Ukuthi yini i-Neurofibromatosis Uhlobo 1? Izimpawu, Izimbangela, & Ukwelashwa

I-Neurofibromatosis uhlobo 1 (NF1) yisimo sezofuzo esithinta indlela amaseli ezinzwa akhula futhi athuthukiswe ngayo emzimbeni wakho. Ibanga ukukhula kwama-tumors angalimi ebizwa ngama-neurofibromas ezinzwa zakho, futhi idala amamaki olukhuni oluqondiwe odokotela abangawabona.

Cishe umuntu omunye ku-3,000 uzelwe ene-NF1, okwenza kube yisimo sezofuzo esivamile kakhulu. Nakuba igama lingase lizwakale liyesabekisa, abantu abaningi abane-NF1 baphila impilo egcwele, esebenzayo ngokunakekelwa komdlavuza okufanele nokubhekwa.

Yini i-Neurofibromatosis Uhlobo 1?

I-NF1 kwenzeka lapho kunenguquko e-gene ye-NF1, evamise ukulawula ukukhula kwamaseli. Uma le gene ingasebenzi kahle, amaseli angakhula ngezindlela okungafanele, okuholela ezimpawu ezibonakalayo zesimo.

Lesi simo sithinta i-nervous system yakho, isikhumba, namagagasi. Abantu abaningi abane-NF1 bathuthukisa ama-café-au-lait amaningi (amamaki okuzalwa anemibala yekhofi) nama-bumps amancane, abuthakathaka ngaphansi kwesikhumba sabo ebizwa ngama-neurofibromas.

I-NF1 ikhona kusukela ekuzalweni, nakuba ezinye izici zingase zingabonakali kuze kube kamuva ebuntwaneni noma ngisho nasebudaleni. Umuntu ngamunye onenF1 uyayizwa ngokuhlukile, ngisho nasemhlabeni omnye.

Ziyini izimpawu ze-Neurofibromatosis Uhlobo 1?

Izimpawu ze-NF1 zingase zihluke kakhulu kumuntu ngamunye, kodwa kunezibonakaliso ezivamile odokotela abazibheka. Ake sihambe ngalokho ongase ukubone, siqale ngezici ezivamile.

Izimpawu ezivamile zihlanganisa:

• Ama-café-au-lait spots - amamaki okuzalwa anemibala yekhofi, avame ukuba khona kusukela ekuzalweni
• Ama-Neurofibromas - ama-bumps abuthakathaka, anembala yenyama akhula ezinzwini ngaphansi kwesikhumba
• Ukubola ezindaweni ezingavamile njengezitho, i-groin, noma ngaphansi kwamabele
• Ama-Lisch nodules - ama-spots amancane, angalimi engxenyeni ebonakalayo yamehlo akho
• Ukwehluka kokufunda noma izinselele zokuqaphela
• Ubukhulu bekhanda obukhulu kunokuvamile
• Ubude obukhulu kunamalungu omndeni

Lezi zici zivame ukuthuthuka kancane ngokuhamba kwesikhathi. Ama-café-au-lait spots avame ukuvela kuqala, ngezinye izikhathi ngisho nangaphambi kokuzalwa, kuyilapho ama-neurofibromas avame ukuvela phakathi neminyaka yobusha noma kamuva.

Izimpawu ezingavamile kodwa ezibalulekile zingabandakanya:

• Ukushintsha kwamagagasi noma ukukhula okungalungile kwamagagasi
• Ukuphindaphindeka kwegazi elikhulu ebusheni
• Ukuhlushwa noma izikhathi zokukhathazeka
• Izinkinga zokubona noma ukungahambisani kwamehlo
• I-Scoliosis (umgogodla oqondile)
• Ukulibaziseka kokukhuluma noma ubunzima

Abanye abantu nabo baye baba nezinkinga zenhlalo nezingqondo ezihlobene nokuhluka okuqondile noma ubunzima bokufunda. Kuyaqondakala ukukhathazeka ngalezi zinguquko, futhi ukwesekwa kukhona.

Yini ebangela i-Neurofibromatosis Uhlobo 1?

I-NF1 ibangelwa yizinguquko (izinguquko) e-gene ye-NF1, esebenza njenge-brake pedal yokukhula kwamaseli. Uma le gene ingasebenzi kahle, amaseli angakhula futhi azale lapho kufanele ayeke.

