Ngaba unamabala okanye amaqhuma angaqhelekanga emzimbeni wakho? Masithethe ngeNeurofibromatosis (NF)!

Ngaba unazo ezo ndawo zinombala wekofu eluswini lwakho osenokuba uzibonile ukususela ebuntwaneni? Okanye ngaba ngamanye amaxesha unezinto ezincinci, ezinamaqhuqhuva ezibonakala kwiindawo ezithile emzimbeni wakho? Mhlawumbi ezi azizo nje iindawo ezinamaqhuqhuva. Namhlanje siza kuthetha ngemeko enokuba njalo, kwaye iyinkimbinkimbi kancinci kodwa iyaqondakala. Yiyo leyo iNeurofibromatosis , okanye iNF ngamafutshane.

Yintoni iNeurofibromatosis (NF)?

Ngamafutshane, iNeurofibromatosis (NF) liqela leemeko ezichaphazela inkqubo yethu yemithambo-luvo kunye nejini . Ichaphazela ingqondo yethu, umqolo, imithambo-luvo kunye nolusu. Iimpawu ozifumanayo zinokuhluka kumntu nomntu, kwaye ziyahluka ngokuxhomekeke kuhlobo lwe-NF onayo. Kodwa ezona mpawu ziqhelekileyo ziimpawu zokuzalwa kunye neethumba ezihlala zingengomhlaza (ezingenobungozi). Unokufumana esi sifo kusapho lwakho, oluyijini zakho. Kodwa ngokumangalisayo, malunga nama-50% amatyala, sinokwenzeka ngokungacwangciswanga, ngaphandle kwembali yosapho.

Ziziphi iintlobo eziphambili zeNeurofibromatosis (NF)?

Kukho iintlobo ezintathu eziphambili zezi NF. Masibone ukuba ziyintoni na.

1. Uhlobo lwe-Neurofibromatosis 1 (NF1)

Olu lolona hlobo luqhelekileyo lwe-NF. Luvela xa:

• Amabala eCafé au lait: La mabala abonakala ngathi ngamabala anombala wekofu. Angabonakala naphi na emzimbeni.
• IiNeurofibromas: Iithumba ezincinci ezikhula kwimithambo-luvo.
• Amabala emakhwapheni nasezingxoweni: Afana namachaphaza amancinci.
• Iithumba zemithambo-luvo ye-optic: Ezi zinokukhula kwimithambo-luvo edibana neliso.
• Ukukhubazeka kwamathambo: Umzekelo, izinto ezifana ne-scoliosis.

Khawucinge nje, kukho intombazana encinci egama linguNimali. Xa wazalwa, wayenamabala amaninzi anombala wekofu emzimbeni wakhe. Njengoko wayekhula kancinci, amabala amancinci abonakala emakhwapheni akhe. Kuphela xa wawabonisa ugqirha apho wafumanisa khona ukuba une-NF1.

2. I-Schwannomatosis enxulumene ne-NF2 (eyayisakuba yi-Neurofibromatosis type 2 (NF2))

Olu hlobo lwenzeka:

• Ii-neuromas ezikhula kancinci: Ezi zikwakhula nakwimithambo-luvo.
• Ukuphazamiseka kokuva: Ukulahlekelwa kukuva kunokwenzeka.
• Utshintsho lombono: Izinto ezifana ne-cataracts zinokwenzeka.
• Ukuba ndindisholo okanye ubuthathaka: Usenokuziva ngathi amalungu akho aphelile (peripheral neuropathy).

3. I-Schwannomatosis (SWN)

Olu lolona hlobo lunqabileyo . Kukho iintlobo ezahlukeneyo zale nto, kuxhomekeke kuguquko lwemfuza. Ngamanye amaxesha kusenokungabikho zimpawu konke konke. Kodwa ukuba iimpawu ziyavela, nazi ezinye izinto ezinokwenzeka:

• Iithumba zemithambo-luvo ezikhula kancinci (iSchwannomas):Ezi zinokwenzeka kuphela kwinxalenye enye yomzimba.
• Intlungu engapheliyo.
• Ukungaziva ngqindilili kunye nokudumba kwiminwe.

Ixhaphake kangakanani i-Neurofibromatosis (NF)?

Xa sithetha nje, i-NF1 imalunga ne-96% yazo zonke iimeko ze-NF. Oko kuthetha ukuba malunga nesinye kwiintsana ezingama-3,000 ezizalwa minyaka le kwihlabathi liphela sinaso. I-NF2 imalunga ne-3%, oko kukuthi, malunga nesinye kwiintsana ezingama-33,000 ezizalwayo. I-Schwannomatosis (SWN) ayixhaphakanga kangako, iyenzeka malunga ne-1%.

