Schwannomatosis

ISchwannomatosis iyisimo esibangela ukukhula kwezinhlobo zezimpukane ezinzima emithanjeni yezinzwa. Lezi zimpukane zingakhula ezinzweni zezindlebe, ubuchopho, umgogodla, kanye namehlo. Zingakhula futhi ezinzweni ezingaphandle, ezingama-nerves asekugcineni komzimba, ngaphandle kobuchopho nomgogodla. I-Schwannomatosis iyindaba enqabile. Ngokuvamile ibonakala ekuqaleni kokukhula. Kunezinhlobo ezintathu ze-schwannomatosis. Uhlobo ngalunye lubangelwa yi-gene eguqukile. Ku-NF2-related schwannomatosis (NF2), izimpukane zikhula ezindlebeni zombili futhi zingabangela ukulahlekelwa ukuzwa. I-gene eguqukile ebangela lolu hlobo ngezinye izikhathi idluliselwa kubazali. I-NF2-related schwannomatosis yayaziwa ngaphambili ngokuthi yi-neurofibromatosis 2 (NF2). Ezinye izinhlobo ezimbili ze-schwannomatosis yi-SMARCB1-related schwannomatosis ne-LZTR1-related schwannomatosis. Ama-gene aguqukile abangela lolu hlobo ngokuvamile awadluliselwa emindenini. Izimpukane eziveliswa yi-schwannomatosis ngokuvamile azibona kansa. Izimpawu zingafaka izingcindezi, ukulahlekelwa ukuzwa, inkinga yokulinganisela nobuhlungu. Ukwelashwa kugxile ekuphatheni izimpawu.

Amakhambi e-Schwannomatosis ahluka kuye ngohlobo. Amakhambi e-schwannomatosis ehlobene ne-NF2 (NF2) avame ukubangelwa yiintumbu ezikhula kancane ezindlebeni zombili, ezibizwa ngokuthi yi-acoustic neuromas noma i-vestibular schwannomas. Lezi zintumbu zilungile, okusho ukuthi azinawo umdlavuza. Lezi zintumbu zikhula phezu komthambo othatha ulwazi lwesandi nokuqondana kusuka endlebeni yangaphakathi uya ebuchosheni. Lezi zintumbu zingabangela ukulahleka kokuzwa. Amakhambi avame ukuvela eminyakeni yobusha nokukhula, futhi angahluka. Amakhambi angafaka: Ukulahleka kokuzwa okuqhubekayo. Ukukhala ezindlebeni. Ukungalingani. Izinhlungu zikhanda. Ngezinye izikhathi i-NF2 ingabangela ukukhula kwezintumbu kwezinye izitho, kufaka phakathi ebuchosheni, emathanjeni nasemezweni. Zingakhula futhi emithanjeni yephethiphali, etholakala ngaphandle kobuchopho nomgogodla. Abantu abane-NF2 bangathuthukisa ezinye izintumbu ezilungile. Amakhambi alezi zintumbu angafaka: Ukungathuthuki nobuthakathaka ezingalweni noma emilenzeni. Ubuhlungu. Ukungalingani. Ukwehla kobuso. Ukushintsha kokubona noma i-cataracts. Ukuhlanza. Izinhlungu zikhanda. Lezi zinhlobo ezimbili ze-schwannomatosis ngokuvamile zithinta abantu ngemva kweminyaka engama-20. Amakhambi avame ukuvela phakathi kweminyaka engama-25 nama-30. I-SMARCB1- ne-LZTR1-ehlobene ne-schwannomatosis ingabangela ukukhula kwezintumbu emithanjeni ebuchosheni, emathanjeni nasemezweni. Izintumbu zingakhula futhi emithanjeni yephethiphali etholakala ngaphandle kobuchopho nomgogodla. Amakhambi e-SMARCB1- ne-LZTR1-ehlobene ne-schwannomatosis afaka: Ubuhlungu obuhlala isikhathi eside, obungaba khona kunoma iyiphi ingxenye yomzimba futhi obungalimaza. Ukungathuthuki noma ubuthakathaka ezingxenyeni ezahlukene zomzimba. Ukulahleka kwemisipha, okwaziwa ngokuthi yi-atrophy. Lezi zinhlobo ze-schwannomatosis zingabangela ukukhula kwezintumbu endlebeni. Kodwa kwenzeka kancane, futhi izintumbu ngokuvamile zikhula endlebeni eyodwa kuphela. Lokhu kuyahluka kwi-NF2, ebangela ukukhula kwezintumbu ezindlebeni zombili. Ngenxa yalesi sizathu, abantu abane-SMARCB1- ne-LZTR1-ehlobene ne-schwannomatosis abanalo ukulahleka kokuzwa okufanayo nabantu abane-NF2. Bheka ochwepheshe bezempilo uma unemikhambi ye-schwannomatosis. Nakuba kungekho ukwelashwa, izinhlanganisela zingaphathwa.

Bona uchwepheshe wezempilo uma unezimpawu ze-schwannomatosis. Nakuba kungekho ukwelashwa, izinhlupheko zingaphathwa.

