Schwannomatosis

Schwannomatosis chirwere chinoita kuti pave nemahwendefa anokura zvishoma nezvishoma pane tishu dzenervhi. Mahwendefa aya anokura pane nerve dziri munzeve, uropi, musana nemaziso. Anogona kukurawo pane peripheral nerves, idzo dziri nerves dziri kunze kweuropi ne spinal cord. Schwannomatosis yakawanda. Kazhinji inoonekwa pakutanga kwehudiki.

Kune marudzi matatu e schwannomatosis. Mumwe nomumwe rudzi runokonzerwa ne gene yakachinja.

Mu NF2-related schwannomatosis (NF2), mahwendefa anokura munzeve mbiri uye anogona kukonzera kurasikirwa kunzwa. Gene yakachinja inokonzera rudzi urwu dzimwe nguva inopfuudzwa kubva kuvabereki. NF2-related schwannomatosis yaizivikanwa kare se neurofibromatosis 2 (NF2).

Marudzi maviri asara e schwannomatosis ndiwo SMARCB1-related schwannomatosis ne LZTR1-related schwannomatosis. Ma gene akachinja anokonzera marudzi aya kazhinji haapfuudzwe kuburikidza nemhuri.

Mahwendefa anokonzerwa ne schwannomatosis kazhinji haasi ekanser. Zviratidzo zvinogona kusanganisira kurwadziwa kwemusoro, kurasikirwa kunzwa, dambudziko nekuenzana uye kurwadziwa. Kurapa kunotarisa pakugadzirisa zviratidzo.

Zviratidzo zveSchwannomatosis zvinoenderana nerudzi. Zviratidzo zveSchwannomatosis inoenderana neNF2 (NF2) kazhinji zvinobva kune zvipembenene zvinokura zvishoma-zvishoma mumakumbo ese ari maviri, zvinozivikanwa se acoustic neuromas kana vestibular schwannomas. Zvipembenene izvi zvine utsinye, zvinoreva kuti hazvisi zvekenza. Zvipembenene izvi zvinokura pane tsinga inotakura ruzivo rweruzha uye kubalansira kubva mumhino yemukati kuenda kuuropi. Zvipembenene izvi zvinogona kukonzera kurasikirwa kwekunzwa. Zviratidzo zvinowanzooneka panguva yemakore ekupedzisira echidiki uye makore ekutanga ekukura, uye zvinogona kusiyana. Zviratidzo zvinogona kusanganisira: Kurasikirwa kwekunzwa kwenguva refu. Kuridza mumhino. Kusakwanisa kubalansira. Kurwadziwa kwemusoro. Dzimwe nguva NF2 inogona kutungamira kukukura kwezvipembenene pane mamwe matsinga, kusanganisira muuropi, musana uye maziso. Zvinogona kukurawo pane peripheral nerves, dziri kunze kweuropi nemucheka wemuzongoza. Vanhu vane NF2 vanogonawo kuve nezvimwe zvipembenene zvisina kenza. Zviratidzo zveizvi zvipembenene zvinogona kusanganisira: Kusanzwa uye kushaya simba mumaoko kana makumbo. Kurwadziwa. Kusakwanisa kubalansira. Kusangana kwechiso. Kushanduka kwekuona kana cataracts. Kuita seizure. Kurwadziwa kwemusoro. Aya marudzi maviri eSchwannomatosis anowanzoita vanhu mushure memakore makumi maviri. Zviratidzo zvinowanzooneka pakati pemakore makumi maviri nemakumi mashanu. SMARCB1- uye LZTR1-inoenderana neSchwannomatosis inogona kukonzera zvipembenene kukura pane matsinga muuropi, musana uye maziso. Zvipembenene zvinogona kukurawo pane peripheral nerves dziri kunze kweuropi nemucheka wemuzongoza. Zviratidzo zveSMARCB1- uye LZTR1-inoenderana neSchwannomatosis zvinosanganisira: Kurwadziwa kwenguva refu, kunogona kuitika chero kupi muviri uye kunogona kuremadza. Kusanzwa kana kushaya simba muzvikamu zvakasiyana-siyana zvemuviri. Kurasikirwa nemisumbu, kunozikanwa se atrophy. Aya marudzi eSchwannomatosis anogonawo kukonzera zvipembenene kukura mumhino. Asi zvinoitika zvishoma, uye zvipembenene zvinowanzo kukura mumhino imwe chete. Izvi zvakasiyana neNF2, iyo inokonzera zvipembenene kukura mumakumbo ese ari maviri. Nechikonzero ichi, vanhu vane SMARCB1- uye LZTR1-inoenderana neSchwannomatosis havafaniri kurasikirwa kwekunzwa kwakafanana nevanhu vane NF2. Ona nyanzvi yehutano kana uine zviratidzo zveSchwannomatosis. Kunyangwe pasina mushonga, matambudziko anogona kurapwa.

Ona nyanzvi yehutano kana uine zviratidzo zve schwannomatosis. Kunyangwe pasina mushonga, matambudziko anogona kurapwa.

