I-Genetic Nervous System Disorder
Uhlobo lwe-neurofibromatosis luhlobo lweentlobo ezintathu zeempawu zesifo se-genetic eziphazamisayo ezikhulayo. Ezi zintathu iintlobo ze-neurofibromatosis zihlobo 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.
I-neurofibromatosis inokufumana ilifa kwi- autosomal pattern okanye ihlawulwe ngenxa yokuguqulwa kwezinto ezintsha kumntu. Imfuza ye-neurofibromatosis hlobo 2 ikhona kwi-chromosome 22.
Iimpawu
I-neurofibromatosis hlobo 2 ayiqhelekanga kuneNF1. Ichaphazela malunga nabantu abayi-40,000. Iimpawu ziquka:
- izicubu kwiisisu ezijikeleze i-nerti cranial nererve (ebizwa ngokuba yi-vestibular schwannomas)
- ukulahlekelwa kwindlebe okanye ukuva, okanye ukukhalisa indlebe (i-tinnitus)
- izibilini emthonjeni womthambo
- i-meningioma (i-tumor kwi-membrane ehlanganisa umthambo womgudu kunye nengqondo) okanye ezinye izicubu zeengqondo
- i-cataracts emehlweni emehlweni ebuntwaneni
- iingxaki zokulinganisela
- ubuthathaka okanye ukuphelelwa yintonga engalo okanye umlenze
Ukuxilongwa
Iimpawu ze-neurofibromatosis hlobo 2 ziyabonakala ngokuphakathi kweminyaka eyi-18 ukuya kwe-22 ubudala. Isibonakaliso sokuqala esiqhelekileyo kukuva ukulahleka okanye ukukhala kwiindlebe (tinnitus). Ukuxilonga i-NF2, ugqirha ukhangele i-schwannomas kumacala omabini kwintsimbi yesibhozo yesibhozo, okanye imbali yentsapho ye-NF2 kunye ne-schwannoma enye kwi-nerve ye-eight cranial phambi kwe-30 ubudala.
Ukuba akukho schwannoma kwi-nerve ye-cranial yesibhozo, izicubu kwezinye iindawo zomzimba kunye / okanye i-cataracts emehlweni emehlweni ebuntwaneni kunokukunceda ukuqinisekisa ukuxilongwa.
Ekubeni ukulahlekelwa kwindlebe kunokufumaneka kwi-neurofibromatosis hlobo 2, uvavanyo lokuvavanya (audiometry) luya kwenziwa. Uvavanyo lweBrainstem oluphendulekayo lwempendulo (BAER) lunokukunceda ukuba unqume ukuba i-nerth cranial nerve isebenza ngokufanelekileyo.
I-IMRI), i-computed tomography (CT), kunye ne-X-rays isetyenziselwa ukujonga izibilini kunye neenxa zonke zeentsimbi. Uvavanyo lwe-Genetic ngokuhlolwa kwegazi lunokwenziwa ukujonga iziphene kwi-gene NF2.
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-NF2, ukuba utyando olwenziweyo ukususa i-vestibular schwannoma lubangele ukulahlekelwa kwindlebe, ukufakelwa kweengqondo zengqondo kungasetyenziselwa ukuphucula ukuva.
Ezinye iimpawu ezinjengeentlungu, iintloko zekhanda, okanye ukutshatyalaliswa kungalawulwa ngamachiza okanye ezinye izibonelelo.
Ukunyamezela kunye nenkxaso
Ukunyamekela umntu, ingakumbi umntwana, enesifo esingapheliyo njenge-neurofibromatosis inokuba ngumngeni.
Ukukunceda ukuhlangabezana nale nto:
- Fumana ugqirha oyintloko oyinyanisekileyo onokumthembayo kwaye ngubani ongayilungisa ukunakekelwa kwengane yakho kunye nezinye iingcali.
- Joyina iqela lokuxhasa abazali abanakekela abantwana abane-neurofibromatosis, ADHD, iimfuno ezizodwa okanye izifo ezingapheliyo ngokubanzi.
- Yamkela uncedo kwiimfuno zemihla ngemihla ezifana nokupheka, ukucoca, ukunyamekela abanye abantwana okanye ukukunika ukuphuka okufunekayo.
- Funa inkxaso yezemfundo kubantwana abanokukhubazeka ukufunda.
> Imithombo:
"Iphepha le-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.