Ingabe unamabala noma izigaxa ezingajwayelekile emzimbeni wakho? Ake sixoxe nge-Neurofibromatosis (NF)!

Ingabe unawo lawo mabala anombala wekhofi esikhumbeni sakho okungenzeka ukuthi uwabonile kusukela useyingane? Noma ingabe ngezinye izikhathi unezinto ezincane, ezinamaqhubu ezivela ezindaweni ezithile emzimbeni wakho? Mhlawumbe lezi akuzona nje amabala noma amaqhubu. Namuhla sizokhuluma ngesimo esingaba njalo, futhi siyinkimbinkimbi kancane kodwa siyaqondakala. Leyo yi -Neurofibromatosis , noma i-NF ngamafuphi.

Kuyini i-Neurofibromatosis (NF)?

Kalula nje, i-Neurofibromatosis (NF) iyiqembu lezimo ezithinta uhlelo lwethu lwezinzwa kanye nezakhi zofuzo . Ithinta ubuchopho bethu, umgogodla, imizwa kanye nesikhumba. Izimpawu ozizwayo zingahluka kumuntu nomuntu, futhi ziyahlukahluka kuye ngohlobo lwe-NF onayo. Kodwa izimpawu ezivame kakhulu amamaki okuzalwa kanye nezimila ezivame ukungabi nomdlavuza (ezingemnandi). Ungazuza futhi lesi simo emndenini wakho, okuyizakhi zofuzo zakho. Kodwa ngokumangazayo, cishe ku-50% wamacala, singavela ngokungahleliwe, ngaphandle komlando womndeni.

Yiziphi izinhlobo eziyinhloko ze-Neurofibromatosis (NF)?

Kunezinhlobo ezintathu eziyinhloko zalezi NF. Ake sibone ukuthi ziyini.

1. Uhlobo lwe-Neurofibromatosis 1 (NF1)

Lolu uhlobo oluvame kakhulu lwe-NF. Luvela lapho:

• Izindawo ze-cafe au lait: Lezi zibukeka njengezibala ezinombala wekhofi. Zingavela noma kuphi emzimbeni.
• Ama-Neurofibromas: Amathumba amancane akheka ezinzwa.
• Amabala emakhwapheni nasezimbotsheni: Abukeka njengamachashazi amancane.
• Izimila zemizwa yokubona: Lezi zingakhula ezinzwaneni ezixhumene neso.
• Ukukhubazeka kwamathambo: Isibonelo, izinto ezifana ne-scoliosis.

Cabanga nje, kukhona intombazanyana egama layo linguNimali. Lapho izalwa, yayinamabala amaningana anombala wekhofi obisi emzimbeni wayo. Njengoba ikhula kancane, amabala amancane nawo avela emakhwapheni ayo. Kwaba yilapho kuphela lapho iwabonisa udokotela lapho yathola khona ukuthi ine-NF1.

2. I-Schwannomatosis ehlobene ne-NF2 (eyayibizwa ngokuthi i-Neurofibromatosis uhlobo 2 (NF2))

Lolu hlobo lwenzeka:

• Ama-neuromas akhula kancane: Lawa aphinde akheke eduze kwemizwa.
• Ukukhubazeka kokuzwa: Ukulahlekelwa ukuzwa kungenzeka.
• Ukushintsha kombono: Izinto ezifana ne-cataracts zingavela.
• Ukuba ndikindiki noma ubuthakathaka: Ungase uzizwe sengathi izitho zakho zomzimba azinangqondo (peripheral neuropathy).

3. I-Schwannomatosis (SWN)

Lolu uhlobo olungavamile kakhulu . Kunezinhlobo eziningana zalokhu, kuye ngokuguqulwa kwezakhi zofuzo. Ngezinye izikhathi kungase kungabi nazimpawu nhlobo. Kodwa uma kuvela izimpawu, nazi ezinye izinto ezingenzeka:

• Izimila zemizwa ezikhula kancane (i-Schwannomas):Lokhu kungenzeka kuphela engxenyeni eyodwa yomzimba.
• Ubuhlungu obungapheli.
• Ukuba ndikindiki nokuvuvukala ezinzwaneni zeminwe.

Ivame kangakanani i-Neurofibromatosis (NF)?

Uma sikhuluma nje, i-NF1 ibangela cishe u-96% wazo zonke izimo ze-NF. Lokho kusho ukuthi cishe ingane eyodwa kwezingu-3,000 ezizalwa minyaka yonke emhlabeni wonke inaso. I-NF2 ibangela cishe u-3%, okungukuthi, cishe ingane eyodwa kwezingu-33,000 ezizalwayo. I-Schwannomatosis (SWN) ayivamile kakhulu, iyenzeka cishe ku-1%.