Zithini iimpawu zeNeurofibromatosis (NF)?

Njengoko besitshilo ngaphambili, iimpawu ziyahluka ngokuxhomekeke kuhlobo lwe-NF. Abanye abantu basenokungabi nazo iimpawu konke konke, ngelixa abanye banokuba neempawu eziqatha. Nangona kunjalo, kukho iimpawu ezimbini eziphambili eziqhelekileyo kuzo zontathu ezi ntlobo:

• Iithumba: Ezi ziziqwenga zezicubu ezithi zivele xa iiseli zidibana. Iintlobo ezahlukeneyo zeethumba ze-NF zenziwe ziintlobo ezahlukeneyo zeeseli. Ezi thumba zihlala zikhula kancinci kwaye azinazo umhlaza (ezingenobungozi) . Nangona kunjalo, kunqabile kakhulu, ezinye iithumba zinokuba ngumhlaza. Ezi thumba zenzeka kwimithambo-luvo zibizwa ngokuba yi -Neurofibromas .

• Ukukhula kolusu: Oku kuquka iimpawu zokuzalwa, ezifana neendawo ze-café au lait esixoxe ngazo ngaphambili, kunye nee-moles ezikhula emakhwapheni nakwiindawo ze-groin. Ngamanye amaxesha, amaqhuma amancinci, athambileyo, anobukhulu be-pea (i-cutaneous neurofibromas) anokukhula phezu kolusu.

Eyona nto ibalulekileyo kukuba ungoyiki ukuba une-NF kuba nje unamabala ambalwa anje. Nangona kunjalo, ukuba unamathandabuzo, kungcono ukufuna ingcebiso kagqirha.

Ukongeza kwezi mpawu ziphambili, ezinye iimpawu zinokuvela:

• Ukulahlekelwa kukuva okanye ukubona.
• I-Scoliosis.
• Ubuthathaka bemisipha.
• Ukungaziva okanye ukurhawuzelela kwamalungu omzimba.
• Iintlungu zomzimba kunye nentloko ebuhlungu.
• Utshintsho kwindlela yokuziphatha, olufana nokunqongophala kwengqalelo/ingxaki yokungakwazi ukusebenza kakuhle (ADHD).
• Ubunzima bokufunda.
• Iimeko ezifana nokuxhuzula.

Ubonakala njani umntu one-Neurofibromatosis (NF)?

Oku kuyahluka ngokwenene kumntu nomntu. Abanye abantu banokubona amaqhuma amancinci, angqukuva (malunga nesentimitha ububanzi, malunga nobukhulu be-pea) eluswini lwabo. La ngamaqhuma e-neurofibroma. Abanye abantu banokuba namaqhuma angaphezu kwamabini, okanye banokuba neqhuma elikhulu (plexiform neurofibroma) elenziwe ziimithambo-luvo ezininzi phantsi kolusu.

Sithethe ngamabala e-café au lait. La mabala anokwahluka ngobukhulu nangobume ukusuka kumbala othe tyaba, onsundu okhanyayo ukuya kumbala omdaka omdaka. Uya kubona amabala amathandathu nangaphezulu .

Kuqhelekile ukuba namabala ebusweni bethu. Kodwa kwi-NF, la mabala abonakala emakhwapheni nakwiindawo ezingaphakathi.Ezi zezona zixhaphakileyo. Zifana namachaphaza amancinci abomvu-mdaka.

Zibonakala xa zineminyaka emingaphi iimpawu zeNeurofibromatosis (NF)?

Oku kuyahluka kuye ngomntu nomntu. Ezinye iimpawu zinokubakho xa uzalwa. Ezinye zinokubonakala njengoko ukhula, xa uselula, okanye xa ungumntu omdala. Umzekelo, ii-neurofibromas zinokubakho eluswini lwabanye abantwana xa uzalwa. Kodwa amaxesha amaninzi zibonakala kwiminyaka yobutsha. Amabala e-café au lait aqhelekile kwiminyaka embalwa yokuqala yobomi bomntwana. Amabala e-groin nasemakhwapheni anokubonakala phakathi kweminyaka emi-3 ne-5. Iimpawu ze-schwannomatosis zihlala ziqala xa umntu emdala, malunga neminyaka engama-30.

Yintoni ebangela i-Neurofibromatosis (NF)?