Cishe ingxenye yabantu abane-NF1 bayadlulisela lesi simo kumzali onalesi simo. Uma omunye umzali enenF1, umntwana ngamunye unethuba le-50% lokudlulisela lesi simo - kufana nokuphehla i-coin.

Ingxenye yesibili yabantu abane-NF1 yiyona yokuqala emndenini wabo ukuba nayo. Lokhu kwenzeka lapho kunenguquko entsha ye-genetic eyenzeka ngokungazelelwe, okuyinto engaqondakali futhi ayibangelwa yilutho abazali abalwenzile noma abangazange balwenze.

Uma usuvele une-NF1, uzohlala unayo, futhi ungayidlulisela kubantwana bakho. Noma kunjalo, ukuba nenguquko ye-gene akuqondi ukuthi lesi simo sizokuthinta kangakanani.

Nini kufanele ubona udokotela nge-Neurofibromatosis Uhlobo 1?

Kufanele ucabange ukubona udokotela uma ubona ama-café-au-lait amaningi kuwe noma kumntanakho, ikakhulukazi uma kukhona ama-spots ayisithupha noma ngaphezulu amakhulu kunobubanzi be-eraser yepensile. Lezi zibonakaliso eziqondiwe yizona zokuqala odokotela abazibheka.

Kubalulekile futhi ukufuna ukunakekelwa kwezokwelapha uma uthuthukisa ama-bumps amasha ngaphansi kwesikhumba sakho, uhlangabezana nokuhluka kokubona, noma uqaphela ubunzima bokufunda obukhulu emndenini wakho. Ukubona kwasekuqaleni kungasiza ekuphathweni nasekubhekwini okungcono.

Funani ukunakekelwa kwezokwelapha ngokushesha uma uhlangabezana nalokhu:

• Izinhlungu zikhanda ezinzima ngokushesha noma ukushintsha kwemizamo yezinhlungu zikhanda
• Ubuthakathaka obusha noma ukungabi namandla ezandleni noma emilenzeni
• Ukukhula okusheshayo kwama-neurofibromas akhona
• Ukushintsha kokubona noma ubuhlungu lwamehlo
• Ukuhlushwa noma ukuphelelwa amandla
• Izimpawu ezinzima zokuphakama kwegazi

Ungalindi uma kukhona okubonakala kungalungile noma okuhlukile. Nakuba izimpawu eziningi ze-NF1 zithuthuka kancane, ezinye izinkinga zidinga ukunakekelwa ngokushesha ukuvimbela izinkinga ezinzima kakhulu.

Ziyini izici ezingozi ze-Neurofibromatosis Uhlobo 1?

I-risk factor ephambili ye-NF1 ukuba nomzali onalesi simo. Uma omunye wabazali bakho enenF1, unethuba le-50% lokudlulisela, kungakhathaliseki ubulili bakho noma ukubeka.

Kodwa-ke, umlando womndeni awulona njalo isiprofetho. Cishe ingxenye yabantu abane-NF1 yiyona yokuqala emndenini wabo ukuba nayo, ngenxa yezinguquko ze-genetic ezingenzeka kumuntu wonke.

Awekho ama-lifestyle factors, ukukhishwa komkhathi, noma ukuziphatha komuntu okuqeda ingozi yakho yokuthuthukisa i-NF1. Lesi simo senzeka ngokulinganayo kuwo wonke amaqembu ezizwe futhi sithinta amadoda nabesifazane ngokulinganayo.

Ubudala obukhulu babazali (ikakhulukazi oboyisi abangaphezu kuka-40) bungase buqede ingozi yezinguquko ze-genetic ezingalindelekile, kodwa lobu buhlobo busacwaningwa futhi ingozi iyonke ihlala iphansi.

Ziyini izinkinga ezingaba khona ze-Neurofibromatosis Uhlobo 1?

Nakuba abantu abaningi abane-NF1 baphila impilo enempilo, kubalulekile ukuqonda izinkinga ezingaba khona ukuze ukwazi ukusebenzisana neqembu lakho lokunakekelwa kwezokwelapha ukuze uqaphe futhi uphathe ngokuphumelelayo. Izinkinga eziningi ziyaphatheka uma zitholakala kwasekuqaleni.