Ziyini izimpawu ze-Neurofibromatosis (NF)?

Njengoba sishilo ekuqaleni, izimpawu ziyahlukahluka kuye ngohlobo lwe-NF. Abanye abantu bangase bangabi nazimpawu nhlobo, kanti abanye bangase babe nezimpawu ezinzima. Kodwa-ke, kunezici ezimbili eziyinhloko ezivamile kuzo zonke izinhlobo ezintathu:

• Amathumba: Lawa amaqhubu ezicubu akha lapho amaseli ehlangana. Izinhlobo ezahlukene zamathumba e-NF zakhiwe ngezinhlobo ezahlukene zamaseli. Lawa maqhubu avame ukukhula kancane futhi awawona umdlavuza (angabi yingozi) . Kodwa-ke, akuvamile kakhulu, amanye amaqhubu angaba umdlavuza. Lawa maqhubu akha emithanjeni abizwa ngokuthi ama-Neurofibromas .

• Ukukhula kwesikhumba: Lokhu kufaka phakathi izimpawu zokuzalwa, njengezindawo ze-café au lait esixoxe ngazo ekuqaleni, kanye nama-moles akhula emakhwapheni nasezindaweni zezimbotshana. Ngezinye izikhathi, amaqhubu amancane, athambile, angangophizi (i-cutaneous neurofibromas) nawo angakhula ebusweni besikhumba.

Into ebaluleke kakhulu ukungesabi ukuthi une-NF ngoba nje unezindawo ezimbalwa ezinjengalezi. Kodwa-ke, uma unokungabaza, kungcono ukufuna iseluleko sezokwelapha.

Ngaphezu kwalezi zimpawu eziyinhloko, ezinye izimpawu zingase zivele:

• Ukulahlekelwa ukuzwa noma ukubona.
• I-Scoliosis.
• Ubuthakathaka bemisipha.
• Ukuba ndikindiki noma ukuqaqamba kwamalungu.
• Ubuhlungu bomzimba kanye nekhanda elibuhlungu.
• Izinguquko zokuziphatha, njenge-Attention-Deficit/Hyperactivity Disorder (ADHD).
• Ubunzima bokufunda.
• Izimo ezifana nokuquleka.

Ubukeka kanjani umuntu one-Neurofibromatosis (NF)?

Lokhu kuyahlukahluka ngempela kuye ngomuntu nomuntu. Abanye abantu bangase babone amaqhubu amancane, ayindilinga (cishe isentimitha ububanzi, cishe ubukhulu bephizi) esikhumbeni sabo. Lawa ama-neurofibroma. Abanye abantu bangase babe namaqhubu angaphezu kwamabili, noma bangase babe neqhubu elikhulu (plexiform neurofibroma) elakhiwe yizinzwa eziningana ngaphansi kwesikhumba.

Sixoxe ngamabala e-café au lait. Lawa angahluka ngobukhulu nesimo kusukela kunsundu okhanyayo, ocwebezelayo kuya kunsundu omnyama. Ngokuvamile uzobona ayisithupha noma ngaphezulu alawa mabala.

Kuvamile ukuba namabala ebusweni bethu. Kodwa ku-NF, lawa mabala avela emakhwapheni nasezindaweni zezimbotshana.Lezi yizona ezivame kakhulu. Zibukeka njengamachashazi amancane, abomvu ngokunsundu.

Izimpawu ze-Neurofibromatosis (NF) zivela nini eminyakeni emingaki?

Lokhu kuyahlukahluka kuye ngomuntu nomuntu. Ezinye izimpawu zingase zibe khona lapho uzalwa. Ezinye zingase zivele njengoba ukhula, usemusha, noma usumdala. Isibonelo, ama-neurofibroma angaba khona esikhumbeni sezingane ezithile lapho zizalwa. Kodwa ngokuvamile avame ukubonakala eminyakeni yobusha. Amabala e-café au lait avame kakhulu eminyakeni embalwa yokuqala yokuphila kwengane. Amabala e-groin nasemakhwapheni angabonakala phakathi kweminyaka emi-3 nengu-5. Izimpawu ze-schwannomatosis zivame ukuqala lapho umuntu emdala, cishe eneminyaka engama-30.

Yini ebangela i-Neurofibromatosis (NF)?