Isizathu esiphambili soku kukutshintsha (ukuguqulwa) kwizakhi zofuzo zethu . Makhe sijonge ukuba yintoni ebangela uhlobo ngalunye:

• Uhlobo lwe-Neurofibromatosis 1 (NF1): Sine -gene ebizwa ngokuba yi-NF1 emzimbeni wethu. Oku kulawula ukuveliswa kweproteni ebizwa ngokuba yi-neurofibromin. Umsebenzi wale proteni kukucinezela ukwakheka kweethumba.
• I-schwannomatosis/Neurofibromatosis uhlobo 2 (NF2) olunxulumene ne-NF2: Oku kubangelwa yi-gene ebizwa ngokuba yi-NF2 (merlin) . Oku kulawula nenye iproteni ebizwa ngokuba yi-neurofibromin. Le proteni ikwathintela ukwakheka kweethumba.
• I-Schwannomatosis: Oku kunokubangelwa kukuguquka kwezakhi zofuzo kwi-SMARCB1 okanye kwi-LZTR1 . Nangona kunjalo, kwiimeko ezininzi, i-gene echanekileyo ebangela le meko ayinakuchongwa.

Ngamafutshane, ukuba kukho utshintsho oluthile nakweyiphi na kwezi jini zine, iiproteni azifumani miyalelo ifunekayo yokulawula ukukhula kweeseli zethu. Kulapho ke iithumba ziqala ukwakheka khona emzimbeni.

Ungayizuza i-NF1 okanye i-NF2 kubazali bakho, ebizwa ngokuba yi-autosomal dominant pattern . Oku kuthetha ukuba udinga kuphela ikopi ye-gene eguquliweyo komnye wabazali bakho ukuze ufumane le meko. Nangona kunjalo, malunga nesiqingatha sabantu abane-NF1 bayiphuhlisa ngokuzenzekelayo, ngaphandle kwembali yosapho. Oku kunokwenzeka nakubantu abane-NF2. Malunga nama-85% abantu abane-schwannomatosis baphuhlisa le meko ngokuzenzekelayo, ngaphandle kwembali yosapho.

Ziziphi izinto ezibangela umngcipheko we-Neurofibromatosis (NF)?

Le meko inokuvela nakubani na, kodwa ukuba umntu kusapho lwakho unenye yezi meko ze-NF, nawe unokuba nayo.

Ziziphi iingxaki ezinokubakho zeNeurofibromatosis (NF)?

I-NF inokubangela iingxaki ezithile. Ezinye zazo zezi:

• Ukulahlekelwa kukuva.
• Ukubona okunciphileyo.
• Intlungu engapheliyo.
• Iingxaki zokufunda kunye nokuziphatha.
• Iimeko zentliziyo - umzekelo, uxinzelelo lwegazi oluphezulu, iimeko zentliziyo zokuzalwa.
• Iingxaki zokuzihlonipha ngenxa yeemeko zesikhumba.
• Umngcipheko ophezulu wokuba nomhlaza kunabantu ngokubanzi, kuquka umhlaza webele kunye nomhlaza wezicubu ezithambileyo (i-sarcoma).

Kubalulekile: Uninzi lwee-tumor ze-NF azingomhlaza. Nangona kunjalo, kunqabile kakhulu ukuba ezinye ii-tumor ze-NF zibe ngumhlaza. Ke ngoko, kubaluleke kakhulu ukuba uhlolwe rhoqo ngugqirha.

Ifunyanwa njani i-Neurofibromatosis (NF)?

Ugqirha uza kukuxilonga aze enze uvavanyo olufunekayo ukuze kufunyaniswe i-NF. Baza kuqala baxilonge ulusu lwakho ukuze bajonge iimpawu zeendawo ezibizwa ngokuba zii-cafe au lait spots okanye ii-neurofibromas. Baza kujonga ne-scoliosis, uxinzelelo lwegazi, umbono, kunye nokuva. Baza kubuza nangempilo yakho kunye nembali yezonyango yosapho lwakho. Ngoko ke, ukuba uyazi ukuba kukho umntu kusapho lwakho one-NF, qiniseka ukuba uxelela ugqirha wakho.

Iindlela zokuchonga uhlobo ngalunye lwe-NF zahlukile. Nangona uvavanyo lweklinikhi lunokwenza uxilongo, ezinye iimvavanyo zinokunceda ekufumaneni unobangela weempawu zakho. Uvavanyo lomfanekiso, olufana ne -MRI, i-X-ray, okanye i-CT scan, lunokubonisa indlela imeko eyichaphazele ngayo inkqubo yakho yemithambo-luvo. Uvavanyo lofuzo lunokunceda ekufumaneni utshintsho lwefuzo olubangela iimpawu zakho. Nangona kunjalo, oogqirha abakafumani zonke iifuzo ezibangela le meko.

