Izimpawu ze-Neurofibromatosis

-Delile

• Uhlobo lwe-Neurofibromatosis 1
• Uhlobo lwe-Neurofibromatosis 2
• I-Schwannomatosis
• Ungakuqinisekisa kanjani ukuxilongwa
• Ngubani osengozini enkulu ye-neurofibromatosis

Yize i-neurofibromatosis iyisifo sofuzo, esivele sizalwe nalo muntu, izimpawu zingathatha iminyaka eminingana ukuthi zivele futhi zingabonakali zifana kubo bonke abantu abathintekile.

Uphawu oluyinhloko lwe-neurofibromatosis ukuvela kwezimila ezithambile esikhumbeni, njengalezo eziboniswe esithombeni:

Kodwa-ke, ngokuya ngohlobo lwe-neurofibromatosis, ezinye izimpawu zingaba:

Uhlobo lwe-Neurofibromatosis 1

Uhlobo lwe-1 neurofibromatosis lubangelwa ukuguqulwa kofuzo ku-chromosome 17, okudala izimpawu ezinjenge:

• Amachashazi anekhofi anobisi esikhunjeni, cishe u-0.5 cm;
• Ama-Freckles esifundeni se-inguinal kanye ne-underarms abhalwe kuze kube yiminyaka eyi-4 noma engu-5;
• Amaqhubu amancane ngaphansi kwesikhumba, avela ngesikhathi sokuthomba;
• Amathambo anobukhulu obukhulu nehaba lamathambo;
• Amachashaza amnyama amancane enkingeni yamehlo.

Lolu hlobo luvame ukuzibonakalisa eminyakeni yokuqala yokuphila, ngaphambi kweminyaka yobudala eyi-10, futhi luvame ukuba namandla aphakathi nendawo.

Uhlobo lwe-Neurofibromatosis 2

Yize ingaphansi kakhulu kohlobo lwe-neurofibromatosis 1, uhlobo 2 luvela ekuguqulweni kofuzo ku-chromosome 22. Izimpawu zingaba:

• Ukuvela kwamaqhubu amancane esikhunjeni, kusukela ebusheni;
• Ukwehliswa kancane kancane kombono noma ukuzwa, ngokuthuthuka kokuqala kwamehlo;
• Ukukhala njalo ezindlebeni;
• Ukulinganisela ubunzima;
• Izinkinga zomgogodla, njenge-scoliosis.

Lezi zimpawu zivame ukuvela ebusheni sekwephuzile noma ebudaleni bokuqala futhi zingahluka ngamandla, kuya ngendawo ethintekile.

I-Schwannomatosis

Lolu uhlobo olungajwayelekile lwe-neurofibromatosis olungadala izimpawu ezifana nalezi:

• Ubuhlungu obungapheli engxenyeni ethile yomzimba, engathuthuki nganoma yikuphi ukwelashwa;
• Ukuncipha noma ubuthakathaka ezingxenyeni ezahlukahlukene zomzimba;
• Ukulahleka kwemisipha ngaphandle kwesizathu.

Lezi zimpawu zivame kakhulu ngemuva kweminyaka engama-20, ikakhulukazi phakathi kweminyaka engama-25 nengama-30.

Ungakuqinisekisa kanjani ukuxilongwa

Ukuxilongwa kwenziwa ngokubheka amaqhuqhuva esikhunjeni, nange-x-rays, tomography kanye nokuhlolwa kwegazi, ngokwesibonelo. Lesi sifo futhi singadala umehluko wombala phakathi kwamehlo amabili esiguli, ushintsho olubizwa nge-heterochromia.

Ngubani osengozini enkulu ye-neurofibromatosis

Ingcuphe enkulu yokuba ne-neurofibromatosis inezinye izimo zesifo emndenini, ngoba cishe uhhafu wabantu abathintekayo bathola ukuguqulwa kofuzo komunye wabazali. Kodwa-ke, ukuguquka kwezakhi zofuzo kungavela nasemindenini engakaze ibe nalesi sifo phambilini, okwenza kube nzima ukubikezela ukuthi ngabe lesi sifo sizovela yini.