Isizathu esiyinhloko salokhu ushintsho (ukuguquka) ezizakhini zethu zofuzo . Ake sibheke ukuthi yini ebangela uhlobo ngalunye:

• I-Neurofibromatosis uhlobo 1 (NF1): Sine -gene ebizwa ngokuthi i-NF1 emzimbeni wethu. Lokhu kulawula ukukhiqizwa kweprotheni ebizwa ngokuthi i-neurofibromin. Umsebenzi wale protheni ukucindezela ukwakheka kwezimila.
• I-schwannomatosis/Neurofibromatosis uhlobo 2 (NF2) oluhlobene ne-NF2: Lokhu kubangelwa yi -gene ebizwa nge-NF2 (merlin) . Lokhu kulawula nenye iphrotheni ebizwa nge-neurofibromin. Le phrotheni iphinde icindezele ukwakheka kwezimila.
• I-Schwannomatosis: Lokhu kungabangelwa izinguquko ezakhiweni ze-SMARCB1 noma i-LZTR1 . Kodwa-ke, ezimweni eziningi, i-gene eqondile ebangela lesi simo ayikwazi ukutholakala.

Kalula nje, uma kukhona ukuguquka kunoma yiliphi lala ma-gene amane, amaprotheni awatholi imiyalelo edingekayo yokulawula ukukhula kwamangqamuzana ethu. Yilapho-ke amathumba eqala ukwakheka khona emzimbeni.

Ungathola i-NF1 noma i-NF2 kubazali bakho, okubizwa ngokuthi i-autosomal dominant pattern . Lokhu kusho ukuthi udinga kuphela ukuthola ikhophi yejini elishintshiwe komunye wabazali bakho ukuze uthole lesi simo. Kodwa-ke, cishe ingxenye yabantu abane-NF1 bayithuthukisa ngokuzenzekelayo, ngaphandle komlando womndeni. Lokhu kungenzeka nakubantu abane-NF2. Cishe abantu abangu-85% abane-schwannomatosis bathuthukisa lesi simo ngokuzenzekelayo, ngaphandle komlando womndeni.

Yiziphi izici eziyingozi ze-Neurofibromatosis (NF)?

Lesi simo singakhula kunoma ubani, kodwa uma othile emndenini wakho enesinye salezi zimo ze-NF, nawe unamathuba amaningi okuba naso.

Yiziphi izinkinga ezingaba khona ze-Neurofibromatosis (NF)?

I-NF ingabangela ezinye izinkinga. Ezinye zazo yilezi:

• Ukulahlekelwa ukuzwa.
• Ukwehla kokubona.
• Ubuhlungu obuqhubekayo.
• Izinkinga zokufunda nokuziphatha.
• Izimo zenhliziyo - isibonelo, umfutho wegazi ophakeme, izimo zenhliziyo zokuzalwa nazo.
• Izinkinga zokuzethemba ngenxa yezimo zesikhumba.
• Ingozi ephezulu yokuba nomdlavuza kunabantu abaningi, okuhlanganisa umdlavuza webele kanye nomdlavuza wezicubu ezithambile (i-sarcoma).

Okubalulekile: Iningi lezimila ze-NF aziwona umdlavuza. Kodwa-ke, akuvamile kakhulu, ezinye izimila ze-NF zingaba umdlavuza. Ngakho-ke, kubaluleke kakhulu ukuhlolwa njalo kwezokwelapha.

I-Neurofibromatosis (NF) itholakala kanjani?

Udokotela uzokuxilonga futhi enze izivivinyo ezidingekayo ukuze axilonge i-NF. Bazoqala bahlole isikhumba sakho ukuze bahlole izimpawu zamabala e-cafe au lait noma ama-neurofibromas. Bazophinde bahlole i-scoliosis, umfutho wegazi, umbono, kanye nokuzwa. Bazophinde babuze ngempilo yakho kanye nomlando wezokwelapha womndeni. Ngakho-ke, uma wazi ukuthi othile emndenini wakho une-NF, qiniseka ukuthi utshela udokotela wakho.

Izindlela zokuxilonga uhlobo ngalunye lwe-NF zihlukile. Nakuba ukuhlolwa kwezokwelapha kungenza ukuxilongwa, ezinye izivivinyo zingasiza ekutholeni imbangela yezimpawu zakho. Izivivinyo zokuthwebula izithombe, njenge -MRI, i-X-ray, noma i-CT scan, zingabonisa ukuthi lesi simo sithinte kanjani isimiso sakho sezinzwa. Ukuhlolwa kwezakhi zofuzo kungasiza futhi ekuboneni ukuguqulwa kwezakhi zofuzo okubangela izimpawu zakho. Kodwa-ke, odokotela abakakazitholi zonke izakhi zofuzo ezibangela lesi simo.