Izinkinga ezivamile zihlanganisa:

• Ukwehluka kokufunda okuthinta cishe i-50-60% yabantu abane-NF1
• Ukuphindaphindeka kwegazi elikhulu, okungase kuvele kunoma yiliphi isikhathi
• Izinkinga zamagagasi njenge-scoliosis noma ukukhula okungalungile kwamagagasi
• Izinkinga zokubona kufaka phakathi iso elivilaphayo noma i-glaucoma
• Ukulibaziseka kokukhuluma nolimi kubantwana
• Izinselele zenhlalo nezingqondo ezihlobene nokubonakala

Lezi zinkinga zivame ukuthuthuka kancane futhi zingaphathwa ngokunakekelwa okufanele nokusekelwa. Ukubhekwa okuvamile kusiza ekutholeni izinkinga kwasekuqaleni lapho ukwelashwa kuphumelela kakhulu.

Izinkinga ezingavamile kodwa ezinzima zihlanganisa:

• Ama-tumors angalimi ezinzwa ezingaphandle (umdlavuza kuma-neurofibromas)
• Ama-Optic pathway gliomas (ama-tumors athinta i-vision nerves)
• I-Pheochromocytoma (ama-tumors athinta ukuphakama kwegazi)
• Ama-Gastrointestinal stromal tumors
• Ukungahambisani kwamagagasi okuthinta umsebenzi
• I-Moyamoya disease (izinkinga ze-blood vessel ebuchosheni)

Nakuba lezi zinkinga ezinzima zingavamile, zithinta abantu abangaphansi kuka-10% abane-NF1, ukubhekwa okuvamile kwezokwelapha kusiza ekutholeni kwasekuqaleni. Iqembu lakho lokunakekelwa kwezokwelapha lizoqonda izibonakaliso zokubheka nokuthi nini ukuhlolwa okwengeziwe kungase kudingeke.

I-Neurofibromatosis Uhlobo 1 ihlonishwa kanjani?

Ukuhlonishwa kwe-NF1 kuvame ukubandakanya ukuqaphela iphethini yezici ezithile kunokuthembela ekuhlolweni olulodwa. Odokotela basebenzisa izindinganiso ezimiswe ezibheka izibonakaliso eziningi zesimo ezivela ndawonye.

Udokotela wakho uzodinga ukuthola okungenani ezimbili zalezi zici ukuze enze ukuxilongwa: ama-café-au-lait spots ayisithupha noma ngaphezulu, ama-neurofibromas amabili noma ngaphezulu, ukubola ezindaweni ezingavamile, ama-Lisch nodules emehlweni, ama-tumors e-optic pathway, ukushintsha kwamagagasi okuqondiwe, noma umuntu omkhulu womndeni onenF1.

Inkqubo yokuxilongwa ivame ukubandakanya:

• Ukuhlolwa komzimba okuqondile kwesikhumba sakho nomzimba
• Ukuhlolwa kwamehlo ukubheka ama-Lisch nodules noma izinkinga zokubona
• Ukubuyekezwa komlando womndeni ukuqonda amalungu omndeni anezimpawu ezifanayo
• Ukuhlolwa kokuthuthuka nokufunda, ikakhulukazi kubantwana
• Ukubhekwa kokuphakama kwegazi
• Ukuhlolwa kwe-genetic uma ukuxilongwa kungacaci

Ngezinye izikhathi ukuhlolwa okwengeziwe njenge-MRI scans noma ukuhlolwa kwamehlo okukhethekile kudingeka ukuhlola ama-tumors angaphakathi noma ezinye izinkinga. Udokotela wakho uzochaza ukuthi yiziphi izivivinyo ezidingekayo sesimo sakho esithile.

Ukuhlolwa kwe-genetic kungaqinisekisa ukuxilongwa kodwa akuhlale kudingekile uma izici zezokwelapha zicacile. Ukuhlolwa kubheka izinguquko e-gene ye-NF1 futhi kungasiza ekwenzeni izinqumo zokuhlela umndeni.

Ukuphathwa kwe-Neurofibromatosis Uhlobo 1 kuyini?

Nakuba ayikho impumuzo ye-NF1, izindlela zokwelapha eziningi zingasiza ekuphathweni kwezimpawu nokuvimbela izinkinga. Umgomo ukukusiza uphile ngokugcwele nangokunethezeka ngangokunokwenzeka ngenkathi uqapha noma yiziphi izinguquko ezidinga ukunakekelwa.

