Ngaba unamaqhuqhuva amancinci akhula kwiindawo ezithile zomzimba wakho? Okanye ulahlekelwa kancinci kukuva kwaye uzive unesizungu? Nangona sicinga ukuba ezi zizinto eziqhelekileyo, ngamanye amaxesha emva kwezi zinto kunokubakho imeko yemfuza esingazange sive ngayo kakhulu. Namhlanje siza kuthetha ngesinye sezifo ezinjalo. Esi sifo yiNeurofibromatosis Type 2, okanye igama elifutshane esilaziyo sonke yiNF2 . Nangona oku kunzima kancinci, masikuqonde ngokulula.
Kalula nje, yintoni i-NF2?
I-NF2 yimeko yemfuza echaphazela inkqubo yethu yemithambo-luvo. Ngenxa yotshintsho kwijini emzimbeni wethu, imizimba yethu ifumana isignali engalunganga yokuvelisa iiseli ezininzi kakhulu. Ezi seli zigqithisileyo ziyaqokelelana kwaye zenze iithumba.
Eyona nto ingcono kukuba uninzi lwala maqhuqhuva alunabungozi/alunamhlaza . Oku kuthetha ukuba awasasazeki kwamanye amalungu omzimba. Nangona kunjalo, kuxhomekeke ekubeni la maqhuqhuva akheka phi, sinokufumana iingxaki ezahlukeneyo.
Iindawo eziqhelekileyo apho la maqhuqhuva anokwakheka khona zezi:
- Imithambo-luvo emzimbeni wethu wonke (imithambo-luvo ejikeleze umzimba).
- I-membrane phakathi kwengqondo kunye ne-skull (i-meninges).
- Umqolo.
- Imithambo-luvo edibanisa ingqondo nendlebe yangaphakathi, inceda ekuveni nasekulinganiseni.
I-NF2 yimeko ekwiqela lezifo ezibizwa ngokuba yi-'neurofibromatosis.' Eli qela lezifo lichaphazela kakhulu ulusu lwethu kunye nenkqubo yemithambo-luvo.
Ixhaphake kangakanani le sifo?
Esi asisosifo sixhaphakileyo. Ngokwezibalo, i-NF2 ichaphazela malunga nomnye kubantwana abangama-33,000 abazelwe kwihlabathi liphela. Malunga ne-3% yabo bonke abaguli abafunyaniswe bene-neurofibromatosis zizigulana ze-NF2.
Zithini iimpawu ze-NF2?
Iimpawu ze-NF2 zinokwahluka kumntu nomntu. Zixhomekeke ekubeni la mathumba aphi emzimbeni wakho kwaye makhulu kangakanani. Kwabaninzi, iimpawu zokuqala zibangelwa ngamathumba kwimithambo-luvo elawula ukuva.
Iimpawu zokuqala ezidla ngokubonakala kukutshintsha kombono okanye ukuva. Ukuba ufumana into efana nale, qiniseka ukuba ubona ugqirha.
Le theyibhile ingezantsi inokukunceda uqonde ezi mpawu ngokucacileyo.