Ngezinye izikhathi, izimpawu azitholakali kuze kube yiminyaka eminingi zivele. Abanye abantu batholakala sebebadala. Lokhu kungenxa yokuthi izimpawu ze-NF ziyakhula ngokuhamba kwesikhathi, ngezigaba.

Yiziphi izindlela zokwelapha i-Neurofibromatosis (NF)?

Lokhu kubaluleke kakhulu: Ukwelashwa kwakho kwe-NF kufanele kube ngaphansi kokuqondiswa kwethimba lodokotela elinolwazi oluningi ngeziguli ze-NF . Leli qembu livame ukufaka:

• Odokotela bezifo ze-neuro-oncologist.
• Odokotela abahlinza izinzwa.
• Odokotela abahlinzayo bezindlebe, impumulo nomphimbo (odokotela be-ENT).
• Odokotela abahlinzayo bepulasitiki.
• Odokotela bezengqondo.
• Odokotela bezindlebe.
• Abeluleki bezakhi zofuzo.

Nakuba okwamanje kungekho ukwelashwa kwe-NF, kunentuthuko eminingi ekuxilongweni nasekwelapheni izimila ezihlobene ne-NF. Udokotela wakho uzokuqondisa ekwelashweni okungcono kakhulu kwesimo sakho.

Uma ungenazo izimpawu, noma izimpawu zakho zingaphazamisi impilo yakho yansuku zonke, ungase ungadingi ukwelashwa. Uma kunjalo, udokotela wakho uzokucela ukuthi uze uzohlolwa kanye noma kabili ngonyaka ukuze aqaphe inqubekela phambili yesifo.

Udokotela angase ancome izindlela zokwelapha ezifana nalezi:

• Ukususwa kwesimila:Ukuhlinzwa kungasusa izimila esikhumbeni nakwezinye izindawo emzimbeni.
• Imithi: Umuthi i -selumetinib uvunyelwe yi-US Food and Drug Administration (FDA) ukuvimba ukukhula kwamaseli esimila ezinganeni eziphakathi kweminyaka engu-2 no-18 ezine-NF1 ezinezimila ze-plexiform neurofibroma ezingenakususwa ngokuhlinzwa, noma ezinezimila ezibangele ukukhubazeka noma ukuwohloka kwesimo.
• Ukuhlinzwa ukuze kulungiswe ukukhubazeka kokukhula kwamathambo: Uma une-scoliosis noma ezinye izinkinga zokukhula kwamathambo, udokotela wakho angase akuncome ukuthi ufake i-brace noma, ezimweni ezimbi kakhulu, ukuhlinzwa.
• Ukwelashwa ngamakhemikhali: Lokhu kwelashwa kunikezwa izimila ezinobungozi. Ukwelashwa ngamakhemikhali kubhubhisa amangqamuzana omdlavuza.
• Ukwelashwa ngemisebe: Ukwelashwa ngemisebe kungasetshenziswa ukulawula ukukhula kwesimila emidlavuzeni efana nomdlavuza webele, umdlavuza wezicubu ezithambile obizwa ngokuthi i-sarcoma, ama-malignant peripheral nerve sheath tumors (MPNST), noma i-glioma (isimila sobuchopho).

Uma ukuzwa noma ukubona kwakho kuthintwa yi-NF, udokotela wakho angase ancome amadivayisi okusiza njengezinsiza zokuzwa noma amalensi okulungisa.

Ingabe ikhona imiphumela emibi yokwelashwa?

Yonke imithi yokwelapha inemiphumela emibi engaba khona. Udokotela wakho uzoxoxa nawe ngayo ngaphambi kokuba uqale ukwelashwa.

Imiphumela emibi engaba khona yokuhlinzwa:

• Ukopha.
• Ukutheleleka.
• Ama-neurofibroma abuya ngemva kokususwa.
• Ukulimala kwemizwa.

Imiphumela emibi ye-chemotherapy:

• Ukukhathala.
• Uhudo noma ukuqunjelwa.
• Ukulahlekelwa izinwele.
• Ukudla akunambitheki.
• Isicanucanu nokuhlanza.

Ingakanani iminyaka yokuphila yomuntu one-Neurofibromatosis (NF)?

I-Neurofibromatosis (NF) ngokuvamile ayinawo umthelela omkhulu esikhathini okulindeleke ukuba uphile ngaso. Kodwa-ke, kuye ngokuthi izimila zikuphi, eminye yemisebenzi yakho yansuku zonke, njengokuzwa nokubona, ingaba nzima ukuyenza ngaphandle kosizo. Uma ingelashwa, ezinye izinkinga, njengomdlavuza, zingaba yingozi empilweni.