Ukuphathwa kuyahlukahluka ngoba i-NF1 ithonya wonke umuntu ngokuhlukile. Iqembu lakho lokunakekelwa kwezokwelapha lizokwenza uhlelo olusekelwe ezimpawu zakho nezidingo zakho.

Izindlela zokwelapha ezivamile zihlanganisa:

• Ukuqapha okuvamile kokubhukha ukuqapha ukuthuthukiswa okusha
• Ukusekelwa kwezemfundo nokufunda okuhlanganisiwe
• Ukuphathwa kokuphakama kwegazi uma kudingeka
• I-Physical therapy yezinkinga zamagagasi noma zemisipha
• I-Speech therapy yezinkinga zokukhuluma
• Ukusekelwa kokwelapha kwezinkinga zengqondo nezenhlalo

Ngama-neurofibromas abangela izinkinga, ukususa ngokusebenza kungase kunconywe. Noma kunjalo, ama-neurofibromas amaningi awadingi ukwelashwa ngaphandle uma ebangela ubuhlungu, izinkinga zokusebenza, noma ukukhathazeka ngokubonakala.

Ukuphathwa okukhethekile kungabandakanya:

• Imithi ehloselwe izinhlobo ezithile zama-tumors
• Ukuhlinzwa kwe-Orthopedic ngezinkinga ezinzima zamagagasi
• I-Radiation therapy ezimweni ezingavamile (isetshenziswa ngokucophelela kakhulu)
• I-Vision therapy noma ukuhlinzwa ngezinkinga zamehlo
• Ukuphathwa kwemithi ngezikhathi zokukhathazeka noma ezinye izinkinga ze-neurological

Ukuphathwa okusha kuyaqhubeka kucwaningwa. Izivivinyo zezokwelapha zivivinya imithi engasiza ekuthambiseni ukukhula kwama-tumors noma ekuthuthukiseni ubunzima bokufunda obuhambisana ne-NF1.

Ungayiphatha kanjani i-Neurofibromatosis Uhlobo 1 ekhaya?

Ukuphila kahle ne-NF1 kubandakanya ukwenza izindlela zokuphila ezisekela impilo yakho yonke ngenkathi uqaphela izinguquko ezingase zidinga ukunakekelwa kwezokwelapha. Imikhuba yansuku zonke encane ingenza umehluko omkhulu endleleni ozizwa ngayo.

Gcina i-log elula yanoma yimaphi ama-bumps amasha esikhumba noma izinguquko ozibona. Thatha izithombe uma kuwusizo, futhi uqaphele ukuthi zivele nini. Lolu lwazi lusiza udokotela wakho ukuqapha intuthuko yesimo.

Izindlela zokuphatha zansuku zonke zihlanganisa:

• Ukuvikela isikhumba sakho ekukhanyeni kwelanga okukhulu
• Ukugcina ukudla okunempilo nomkhuba wokuzivocavoca njalo
• Ukuphatha ukucindezeleka ngezindlela zokupumula noma imisebenzi yokuphumula
• Ukuthola ukulala okwanele ukuze usekele impilo yonke
• Ukuthatha imithi eyalwe njalo
• Ukuxhumana nabangane nomndeni abasekelayo

Kubantwana abane-NF1, sebenzisana eduze nothisha ukuqinisekisa ukuthi ukusekelwa okufanele kokufunda kukhona. Abantwana abaningi bayazuza emaplanini emfundo ahlukile ahlangabezana nendlela yabo yokufunda nezidingo zabo.

Cabanga ukuxhumana namaqembu okusekela i-NF1, noma ngokomuntu siqu noma online. Ukukhuluma nabanye abaqonda lesi simo kungakunika iziphakamiso eziwusizo nokusekelwa ngokomzwelo.

Gcina ulwazi olubalulekile lokunakekelwa kwezokwelapha lufinyeleleka kalula, kufaka phakathi ukuxilongwa kwakho, imithi yakho yamanje, nolwazi loxhumano oluphuthumayo leqembu lakho lokunakekelwa kwezokwelapha.

Kufanele uzilungiselele kanjani ukubhukha kwakho nodokotela?

Ukulungiselela ukubhukha kwakho kwe-NF1 kusiza ekuqinisekiseni ukuthi uthola okuningi ngesikhathi sakho neqembu lakho lokunakekelwa kwezokwelapha. Ukulungiselela okuncane ngaphambili kungenza ukubhukha kube nomphumela futhi kungabi nakucindezeleka.

