I-Genetic Nervous System Disorder
I-neurofibromatosis hlobo 2 ingenye yezinhlobo ezintathu zezinkinga zesimiso se-genetic ezenza ukuba izicubu zikhule zizungeze izinzwa. Lezi zinhlobo ezintathu ze-neurofibromatosis zihlobo 1 (NF1) , uhlobo lwesi-2 (NF2), ne-schwannomatosis. Kulinganiselwa ukuthi abantu abangu-100 000 baseMelika banesimo se-neurofibromatosis. I-neurofibromatosis ivela kokubili abesilisa nabesifazane bazo zonke izizinda.
I-neurofibromatosis ingase izuzwe njengefa elihle kakhulu noma lingase libe ngenxa yokuguqula izakhi ezintsha kumuntu ngamunye. Isakhi se-neurofibromatosis hlobo 2 sitholakala ku-chromosome 22.
Izimpawu
I-neurofibromatosis hlobo 2 ayijwayelekile kuneNF1. Ithinta abantu abangu-1 ku-40,000. Izimpawu zihlanganisa:
- izicubu ezinxenyeni ezungeze inzwa ye-cranial yesishiyagalombili (okuthiwa i-vestibular schwannomas)
- ukulahlekelwa ukuzwa noma ukuzwa isithulu, noma ukukhala endlebe (tinnitus)
- izicubu emgodleni womgogodla
- i-meningioma (isisu esikhwameni esihlanganisa umthambo womgogodla nobuchopho) noma ezinye izicubu zobuchopho
- i-cataract emehlweni emehlweni ebuntwaneni
- izinkinga zokulinganisela
- ubuthakathaka noma ukuphazamiseka emandleni noma emlenzeni
Ukuxilongwa
Izimpawu ze-neurofibromatosis hlobo 2 zivame ukuphawula phakathi kweminyaka engu-18 no-22 ubudala. Uphawu oluvame ukuqala ukuzwa ukulahlekelwa noma ukukhala ezindlebeni (tinnitus). Ukuze uhlolisise i-NF2, udokotela ubheka ama-schwannomas ezinhlangothini zombili ze-nerve ye-cranial yesishiyagalombili, noma umlando womndeni we-NF2 kanye ne-schwannoma eyodwa emgqeni wesishiyagalombili we-cranial ngaphambi kweminyaka engu-30.
Uma kungekho schwannoma emndenini wesishiyagalolunye we-cranial, izicubu kwezinye izingxenye zomzimba kanye / noma izilonda emehlweni emehlweni ebuntwaneni zingasiza ukuqinisekisa ukuxilongwa.
Njengoba ukulahlekelwa ukuzwa kungaba khona ku-neurofibromatosis type 2, ukuhlolwa kokulalela (audiometry) kuzokwenziwa. Ukuhlolwa kwe-Brainstem okuphikisana nokuphendula (BAER) kungasiza ekunqumeni ukuthi i-nerth cranial nerve iyasebenza kahle yini.
I-imagery ye-resonance magnetic (MRI), ukuskena kwe-computed tomography (CT), futhi ama-X-ray asetshenziselwa ukubheka izicubu ngaphakathi nangaseduze kwezinzwa zokuhlola. Ukuvivinya nge-Genetic nge-test test yegazi kungenziwa ukubhekela amaphutha kulesisindo se-NF2.
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-NF2, uma ukuhlinzekwa okwenziwe ukususa i-vestibular schwannoma kubangela ukulahleka kokuzwa, ukufakelwa kwe-brainstem yokuhlola kungase kusetshenziselwe ukuthuthukisa ukuzwa.
Ezinye izimpawu ezifana nobuhlungu, ikhanda, noma ukugwinya kungaphathwa ngemithi noma ezinye izifo.
Ukubhekana nokusekela
Ukunakekela umuntu, ikakhulukazi ingane, ngesifo esingapheli njenge-neurofibromatosis kungaba yinselele.
Ukukusiza ukubhekana nalokhu:
- Thola udokotela wokunakekela oyinhloko ongayethemba futhi ngubani ongakwazi ukuqondisa ukunakekelwa kwengane yakho nabanye ochwepheshe.
- Joyina iqembu lokusekela kwabazali abanakekela izingane ezine-neurofibromatosis, i-ADHD, izidingo ezikhethekile noma izifo ezingapheli ngokuvamile.
- Yamukela usizo ngezidingo zansuku zonke ezifana nokupheka, ukuhlanza, ukunakekela ezinye izingane zakho noma ukumane ukunikeze ikhefu elidingekayo.
- Funa ukwesekwa kwezemfundo kubantwana abanokukhubazeka kokufunda.
> Imithombo:
"Iphepha le-Neurofibromatosis Fact Sheet." 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.