'Schwannomatosis inokonzerwa nejeni yakachinja. Majeni chaiwo anoita basa anotsamira pane rudzi rwayo: Schwannomatosis ine chekuita ne-NF2 (NF2). Jeni reNF2 rinogadzira puroteni inonzi merlin, inonziwo schwannomin, inodzora zvirwere. Jeni yakachinja inokonzera kurasikirwa nemerlin, zvichikonzera kukura kwemaseli kusingadzoreki. Schwannomatosis ine chekuita ne-SMARCB1 ne-LZTR1. Kusvika pari zvino, majeni maviri anozivikanwa kuti anokonzera marudzi aya e-schwannomatosis. Kushanduka kwemajeni eSMARCB1 neLZTR1, anodzora zvirwere, zvakabatana nemamiriro ezvinhu aya.'

Mukudenda kwe autosomal dominant, jini rachinja ijeni ine simba. Iri pachimwe chezvinhu zvisiri zvepabonde, zvinonzi autosomes. Jini rimwe chete rachinja rinokwana kuti munhu atapurwe nemamiriro ezvinhu erudzi urwu. Munhu ane mamiriro e autosomal dominant — muenzaniso uyu, baba — ane mukana we50% wekuva nevana vanotapurwa vane jini rimwe rachinja uye mukana we50% wekuva nevana vasina kutapurwa.

Jini rinokonzera schwannomatosis dzimwe nguva rinopfuudzwa kubva kuna mubereki. Njodzi yekuwana jini inosiyana zvichienderana nerudzi rwe schwannomatosis.

Kune vanhu vangangoita hafu vane NF2-related schwannomatosis (NF2), vakagamuchira jini rachinja kubva kuna mubereki rakakonzera chirwere ichi. NF2 ine muenzaniso wekugara nhaka we autosomal dominant. Izvi zvinoreva kuti chero mwana wemubereki anotapurwa nechirwere ichi ane mukana we50% wekuva nechinja chejeni. Vanhu vane NF2 uye hama dzavo dzisingatapurirwe vanowanzova nechinja chitsva chejeni.

Mu SMARCB1- uye LZTR1-related schwannomatosis, chirwere ichi hachisi kungopfuudzwa kubva kuna mubereki. Vatsvakurudzi vanofungidzira kuti njodzi yekuwana SMARCB1- uye LZTR1-related schwannomatosis kubva kuna mubereki anotapurwa ingangoita 15%.

Zvinetso zvinogona kuitika mu schwanomatosis, uye zvinoenderana nerudzi rwunenge rwuri munhu wacho.

Zvinetso zve schwanomatosis ine chekuita ne NF2 (NF2) zvinosanganisira:

• Kurasikirwa kwekunzwa kwese kana chikamu.
• Kukuvadzwa kwetsinga yekumeso.
• Kushanduka kwekuona.
• Zvimwe zviduku zve ganda zvisina ngozi, zvinozivikanwa se schwannomas yeganda.
• Kushaya simba kana kunzwa kusanzwa mumitsipa kana maoko.
• Kuva nezvimwe zvakawanda zvehuropi zvisina ngozi kana zvirwere zvemu spine, zvinozivikanwa se meningiomas. Izvi zvinoda kuvhiya kazhinji.

Kurwadziwa kunokonzerwa nerudzi urwu rwe schwanomatosis kunogona kusimba. Vanhu vane rudzi urwu vangada kuvhiya kana kutarisirwa nachiremba wezvirwere zvinorwadza.

Kuongorora schwannomatosis, mushandi wehutano anotanga nekuongorora nhoroondo yako yemhuri nemhuri uye bvunzo yemuviri. Unogona zvakare kuda bvunzo dzakasiyana kuongorora schwannomatosis inoenderana ne-NF2 (NF2) kana schwannomatosis inoenderana ne-SMARCB1 ne-LZTR1.

Bvunzo dzakasiyana dzinosanganisira:

• Bvunzo yeziso. Bvunzo yeziso inogona kuratidza cataracts uye kurasikirwa kwekutarisa.
• Bvunzo dzekunzwa nekutsetsereka. Idzi dzinosanganisira bvunzo inoyeresa kunzwa inonzi audiometry uye bvunzo inoyeresa kutsetsereka nekurekodha kufamba kwemaziso, inozivikanwa se-electronystagmography. Bvunzo imwe inoyeresa meseji dzemagetsi dzinounza ruzha kubva munzeve yemukati kuenda kuuropi, inozivikanwa se-brain stem auditory evoked response.
• Bvunzo dzekuona mifananidzo. X-rays, CT scans kana MRIs dzinogona kubatsira kuziva kuchinja kwemapfupa, zvirwere mubongo kana musana, uye zvirwere zvidiki kwazvo. Bvunzo dzekuona mifananidzo dzinonyanya kushandiswawo kutarisira mamiriro acho mushure mekuongororwa.
• Bvunzo dzemajini. Bvunzo dzemajini hadzisi nguva dzose dzinogona kuziva NF2 kana schwannomatosis inoenderana ne-SMARCB1 ne-LZTR1 nekuti mamwe majini asingazivikanwe anogona kusanganiswa nehosha iyi. Zvisinei, vamwe vanhu vanosarudza bvunzo dzemajini vasati vava nevana.