I-Schwannomatosis ibangelwa yi-jini eliguquliwe. Ama-jini athile ahilelekile axhomeke kubuhlobo: I-Schwannomatosis ehlobene ne-NF2 (NF2). I-jini le-NF2 likhiqiza iprotheni ebizwa ngokuthi yi-merlin, ebizwa nangokuthi yi-schwannomin, ecindezela iziphumu. I-jini eliguquliwe liholela ekubeni kungabikho kwe-merlin, okubangela ukukhula kwamaselula okungalawuleki. I-Schwannomatosis ehlobene ne-SMARCB1 ne-LZTR1. Kuze kube manje, kukhona ama-jini amabili aziwa ukuthi abangela le mihlobo ye-schwannomatosis. Ukuguqulwa kwama-jini e-SMARCB1 ne-LZTR1, acindezelayo iziphumu, kuhambisana nalezi zimo.

Ekuguleni okubangelwa yi-autosomal dominant, i-gene eshintshile iyi-gene ebusayo. Itholakala kwenye yama-chromosome angeyona ama-sex, abizwa ngama-autosomes. I-gene eyodwa eshintshile kuphela edingekayo ukuze umuntu athinteke yilolu hlobo lwesimo. Umuntu onesimo se-autosomal dominant—kulesi sibonelo, ubaba—unesilinganiso sama-50% sokuthola ingane ethintekile ene-gene eyodwa eshintshile kanye nesilinganiso sama-50% sokuthola ingane engathintekile.

I-gene ebangela i-schwannomatosis ngezinye izikhathi idluliselwa kubazali. Ingozi yokudluliselwa kwe-gene ihluka kuye ngohlobo lwe-schwannomatosis.

Kubantu abangaba yingxenye yabo abane-schwannomatosis ehlobene ne-NF2 (NF2), bathole i-gene eshintshile evela kubazali ebangela leyo gciwane. I-NF2 inomfanekiso wokudluliselwa kwe-autosomal dominant. Lokhu kusho ukuthi noma iyiphi ingane yomzali othintekile yileyo gciwane inesilinganiso sama-50% sokuthola ushintsho lwe-gene. Abantu abane-NF2 futhi abangane babo abathintekile cishe banoshintsho olusha lwe-gene.

Ku-SMARCB1- ne-LZTR1-ehlobene ne-schwannomatosis, le gciwane kuncane amathuba okudluliselwa kubazali. Abacwaningi babikezela ukuthi ingozi yokudluliselwa kwe-SMARCB1- ne-LZTR1-ehlobene ne-schwannomatosis evela kumzali othintekile cishe ima-15%.

Izinkinga zingase zenzeke ku-schwannomatosis, futhi ziyahluka kuye ngohlobo olutholakala kumuntu.

Izinkinga ezihlobene ne-schwannomatosis ye-NF2 (NF2) zingafaka:

• Ukwehluleka kokuzwa okuphelele noma okungaphelele.
• Ukulimala komthambo wobuso.
• Ukushintsha kokubona.
• Izilonda ezincane ezilungile zesikhumba, ezibizwa ngokuthi yi-schwannomas yesikhumba.
• Ubuthakathaka noma ukungabi namqondo ezinyaweni noma ezingalweni.
• Ukuba nezinqwaba zezifo ezingalimi ezingqondweni noma emithanjeni, ezibizwa ngokuthi yi-meningiomas. Lezi zidinga ukuhlinzwa njalo.

Ubuhlungu obuphathwa yilolu hlobo lwe-schwannomatosis bungase bube buthakathaka. Abantu abanolwazi lolu hlobo bangadinga ukuhlinzwa noma ukunakekelwa ochwepheshe bokuqeda ubuhlungu.

Ukuthola i-schwannomatosis, ochwepheshe bezempilo baqala ngokubuyekeza umlando wakho wezokwelapha lomuntu siqu nowomndeni kanye nokuhlolwa komzimba. Ungase futhi udinga ezinye izivivinyo zokuxilonga i-schwannomatosis ehlobene ne-NF2 (NF2) noma i-schwannomatosis ehlobene ne-SMARCB1 ne-LZTR1.

Ezinye izivivinyo zihlanganisa:

• Ukuhlolwa kwamehlo. Ukuhlolwa kwamehlo kungaveza i-cataracts nokulahlekelwa ukubona.
• Ukuhlolwa kokuzwa nokujwayelekile. Lokhu kuhlanganisa ukuhlolwa okuqapha ukuzwa okuthiwa yi-audiometry kanye nokuhlolwa okuqapha ibhalansi ngokurekhoda ukunyakaza kwamehlo, okwaziwa ngokuthi yi-electronystagmography. Enye izivivinyo iqapha imiyalezo yamandla ethwala umsindo ukusuka endlebeni yangaphakathi uya ebuchosheni, okuthiwa yi-brain stem auditory evoked response.
• Izivivinyo ze-Imaging. I-X-rays, i-CT scans noma i-MRI zingasiza ekuboniseni izinguquko emathanjeni, iziphumu ebuchosheni noma e-spinal cord, kanye neziphumu ezincane kakhulu. Izivivinyo ze-imaging futhi zisetshenziswa ukuqapha isimo ngemuva kokuxilongwa.
• Izivivinyo ze-genetic. Izivivinyo ze-genetic ngeke zihlale zibonisa i-NF2 noma i-schwannomatosis ehlobene ne-SMARCB1 ne-LZTR1 ngoba ezinye i-genes ezingaziwa zingase zihileleke nesimo. Noma kunjalo, abanye abantu bakhetha ukuhlolwa kwe-genetic ngaphambi kokuba nezingane.