| Uhlobo lwempawu | Inkcazo |
|---|---|
| Iimpawu zokuqala ze-auditory nerve tumors | |
| Iingxaki zokulinganisela | Ukuziva unesizungu, ukungakwazi ukugcina ibhalansi xa uhamba. |
| Ubunzima bokuva | Ukulahlekelwa kancinci kancinci kokuva kwindlebe enye okanye zombini. |
| Ukuva isandi ezindlebeni (Tinnitus) | Ukuva isandi esikhalayo rhoqo ngaphakathi ezindlebeni, nokuba akukho sandi. |
| Iimpawu ezibangelwa ziithumba zeminye imithambo-luvo | |
| Intloko ebuhlungu | Iintloko ezibuhlungu rhoqo ezingathomalaliswayo zizithomalalisi zentlungu eziqhelekileyo. |
| Ubuthathaka okanye ukungakhululeki kwemisipha | Ukuba ndindisholo okanye ukuziva ungenabomi kwiindawo ezifana nezandla, iinyawo, okanye ubuso. |
| Ukukhubazeka kobuso | Ukungakwazi ukulawula icala elinye lobuso ngokufanelekileyo. |
| Utshintsho lolusu | Ukubonakala kwamaqhuqhuva okanye iiplaque kumphezulu wesikhumba. |
| Iingxaki zokubona | Umbono ofipheleyo, ii-cataracts. |
| Intlungu | Ukuziva uvutha ezandleni nasezinyaweni. |
| Ukuxhuzula | Ukwenzeka kweemeko ezifana nokufaneleka. |
Iimpawu zihlala ziqala ukubonakala phakathi kobuntwana kunye neminyaka engama-30 ubudala. Nangona kunjalo, esi sifo sinokuchaphazela abantu bayo nayiphi na iminyaka. Abantu abadala banamathuba amaninzi okuba neengxaki zokuva kuqala. Nangona kunjalo, abantwana banamathuba amaninzi okuba neethumba ebuchotsheni okanye emgogodleni. Ukuqala kweempawu ebuntwaneni kuthetha ukuba esi sifo sinokuba nzima ngakumbi.
Zeziphi iintlobo zamaqhuma ezikhula kwi-NF2?
Kukho iintlobo ezininzi eziphambili zamaqhuqhuva ezinokubonwa kwi-NF2. Makhe sizijonge ngokulula.
| Uhlobo lwethumba | Indawo yemvelaphi kunye nendalo |
|---|---|
| I-Schwannomas | Ezi zivela kwiiseli ezibizwa ngokuba ziiseli zeSchwann. Zifumaneka kakhulu kwimithambo-luvo yokuva, edibanisa ingqondo nendlebe (ekwabizwa ngokuba yi -vestibular schwannomas ). Zinokukhula nakwimithambo-luvo enceda kwizinto ezifana nokunyakaza kwamehlo, ukuhamba kolwimi, kunye nokuginya. |
| IiMeningiomas | Ezi luhlobo lwethumba oluvela engqondweni. Ngokukodwa, zenzeka kwiimembrane (meninges) phakathi kwengqondo kunye nentloko. |
| IiGliomas | Olu lukwaluhlobo lwethumba oluvela engqondweni. Ezi zenziwe ngeeseli ezibizwa ngokuba zii-glial cells. Zihlala zibonakala zijikeleze imithambo-luvo ye-optic. |
| Ii-Ependymomas | Olu luhlobo lwe-glioma. Lukhula engqondweni nasemgogodleni. Luvela kwiiseli ezivelisa ulwelo ngaphakathi kwengqondo (ulwelo lwe-cerebrospinal - CSF). |
Kutheni i-NF2 ikhula? Yintoni unobangela?
Isizathu esiphambili soku kukutshintsha kwezakhi zofuzo kwi-gene `NF2` emizimbeni yethu. Le gene inceda ekwenzeni iproteni ebizwa ngokuba yi-`merlin`. Umsebenzi ophambili wale proteni kukuyeka ukwakheka kweethumba (i-tumor-suppressor).
Ngoko ke, xa kukho utshintsho kwi-gene ye-`NF2`, iproteni ye-`merlin` ayiveliswa kakuhle. Emva koko ezinye iiseli emzimbeni wethu ziqala ukwahlukana nokwanda ngokungalawulekiyo. Le yindlela iiseli ezigqithisileyo eziqokelelana ngayo kwaye zenze iithumba.
Singayifumana le nguqu yemfuza ngeendlela ezimbini:
1. Ilifa: Ukuba omnye wabazali une-gene mutation, kukho ithuba elimalunga ne-50% lokuba umntwana ayifumane (i-`autosomal dominant` pattern).
2. Ngokungacwangciswanga: Ngamanye amaxesha, nokuba akukho mntu unesifo kusapho, utshintsho olutsha lwemfuza lunokwenzeka ngokungacwangciswanga ngexesha lokukhulelwa. Le yindlela uninzi lwezigulane ze-NF2 ezikhula ngayo esi sifo.
