I-neurofibromatosis iyinhlangano yesifo se-genetic disorder eyenza ukuthi izicubu zikhule eduze kwemizwa. Kunezinhlobo ezintathu ze-neurofibromatosis: uhlobo 1 (NF1), uhlobo lwesi-2 (NF2) , kanye ne-schwannomatosis. Kulinganiselwa ukuthi abantu abangu-100 000 baseMelika banesimo se-neurofibromatosis. I-neurofibromatosis ivela kokubili abesilisa nabesifazane bazo zonke izizinda.
I-neurofibromatosis uhlobo 1 ingase izuzwe njengephethini ephezulu ye-autosomal noma ingase ibe ngenxa yokuguqula izakhi ezintsha kumuntu ngamunye.
Isakhi se-neurofibromatosis uhlobo 1 sitholakala ku-chromosome 17.
Izimpawu
I-neurofibromatosis uhlobo 1 yilona uhlobo oluvame kakhulu lwe-neurofibromatosis. Kwenzeka cishe ku-1 ku-4,000 ukuzalwa. Izimpawu ze-NF1 zihlanganisa:
- izindawo ezibomvu ezikhanyayo (izindawo ze-cafe-au-lait) esikhumbeni
- izicubu ezungeze izinzwa (ezibizwa nge-neurofibromas)
- ihamba emagqumeni noma ezindaweni ezigcwalayo
- ukukhula kwi-iris yeso (okuthiwa i-Lisch nodules noma i-iris hamartomas)
- izicubu emlenzeni we-optic we-iso (i-optic glioma)
- Ukuvinjelwa okungavamile kwesihlungulu (i-scoliosis)
- ukuhlukumeza kwamanye amathambo
Izingane eziningi ezine-NF1 zinemibono emikhulu kunezingqimba ezijwayelekile zekhanda futhi zifushane kunezilinganiso. Cishe amaphesenti angu-50 anenkinga yokukhuluma, ukukhubazeka kokufunda, ukuhlukunyezwa, noma ukuhlukumezeka. Abantu abane-NF1 bangase babe nezinhloko, ukukhubazeka kwenhliziyo, ukucindezeleka kwegazi, noma isifo segazi (vasculopathy).
Ukuxilongwa
Izimpawu ze-NF1 zivame ukuvela ngesikhathi sokuzalwa noma maduzane, futhi cishe njalo zikhona ezineminyaka eyi-10.
Ukuze izingane zibonwe nge-NF1, kumele zibonise okungenani izimpawu ezimbili ezingenhla. Ngaphandle kokuhlolwa ngokomzimba, odokotela bangasebenzisa izibani ezikhethekile ukuhlola isikhumba samabala e-cafe-au-lait. Ku-NF1, ayisithupha noma ngaphezulu kulawa mabala akhona, futhi alinganiselwa ku-5 mm ububanzi ezinganeni noma ngaphezu kuka-15 mm ububanzi kubantwana nabaseminyakeni yobudala.
I-imagery ye-resonance magnetic (MRI), i-X-ray, i-computed tomography (CT), kanti nezinye izivivinyo zingenziwa ukuze zibheke ama-neurofibromas namathambo angavamile. Ukuvivinya ngezifo ngokuhlolwa kwegazi kungenziwa ukuze kutholakale amaphutha egazini le-NF1.
Ukwelapha
Odokotela abazi ukuthi bangamisa kanjani izicubu ekukhuleni kwe-neurofibromatosis. Ukuhlinzwa kungasetshenziswa ukususa izicubu ezibangela ubuhlungu noma izinkinga ngombono noma ukuzwa. Imithi yokwelapha noma imisebe ingasetshenziselwa ukunciphisa ubukhulu besisu. Ku-NF1, ezinye izinkinga zamathambo, njenge-scoliosis, zingelashwa ngokuhlinzwa noma amabhande.
Ezinye izimpawu ezifana nobuhlungu, ikhanda, noma ukugwinya kungaphathwa ngemithi noma ezinye izifo.
Imithombo:
> "Iphepha Leqiniso le-Neurofibromatosis." Izinkinga. 13 Dec 2007. Isikhungo seNational of Neurological Disorders and Stroke.
> "Ukufunda Nge-Neurofibromatosis." Izinkinga ezikhethekile ze-Genetic. 27 uNhlolanja 2007. I-National Human Genome Research Institute.