Ngamanye amaxesha, iimpawu azifumaneki de kube yiminyaka emva kokuba zivele. Abanye abantu bafumaniseka sele bebadala. Oku kungenxa yokuba iimpawu ze-NF zikhula ngokuhamba kwexesha, ngamanqanaba.

Ziziphi iindlela zonyango lwe-Neurofibromatosis (NF)?

Oku kubaluleke kakhulu: Unyango lwakho lwe-NF kufuneka lube phantsi kwesikhokelo seqela loogqirha abanolwazi oluphezulu kwizigulane ze-NF . Eli qela lidla ngokuquka:

• Iingcali ze-neuro-oncologist.
• Iingcali zotyando lwengqondo.
• Oogqirha beendlebe, impumlo nomqala (iingcali ze-ENT).
• Iingcali zotyando lweplastiki.
• Iingcali zonyango lwengqondo.
• Iingcali zendlebe.
• Abacebisi ngemfuza.

Nangona okwangoku kungekho nyango lwe-NF, kukho inkqubela phambili eninzi ekuxilongweni nasekunyangweni kweethumba ezinxulumene ne-NF. Ugqirha wakho uza kukukhokela kunyango olungcono kakhulu kwimeko yakho.

Ukuba awunazo iimpawu, okanye iimpawu zakho aziphazamisi ubomi bakho bemihla ngemihla, usenokungadingi naluphi na unyango. Kwimeko enjalo, ugqirha wakho uya kukucela ukuba uze kuhlolwa kanye okanye kabini ngonyaka ukuze ajonge inkqubela yesifo.

Ugqirha angacebisa unyango olufana nolu:

• Ukususwa kwethumba:Utyando lunokususa iithumba eluswini nakwezinye iindawo emzimbeni.
• Amayeza: Eli yeza i- selumetinib livunyiwe yi-US Food and Drug Administration (FDA) ukunqanda ukukhula kweeseli zethumba kubantwana abaneminyaka ephakathi kwemi-2 neyi-18 ubudala abane-NF1 abaneethumba ze-plexiform neurofibroma ezingenakususwa ngotyando, okanye iithumba zabo zibangele ukukhubazeka okanye ukubola.
• Utyando lokulungisa iingxaki zokukhula kwamathambo: Ukuba une-scoliosis okanye ezinye iingxaki zokukhula kwamathambo, ugqirha wakho unokucebisa ukuba ufake i-brace okanye, kwiimeko ezinzima, utyando.
• Unyango lweKhemotherapy: Olu nyango lunikezelwa kwiithumba ezinobungozi. Unyango lweKhemotherapy lutshabalalisa iiseli zomhlaza.
• Unyango ngemitha: Unyango ngemitha lungasetyenziselwa ukulawula ukukhula kwethumba kwimihlaza efana nomhlaza webele, umhlaza wezicubu ezithambileyo obizwa ngokuba yi-sarcoma, i-malignant peripheral nerve sheath tumors (MPNST), okanye i-glioma (ithumba lobuchopho).

Ukuba ukuva okanye ukubona kwakho kuchaphazelekile yi-NF, ugqirha wakho unokucebisa izixhobo zokuncedisa ezifana nezixhobo zokuva okanye iilensi zokulungisa.

Ngaba kukho naziphi na iziphumo ebezingalindelekanga zonyango?

Lonke unyango luneziphumo ebezingalindelekanga. Ugqirha wakho uza kuxoxa nawe ngale miphumo ngaphambi kokuba uqale unyango.

Iziphumo ebezingalindelekanga ezinokubakho zotyando:

• Ukopha.
• Usulelo.
• I-Neurofibromas iyabuya emva kokususwa.
• Umonakalo wemithambo-luvo.

Iziphumo ebezingalindelekanga ze-chemotherapy:

• Ukudinwa.
• Urhudo okanye ukuqhina.
• Ukulahleka kweenwele.
• Ukutya akunancasa.
• Isicaphucaphu nokuhlanza.

Ingakanani iminyaka yobomi bomntu one-Neurofibromatosis (NF)?

I-Neurofibromatosis (NF) ayidli ngokuba nefuthe elikhulu kwixesha olindeleke ukuba uphile ngalo. Nangona kunjalo, ngokuxhomekeke kwindawo ekuyo iithumba, eminye yemisebenzi yakho yemihla ngemihla, njengokuva nokubona, inokuba nzima ukuyenza ngaphandle koncedo. Ukuba ayinyangwa, ezinye iingxaki, ezifana nomhlaza, zinokuba yingozi ebomini.