Ngubani osengozini? Ziziphi iingxaki ezinokubakho?
Ukuba umntu kusapho lwakho, ingakumbi abazali bakho, une-NF2, nawe usengozini yokuba nesi sifo.
Kukho iingxaki ezininzi ezinokwenzeka ngenxa ye-NF2.
- Ukulahlekelwa ngokupheleleyo kukungeva.
- Ukulahlekelwa ngokupheleleyo kombono.
- Umonakalo wemithambo-luvo.
- Ukwanda kolwelo engqondweni.
Kunqabile kakhulu, amanye amaqhuqhuva e-NF2 anokuba ngumhlaza, ngoko ke ukuhlolwa rhoqo kwezonyango kubaluleke kakhulu.
Indlela yokuxilonga esi sifo?
Ugqirha uza kukuxilonga aze enze uvavanyo olwahlukeneyo ukuqinisekisa ukuba unaso na esi sifo okanye awunaso. Okokuqala, baza kwenza uvavanyo lomzimba. Baza kujonga izinto ezifana notshintsho kulusu lwakho kunye nokulinganisela komzimba wakho. Emva koko baza kubuza ngeempawu zakho kunye nembali yezonyango yosapho lwakho.
Ukongeza, ezi mvavanyo zilandelayo zinokwenziwa:
- I-MRI scan: Oku kungabonisa ngokucacileyo ukuba kukho naziphi na iithumba kwinkqubo yakho yemithambo-luvo kunye nolusu.
- Uvavanyo lokuva: Jonga inqanaba lokuva kwakho.
- Uvavanyo lwamehlo: Jonga ukuba akukho ngxaki yamehlo okanye ezinye iingxaki zamehlo.
- Uvavanyo lwemfuza: Jonga utshintsho kwimfuza ye-`NF2`.
Ziziphi iindlela zonyango ze-NF2?
Enyanisweni, akukho nyango lwe-NF2 okwangoku. Nangona kunjalo, ukuxilongwa kunye nonyango lwesifo kuphucuke kakhulu. Olu nyango lunceda ukulawula iimpawu kwaye lukuncede uphile ubomi obuqhelekileyo kangangoko kunokwenzeka. Unyango luyahluka kumntu nomntu. Ugqirha wakho uya kugqiba ukuba loluphi unyango olukulungeleyo.
| Indlela yonyango | Yintoni eyenziwayo |
|---|---|
| Utyando | Kwenziwa utyando lokususa amaqhuma okanye ii-cataracts. |
| Unyango lweKhemotherapy okanye unyango lweMisebe | Olu nyango lusetyenziselwa ukunciphisa ubukhulu beethumba. Umzekelo, unyango ngemitha ye-stereotactic lunyango lwemitha. |
| Izixhobo zokuncedisa ukuva | Izixhobo ezifana nezixhobo zokuva, ii-cochlear implants, kunye nee-auditory brainstem implants zisetyenziselwa ukugcina nokuphucula ukuva. |
| Izixhobo zokunceda ukubona | Izixhobo ezifana neeglasi zibonelelwa abo bangaboni kakuhle. |
| Izinto zokuncedisa ukuhambahamba | Ukuba kukho ubunzima bokuhamba ngenxa yomonakalo wemithambo-luvo, kubonelelwa ngezixhobo zokuhamba. |
| Amayeza | Kunikwa amayeza ahlukeneyo ukulawula iimpawu ezifana neentlungu. |
Ngamanye amaxesha, ukuba amaqhuma akho awakubangeli ntlungu ingako, ugqirha wakho unokugqiba ekubeni awajonge ngaphandle kokuwanyanga. Nangona kunjalo, kubalulekile ukuba uhlolwe ngokwasemzimbeni, uhlolwe ngeeskeni, kwaye uvavanywe ukuva nokubona ubuncinane kanye ngonyaka ukuze kujongwe inkqubela phambili yesifo.
Iqela lezonyango elinyanga oku
Ngenxa yokuba i-NF2 sisifo esichaphazela iinkqubo ezininzi zomzimba, inyangwa liqela leengcali. Eli qela lidla ngokuquka:
- Iingcali ze-Neuro-oncologists: Oogqirha abaziingcali kumhlaza kunye neethumba zenkqubo yemithambo-luvo.
