Iimpawu ze-Neurofibromatosis

Umxholo

• Uhlobo lwe-Neurofibromatosis 1
• Uhlobo lwe-Neurofibromatosis 2
• ISchwannomatosis
• Indlela yokuqinisekisa ukuxilongwa
• Ngubani osemngciphekweni ophezulu we-neurofibromatosis

Nangona i-neurofibromatosis sisifo semfuza, esele sizelwe nomntu, iimpawu zinokuthatha iminyaka eliqela ukuzibonakalisa kwaye zingabonakali ngokufanayo kubo bonke abantu abachaphazelekayo.

Olona phawu luphambili lwe-neurofibromatosis kukubonakala kwamathumba athambileyo kulusu, njengalawo aboniswe kumfanekiso:

Nangona kunjalo, kuxhomekeke kudidi lwe-neurofibromatosis, ezinye iimpawu zinokuba:

Uhlobo lwe-Neurofibromatosis 1

Uhlobo lwe-1 ye-neurofibromatosis lubangelwa kukutshintsha kwemfuza kwi-chromosome 17, ebangela iimpawu ezinje:

• Amabala ekhofi anebisi eluswini, malunga ne-0.5 cm;
• Ama-Freckles kwingingqi ye-inguinal kunye ne-underarms eqatshelwe ukuya kwi-4 okanye i-5 iminyaka ubudala;
• Maqhuqhuva amancinci phantsi kolusu, avela ngexesha lokufikisa;
• Amathambo anobungakanani obukhulu kunye nokuxinana kwethambo;
• Amachaphaza amnyama amnyama kwi-iris yamehlo.

Olu hlobo ludla ngokuzibonakalisa kwiminyaka yokuqala yobomi, ngaphambi kweminyaka eyi-10, kwaye luhlala lungamandla aphakathi.

Uhlobo lwe-Neurofibromatosis 2

Nangona ingaqhelekanga kunohlobo lwe-neurofibromatosis 1, uhlobo 2 luvela kutshintsho lwemfuza kwi-chromosome 22. Iimpawu zinokuba:

• Ukuvela kwamaqhuma amancinci kulusu, ukusuka kwinqanaba lokufikisa;
• Ukunciphisa ngokuthe ngcembe kumbono okanye ukuva, ngokukhula kwamehlo kwangoko;
• Ukukhala rhoqo ezindlebeni;
• Ubunzima bokulinganisela;
• Iingxaki zomqolo, ezinje nge-scoliosis.

Ezi mpawu zihlala zibonakala ebusheni emva kwexesha okanye ebudaleni kwaye zinokwahluka ngamandla, kuxhomekeka kwindawo echaphazelekayo.

ISchwannomatosis

Olu luhlobo olunqabileyo lwe-neurofibromatosis enokubangela iimpawu ezinje:

• Ubuhlungu obungapheliyo kwilungu elithile lomzimba, olungaphuculiyo nangaluphi na unyango;
• Ukucutha okanye ubuthathaka kumalungu ahlukeneyo omzimba;
• Ukuphulukana nobunzima bemisipha ngaphandle kwesizathu.

Ezi mpawu zixhaphake kakhulu emva kweminyaka engama-20, ngakumbi phakathi kweminyaka engama-25 ukuya kwengama-30.

Indlela yokuqinisekisa ukuxilongwa

Ukuxilongwa kwenziwa ngokujonga amaqhuma eluswini, kunye ne-x-ray, tomography kunye novavanyo lwegazi, umzekelo. Esi sifo sinokubangela umahluko kumbala phakathi kwamehlo omguli, utshintsho olubizwa ngokuba yi heterochromia.

Ngubani osemngciphekweni ophezulu we-neurofibromatosis

Owona mngcipheko mkhulu wokuba ne-neurofibromatosis kukuba nezinye iimeko zesifo kusapho, kuba phantse isiqingatha sabantu abachaphazelekayo bafumana ilifa lotshintsho lwemfuzo komnye wabazali. Nangona kunjalo, utshintsho kwimfuza lunokuvela kwiintsapho ezingazange zibe naso esi sifo ngaphambili, zisenza kube nzima ukuqikelela ukuba esi sifo siza kuvela.