Ingabe i-Neurofibromatosis (NF) ingavinjelwa?

Okwamanje ayikho indlela eyaziwayo yokuvimbela i-NF. Uma uhlela ukuqala umndeni, kungumqondo omuhle ukukhuluma nomeluleki wezakhi zofuzo ukuze ufunde kabanzi ngengozi yokuba nengane enesifo sofuzo.

Kufanele ngimbone nini udokotela?

Bona udokotela uma wena noma ingane yakho nibona noma yiziphi zalezi zimpawu ze-NF esikhumbeni sayo:

• Ukuba nezindawo eziyisithupha noma ngaphezulu ze-cafe au lait.
• Amaqhubu esikhumba avela ngaphandle kwesizathu.
• Ukuba namabala emakhwapheni noma emathunjini.

Ezinye izimpawu ezidinga ukubona udokotela:

• Izinguquko ekuzweni kwakho kanye/noma ekuboneni.
• Ubuhlungu ngaphandle kwesizathu.
• Ubuthakathaka bemisipha.
• Ukuba ndikindiki noma ukuqaqamba kweminwe nezinzwane.

Uma une-NF, udokotela wakho cishe uzoncoma ukuthi uze uzohlolwa njalo (ngokuvamile njalo ezinyangeni ezingu-6 kuya kwezingu-12) ukuze aqaphe izimpawu zakho. Qiniseka ukuthi uhlela i-aphoyintimenti eyengeziwe uma uthola izimpawu ezintsha noma uma uphawu olukhona luba lubi kakhulu.

Yimiphi imibuzo okufanele ngiyibuze udokotela wami?

• Yini ebangela izimpawu zami?
• Iyini ingozi yokuthi izingane zami zesikhathi esizayo zizuze lesi simo njengefa?
• Hlobo luni lokwelashwa olunconywayo?
• Ingabe ikhona imiphumela emibi yokwelashwa?
• Kufanele ngize kangaki ukuze ngithole izivivinyo zokulandelela?
• Ingabe kukhona izivivinyo zemitholampilo engingazithola?
• Ingabe kufanele ngibone uchwepheshe wezenzalo?

I-Neurofibromatosis yisimo esithinta uhlelo lwakho lwezinzwa kanye nesikhumba. Singakuthinta ngezindlela ezahlukene. Ungase ube nezimpawu eziphazamisa imisebenzi yakho yansuku zonke, noma ungase ungabi nazo nhlobo izimpawu. Ngokuvamile, kuye ngokuthi izimpawu zakho zikhula kanjani njengoba ukhula, kungathatha iminyaka ukuthola ukuxilongwa okusemthethweni. Uma usuthole lokhu kuxilongwa, ukwazi kahle ukuthi kwenzekani kungaba impumuzo enkulu. Ithimba lakho lezokwelapha lingakusiza ufunde kabanzi ngokuthi lesi simo singakuthinta kanjani wena kanye nomndeni wakho wesikhathi esizayo. Nakuba kungekho ikhambi, kunezindlela zokwelapha.

Into ebaluleke kakhulu okufanele uyikhumbule (Umyalezo Wokuya Ekhaya)

I-Neurofibromatosis (NF) akuyona into okufanele uyesabe, kodwa kuyinto okufanele uyiqaphele.

• Uma unamabala angavamile, izigaxa esikhumbeni sakho, noma amabala amaningi emakhwapheni/ebunzini lakho, bona udokotela .
• Kunezinhlobo ezahlukene ze-NF, futhi izimpawu zihlukile ngayinye.
• Lesi yisimo sofuzo, kodwa asihlali sikhona emindenini.
• Nakuba kungekho ikhambi, kunezindlela eziningi zokwelapha ezitholakalayo zokusiza ukulawula izimpawu nokuphila impilo engcono .
• Kubaluleke kakhulu ukuthola ukwelashwa ngaphansi kokuqondisa kwethimba lezokwelapha elikhethekile.
• Kubalulekile ukuhlolwa njalo kwezokwelapha futhi uqaphele izimpawu ezintsha.

Uma uneminye imibuzo mayelana nalokhu, ungangabazi ukukhuluma nodokotela wakho. Bazokujabulela ukukusiza.

I- Neurofibromatosis, i-NF, izimila zemizwa, izindawo ze-café-au-lait, izifo zofuzo, izindawo zesikhumba, isimiso sezinzwa