Ngaba i-Neurofibromatosis (NF) ingathintelwa?

Okwangoku akukho ndlela eyaziwayo yokuthintela i-NF. Ukuba uceba ukuqala usapho, kulungile ukuthetha nomcebisi wezemfuza ukuze ufunde ngakumbi ngomngcipheko wokuba nomntwana onemeko yemfuza.

Ndifanele ndimbone nini ugqirha?

Bona ugqirha ukuba wena okanye umntwana wakho nibona naziphi na ezi mpawu ze-NF eluswini lwakhe:

• Ukuba neendawo ezintandathu nangaphezulu zekhefi okanye i-lait.
• Amaqhuma esikhumba avela ngaphandle kwesizathu.
• Ukuba namabala emakhwapheni okanye emathunjini.

Ezinye iimpawu ezifuna ukubona ugqirha:

• Utshintsho kwindlela ova ngayo kunye/okanye ekuboneni.
• Intlungu engenasizathu.
• Ubuthathaka bemisipha.
• Ukuba ndindisholo okanye ukurhawuzelela kwiminwe nakwiinzwane.

Ukuba une-NF, ugqirha wakho uya kucebisa ukuba uze kuhlolwa rhoqo (ngesiqhelo rhoqo emva kweenyanga ezi-6 ukuya kwezili-12) ukuze ujonge iimpawu zakho. Qiniseka ukuba ucwangcisa idinga elongezelelweyo ukuba ubonakalisa iimpawu ezintsha okanye ukuba uphawu olukhoyo luya lusiba mandundu.

Ndingayibuza yiphi imibuzo ugqirha wam?

• Yintoni ebangela iimpawu zam?
• Iyintoni ingozi yokuba abantwana bam bexesha elizayo bafumane esi sifo njengelifa?
• Luhlobo luni lonyango olucetyiswayo?
• Ngaba kukho naziphi na iziphumo ebezingalindelekanga zonyango?
• Ndifanele ndize kangaphi ukuze ndifumane iimvavanyo zokulandelela?
• Ngaba kukho naziphi na iimvavanyo zeklinikhi endinokuzifikelela?
• Ngaba kufuneka ndidibane nengcali yokuzala?

I-Neurofibromatosis yimeko echaphazela inkqubo yakho yemithambo-luvo kunye nolusu. Inokukuchaphazela ngeendlela ezahlukeneyo. Usenokuba neempawu eziphazamisana nemisebenzi yakho yemihla ngemihla, okanye ungabi nazo kwaphela iimpawu. Rhoqo, kuxhomekeke kwindlela iimpawu zakho ezikhula ngayo njengoko ukhula, kungathatha iminyaka ukufumana uxilongo olusemthethweni. Nje ukuba ufumane olu xilongo, ukwazi kakuhle okwenzekayo kunokuba luncedo olukhulu. Iqela lakho lezonyango linokukunceda ufunde ngakumbi malunga nendlela le meko enokukuchaphazela ngayo wena kunye nosapho lwakho lwexesha elizayo. Nangona kungekho nyango, kukho iindlela zonyango.

Eyona nto ibalulekileyo ekufuneka uyikhumbule (Umyalezo Wokuya Ekhaya)

I-Neurofibromatosis (NF) ayisiyonto yokoyika, kodwa yinto ekufuneka uyiqaphele.

• Ukuba unamabala angaqhelekanga, amaqhuma eluswini lwakho, okanye amabala amaninzi emakhwapheni/empumlweni yakho, bona ugqirha .
• Kukho iintlobo ezahlukeneyo ze-NF, kwaye iimpawu zahlukile nganye nganye.
• Le yimeko yemfuza, kodwa ayisoloko isenzeka kwiintsapho.
• Nangona kungekho nyango, kukho iindlela ezininzi zonyango ezifumanekayo zokunceda ukulawula iimpawu nokuphila ubomi obungcono .
• Kubaluleke kakhulu ukufumana unyango phantsi kweliso leqela lezonyango eliyingcali.
• Kubalulekile ukuba uhlolwe rhoqo ngugqirha kwaye uqaphele iimpawu ezintsha.

Ukuba uneminye imibuzo malunga noku, ungathandabuzi ukuthetha nogqirha wakho. Baya kukuvuyela ukukunceda.

I- Neurofibromatosis, i-NF, iithumba zemithambo-luvo, amabala e-café-au-lait, izifo zemfuza, amabala esikhumba, inkqubo yemithambo-luvo