm a cikin mafi girman diamita a cikin mutanen da ba su balaga ba, kuma fiye da 15 mm a cikin mutane masu tasowa. , aƙalla neurofibromas guda biyu (cututtukan marasa ciwon daji) na kowane nau'in ko plexiform neurofibroma, axillary ko inguinal lentigines (freckles), glioma na gani, nodules na Lisch guda biyu, raunin halayen ƙashi irin su sphenoid dysplasia , thinning na bawo na dogon kasusuwa tare da ko ba tare da pseudarthrosis ba, dangi na farko-digiri tare da NF1 bisa ga ka'idodin da ke sama.

Ana yin ganewar asali na nau'in neurofibromatosis na nau'in 2 na neurofibromatosis a gaban wasu ma'auni: kasancewar schwannomas vestibular (ciwon daji a cikin jijiyar da ke haɗa kunne zuwa kwakwalwa) wanda aka gani akan MRI, daya daga cikin iyayen da ke fama da NF2 da ciwon daji na vestibular ko biyu. daga cikin wadannan: neurofibroma; meningioma; glioma;

schwannoma (Schwann cell ciwace-ciwacen daji da ke kewaye da jijiya; yara cataract.

Mutanen da abin ya shafa 

Kusan mutane 25 a Faransa suna da neurofibromatosis. Nau'in 000 neurofibromatosis yana wakiltar 1% na neurofibromatosis kuma ya dace da mafi yawan cututtukan cututtuka na autosomal tare da abin da ya faru na 95/1 zuwa 3 haihuwa. Karancin nau'in 000 neurofibromatosis yana shafar 3 cikin mutane 500. 

hadarin dalilai 

Ɗaya daga cikin marasa lafiya biyu yana da haɗarin watsa nau'in 1 ko nau'in 2 neurofibromatosis ga 'ya'yansu. 'Yan uwan ​​mara lafiya suna da daya cikin biyun hadarin kamuwa da cutar idan daya daga cikin iyayen biyu ya kamu da cutar.

Nau'in 1 da nau'in 2 neurofibtomatosis ba sa haifar da alamomi iri ɗaya. 

Alamun nau'in 1 neurofibromatosis

Alamun fata 

Alamun fata sune mafi yawan lokuta: kasancewar cafe au lait spots, launin ruwan kasa mai haske, mai zagaye ko m; lentigines (freckles) a ƙarƙashin makamai, a cikin kullun da kuma a wuyansa, mafi yaduwa pigmentation (fata mai duhu); ciwace-ciwacen ƙwayar cuta (neurofibromas na jiki da kuma neurofibromas na subcutaneous, plexiform-mixed cutaneous da kuma subcutaneous neurofibromas).

Bayyanar cututtuka

Ba a samun su a duk marasa lafiya. Yana iya zama glioma na hanyoyin gani, ciwace-ciwacen kwakwalwa wanda zai iya zama asymptomatic ko ba da alamu kamar, alal misali, raguwar hangen nesa ko fitowar ƙwallon ido.

Alamun ido 

Suna da alaƙa da shigar ido, fatar ido ko kewayawa. Waɗannan na iya zama nodules na Lisch, ƙananan ciwace-ciwacen ciwace-ciwacen iris, ko plexiform neurofibromas a cikin kwas ɗin ido. 

Samun babban kwanyar (macrocephaly) ya zama ruwan dare gama gari. 

Sauran alamun nau'in 1 neurofibromatosis:

• Matsalolin ilmantarwa da rashin fahimta 
• Bayyanar kashi, rare
• Bayyanar cututtuka na visceral
• Bayyanar cututtuka na endocrin 
• Bayyanar cututtuka na jijiyoyin jini 

Alamun nau'in 2 neurofibromatosis 

Alamun bayyanar cututtuka galibi sune hasarar ji, tinnitus da dizziness, saboda kasancewar neuromas mai sauti. Babban fasalin NF2 shine kasancewar Schwannomas vestibular biyu. 

Lalacewar ido ya zama ruwan dare. Mafi yawan ciwon ido shine ciwon ido na farko (cataract na yara). 

Bayyanar fata suna da yawa: ƙwayar ƙwayar cuta, schwannomas na jijiyoyi na gefe.

A halin yanzu babu takamaiman jiyya don neurofibromatosis. Jiyya ya ƙunshi sarrafa rikice-rikice. Saka idanu akai-akai a lokacin ƙuruciya da girma na iya gano waɗannan rikice-rikice.

Misalin sarrafa rikice-rikice na nau'in neurofibromatosis na nau'in 1: ana iya cire neurofibromas na fata ta hanyar tiyata ko ta hanyar laser, an saita maganin chemotherapy don magance gliomas masu ci gaba na hanyoyin gani.

Nau'in 2 neurofibromatosis ciwace-ciwacen daji ana bi da su tare da tiyata da kuma maganin radiation. Babban gungumen magani shine maganin schwannomas vestibular vestibular, da kula da haɗarin kurma. A brainstem implant shi ne mafita ga gyaran ji na marasa lafiya da suke yi, an kurumtar da cutar.

Ba za a iya hana Neurofibromatosis ba. Har ila yau, babu wata hanyar da za ta hana bayyanar cutar a cikin mutanen da ke dauke da kwayoyin halitta don nau'in neurofibromatosis na nau'in 1 da nau'in 2. Kulawa na yau da kullum zai iya gano matsalolin da za a iya sarrafa su. 

Binciken da aka yi kafin a dasa shi yana ba da damar sake dasa embryos ba tare da lahani na kwayoyin halitta ba.