- Iingcali zotyando lwemithambo-luvo: Oogqirha abaziingcali kwinkqubo yemithambo-luvo.
- Oogqirha be-ENT: Oogqirha beendlebe, impumlo nomqala.
- Iingcali zokuva: Iingcali zokuva.
- Abacebisi ngezofuzo: Iingcali ezinika iingcebiso ngezifo zezofuzo.
Ngaba kukho naziphi na iziphumo ebezingalindelekanga zonyango?
Ewe, njengalo naluphi na unyango, olu nyango lunokuba nemiphumo emibi. Luyahluka ngokuxhomekeke kuhlobo lonyango.
Kukho iingozi ezithile ezibandakanyekayo kutyando lokususa iithumba. Ngenxa yokuba ezi thumba zikwiindawo ezibuthathaka kakhulu ezifana nobuchopho kunye nomqolo, kukho iingozi ezifana nokopha, usulelo, kunye nomonakalo wemithambo-luvo. Kodwa iqela lakho lotyando liza kwenza konke okusemandleni alo ukunciphisa ezi ngozi.
Kwi-chemotherapy kunye nonyango lwe-radiation,
- Ukuqhinwa
- Urhudo
- Ukudinwa
- Ukulahleka kweenwele
- Umnqweno wokutya
- Isicaphucaphu nokuhlanza
Iziphumo ebezingalindelekanga ezifana nezi: Ngaphambi kokuba uqale unyango, thetha nogqirha wakho malunga neziphumo ebezingalindelekanga ezinokubakho.
Ungathini ngobomi obuhlala ixesha elide kunye nesi sifo?
Indlela i-NF2 echaphazela ngayo ubomi bomntu ixhomekeke kwizinto ezininzi. Ubungakanani bezilonda, indawo ezikuyo, kunye nobudala esi sifo siqala ukufunyaniswa ngabo zezinye zezona zinto zibalulekileyo. Ngamanye amaxesha izilonda zisenokungabangeli zimpawu. Ngamanye amaxesha, iimpawu zinokuba nzima kakhulu.
Eyona nto ingcono kukufumanisa isifo kwangethuba uze uqale unyango ngaphambi kokuba kubekho iingxaki . Emva koko imeko iba ngcono kakhulu. Ngokuxhomekeke kwindlela iimpawu zakho ezikuchaphazela ngayo, ugqirha wakho uya kukwazi ukukunika uqikelelo oluchanekileyo.
Ngaba i-NF2 ingathintelwa?
Hayi. Ekubeni i-NF2 yimeko yemfuza, ayinakuthintelwa. Nangona kunjalo, ukuba kukho imbali yentsapho yale meko kwaye uceba ukuqala usapho, iingcebiso ngemfuza ziyacetyiswa ngaphambi kokuba nomntwana.Kubaluleke kakhulu ukubhekisa koku kulandelayo: Ukuze ukwazi ukuqonda ngcono umngcipheko wokuba umntwana wakho afumane esi sifo.
Umyalezo Wokuya Ekhaya
- I-NF2 yimeko yemfuza ebangela iithumba kwinkqubo yemithambo-luvo. Uninzi lwezi thumba azinawo umhlaza.
- Iimpawu ezinje ngokulahlekelwa kukuva, iingxaki zokulinganisela, utshintsho lombono, amaqhuqhuva eluswini, kunye nentloko ebuhlungu ziqhelekile.
- Nangona esi sifo singenakunyangwa ngokupheleleyo, kukho unyango oluninzi olusebenzayo olunokulawula iimpawu nokuphucula umgangatho wobomi.
- Kubaluleke kakhulu ukuxilonga isifo kwangethuba kwaye uhlolwe rhoqo phantsi kweqela loogqirha abaziingcali.
- Ukuba usapho lwakho lunembali yezi zifo, cinga ngokufuna iingcebiso ngemfuza ngaphambi kokuba nabantwana.
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