I-neurofibromatosis yintlupheko yesistim ye-genetic disorder eyenza ukuba izicubu zikhule zijikeleze. Kukho iintlobo ezintathu ze-neurofibromatosis: uhlobo lwe-1 (NF1), uhlobo lwesi-2 (i-NF2) , kunye ne-schwannomatosis. Kulinganiselwa ukuba ama-100,000 aseMelika anesimo se-neurofibromatosis. I-neurofibromatosis iyenzeka kwindoda kunye nabesifazane bazo zonke iintlanga.
Uhlobo lwe-Neurofibromatosis lu-1 lungafumana ilifa kwi- autosomal pattern okanye lube lube ngenxa yokuguquka komzimba omtsha kumntu.
Imfuza ye-neurofibromatosis hlobo 1 ifumaneka kwi-chromosome 17.
Iimpawu
Uhlobo lwe-neurofibromatosis uhlobo 1 luhlobo oluqhelekileyo lwe-neurofibromatosis. Kwenzeka ngo-1 kwi-4,000 yokuzalwa. Iimpawu zeNF1 ziquka:
- indawo ebomvu (ii-cafe-au-lait spots) ekhumbeni
- izicubu ezijikeleze iimbulunga (ezibizwa ngama-neurofibromas)
- iindawo ezinqabileyo okanye kwiindawo zokulima
- ukukhula kwi-iris yeso (elibizwa ngokuba yi-Lisch nodules okanye i-iris hamartomas)
- izicubu kwi-optic nerve yelihlo (optic glioma)
- Ukukhawuleka okungavamile kwesihlingo (scoliosis)
- ukuphulwa kwamanye amathambo
Abantwana abaninzi abane-NF1 banomlinganiselo ongaphezu kwesigqabantshintshi sentloko kwaye bafutshane kunomyinge. Phantse i-50% ineengxaki zokuthetha, ukukhubazeka kokufunda, ukuthintela, okanye ukunyanzelisa. Abantu abaneNF1 banokuba neentloko, iintsilelo zentliziyo, uxinzelelo lwegazi oluphezulu, okanye isifo se-vessels segazi (vasculopathy).
Ukuxilongwa
Iimpawu ze-NF1 zihlala zikhona xa zizalwa okanye kungekudala, kwaye phantse zihlala zingama-10 ubudala.
Ukuze abantwana bafumane i-NF1, kufuneka babonise ubuncinane ezimbini kwiimpawu ezingentla. Ukongezelela ekuhlolisweni komzimba, oogqirha bangasebenzisa izibane ezizodwa ukuhlolisisa ulusu kwiindawo ze-cafe-au-lait spots. Ku-NF1, ezintandathu okanye ngaphezulu kwezi ndawo zikhona, kwaye zilinganisa ngaphezu kwe-5 mm ububanzi kubantwana okanye ngaphezu kwe-15 mm ububanzi kwiintsholongwane kunye nabantu abadala.
Iimpawu ze-magnetic resonance (MRI), ii-X-rays, i-computed tomography (CT), kunye nezinye iimvavanyo zenziwa ukuba zikhangele i-neurofibromas kunye namathambo angavamile. Ukuhlolwa kwe-Genetic ngokuhlolwa kwegazi kunokwenziwa ukufumanisa iimpazamo kwi-gene NF1.
Unyango
Oogqirha abazi indlela yokumisa izicubu ekukhuleni kwi-neurofibromatosis. Ukuhlinzwa kungasetyenziselwa ukususa izicubu ezibangele intlungu okanye iingxaki ngombono okanye kwintetho. Amachiza okanye amayeza angasetyenziselwa ukunciphisa ubukhulu beentlungu. Kwi-NF1, ezinye izifo ezingasetyenziswanga, ezifana ne-scoliosis, zingaphathwa ngokuhlinzwa okanye i-braces.
Ezinye iimpawu ezinjengeentlungu, iintloko zekhanda, okanye ukutshatyalaliswa kungalawulwa ngamachiza okanye ezinye izibonelelo.
Imithombo:
> "I-neurofibromatosis Fact Sheet." Ngxaki. 13 Disemba 2007. I-National Institute of Neurological Disorders and Stroke.
> "Ukufunda Nge-Neurofibromatosis." Izifo eziphathekayo zezofuzo. 27 uNgo-2007. I-National Human Genome Research Institute.