Neurofibromatosis: yintoni, iintlobo, oonobangela kunye nonyango

Umxholo

• Ezona ntlobo ziphambili ze-neurofibromatosis
• Yintoni ebangela i-neurofibromatosis
• Unyango lwenziwa njani

I-Neurofibromatosis, ekwabizwa ngokuba sisifo sikaVon Recklinghausen, sisifo esivela kwilifa esizibonakalisa kwiminyaka eyi-15 kwaye sibangela ukukhula okungaqhelekanga kwethishu yovalo emzimbeni wonke, ukwenza amaqhuqhuva amancinci kunye namathumba angaphandle, abizwa ngokuba yi-neurofibromas.

Ngokubanzi, i-neurofibromatosis ilungile kwaye ayibonisi mngcipheko wempilo, nangona kunjalo, njengoko ibangela ukubonakala kwamathumba amancinci angaphandle, inokubangela ukonakala komzimba, nto leyo eyenza ukuba abantu abachaphazelekayo bazimisele ukwenza utyando ukuze basuswe.

Nangona i-neurofibromatosis ingenanyango, njengoko amathumba anokukhula umva, unyango ngotyando okanye unyango ngemitha lunokuzama ukuzama ukunciphisa ubungakanani bamathumba kunye nokuphucula ukubonakala kwesikhumba.

Ezona ntlobo ziphambili ze-neurofibromatosis

I-Neurofibromatosis inokwahlulwa ngokweendidi ezintathu:

• Uhlobo lwe-Neurofibromatosis 1: kubangelwe kukutshintsha kwe-chromosome 17 ecutha ukuveliswa kwe-neurofibromine, iprotein esetyenziswa ngumzimba ukuthintela ukubonakala kwamathumba. Olu hlobo lwe-neurofibromatosis lunokubangela nokulahleka kombono kunye nokungabi namandla;
• Uhlobo lwe-Neurofibromatosis 2: kubangelwe kukutshintsha kwe-chromosome 22, ukunciphisa imveliso ye-merlina, enye iprotein ethintela ukukhula kwamathumba kubantu abasempilweni. Olu hlobo lwe-neurofibromatosis lunokubangela ukulahleka kwendlebe;
• ISchwannomatosis: luhlobo lwesifo esinqabileyo apho ukukhula kwamathumba kukhakhayi, intambo yomqolo okanye imithambo yoluvo. Ngokubanzi, iimpawu zolu hlobo zivela phakathi kweminyaka engama-20 ukuya kwengama-25.

Kuxhomekeka kudidi lwe-neurofibromatosis, iimpawu zinokwahluka. Ke, jonga ezona mpawu ziqhelekileyo kuhlobo ngalunye lwe-neurofibromatosis.

Yintoni ebangela i-neurofibromatosis

I-Neurofibromatosis ibangelwa lutshintsho kwemfuza kwezinye iintlobo zemfuza, ngakumbi i-chromosome 17 kunye ne-chromosome 22. Ukongeza, iimeko ezinqabileyo zeSchwannomatosis zibonakala zibangelwa lutshintsho kwiijeni ezithile ezinje ngeSMARCB1 kunye neLZTR. Zonke iintlobo zofuzo eziguqulweyo zibalulekile ekuthinteleni ukuveliswa kwamathumba kwaye, ke ngoko, xa zichaphazelekile, zikhokelela ekubonakaleni kwezidumbu eziimpawu ze-neurofibromatosis.

Nangona uninzi lweziganeko ezifunyanisiweyo zigqithiselwa kubazali ziye ebantwaneni, kukwakho nabantu abanokungaze babenamatyala esi sifo kusapho.

Unyango lwenziwa njani

Unyango lwe-neurofibromatosis lunokwenziwa ngotyando lokususa amathumba abeka uxinzelelo kumalungu okanye ngonyango lwemitha ukunciphisa ubungakanani bawo. Nangona kunjalo, akukho lunyango luqinisekisa unyango okanye oluthintela ukuvela kwamathumba amatsha.

Kwiimeko ezinzima kakhulu, apho isigulana sihlaselwa ngumhlaza, kunokuba yimfuneko ukuba unyango lwe-chemotherapy okanye unyango lwe-radiation olujolise kwizilonda ezimbi. Fumana ezinye iinkcukacha zoNyango lwe-neurofibromatosis.