Bhala phansi noma yiziphi izimpawu ezintsha noma izinguquko ozibonile kusukela ekuhambeni kwakho kokugcina. Faka lapho zaqala khona, indlela eziye zashintsha ngayo, nokuthi yini ezenzayo ezenzayo ezingcono noma ezingabi bibi.

Letha lezi zinto ekuhambeni kwakho:

• Uhlu lwemithi yamanje nezinhlanganisela
• Izithombe zanoma yimaphi ama-bumps amasha noma ashintshayo esikhumba
• Amanothi mayelana nezimpawu noma ukukhathazeka
• Imibuzo ofuna ukuyibuza udokotela wakho
• Amakhadi yomshuwalense nokubonakala
• Imiphumela yokuhlolwa yangaphambili uma ubona udokotela omusha

Lungiselela imibuzo ethile mayelana nesimo sakho. Ngokwesibonelo, buza mayelana nokuthi nini kufanele uhlele izivivinyo zakho zokuhlola ezilandelayo, yiziphi izimpawu ezifanele zikhuthaze ukunakekelwa kwezokwelapha ngokushesha, noma yiziphi imisebenzi okufanele ivinjelwe.

Uma unezingane ezinene-NF1, letha imibiko yesikole noma ukuqaphela kothisha mayelana nokuhluka kokufunda noma ukuziphatha. Lolu lwazi lusiza odokotela ukuqonda ukuthi lesi simo singase sibe yini ethonya impilo yansuku zonke.

Cabanga ukuletha ilungu lomndeni noma umngane ukusekela, ikakhulukazi uma uxoxa ngezinqumo zokwelashwa noma uthola ulwazi olusha mayelana nesimo sakho.

Yini eyinhloko ebalulekile mayelana ne-Neurofibromatosis Uhlobo 1?

I-NF1 yisimo sezofuzo esiphatheka esithinta wonke umuntu ngokuhlukile. Nakuba idinga ukunakekelwa okuqhubekayo kwezokwelapha, abantu abaningi abane-NF1 bangaphila impilo egcwele, ephumelelayo ngokunakekelwa nokusekelwa okufanele.

Umgomo wokuphila kahle ne-NF1 ukuxhumana nabahlinzeki bezempilo abanolwazi abaqonda lesi simo. Ukubhekwa okuvamile kusiza ekutholeni izinkinga ezingaba khona kwasekuqaleni lapho ziphatheka kakhulu.

Khumbula ukuthi ukuba ne-NF1 akuchazi amandla akho noma ukulinganiselwa kwalokho ongakukwazi ukukufinyelela. Abantu abaningi abane-NF1 baphambili emisebenzini yabo, ubuhlobo, nemigomo yabo siqu ngenkathi baphatha lesi simo ngokuphumelelayo.

Ucwaningo luyaqhubeka luthuthukisa ukuqonda kwethu kwe-NF1 futhi luthuthukise ukwelashwa okungcono. Ukubuka kwabantu abane-NF1 kuyaqhubeka kuthuthuka njengoba ulwazi lwezokwelapha luthuthuka.

Imibuzo evamile ebuzwa mayelana ne-Neurofibromatosis Uhlobo 1

Q1: Ingabe ama-neurofibromas angaba umdlavuza?

Ama-neurofibromas amaningi ahlala engalimi (angumdlavuza) impilo yonke. Noma kunjalo, kunengozi encane yokuthi angathuthukisa ama-tumors angalimi ezinzwa ezingaphandle, okuthinta abantu abacishe babe yi-8-13% abane-NF1. Izibonakaliso zokubheka zihlanganisa ukukhula okusheshayo, ubuhlungu obusha, noma ukushintsha kokubunjwa kwama-neurofibromas akhona.

Q2: Ingabe izingane zami zizodlulisela i-NF1 uma nginayo?

Umnana ngamunye unethuba le-50% lokudlulisela i-NF1 uma omunye umzali enalesi simo. Lena ingozi efanayo yokuqala ngokuqala, kungakhathaliseki ukuthi unezingane ezingaki noma ubulili bazo. Ukwelulekwa kwe-genetic kungakusiza ukuqonda isimo sakho somndeni nezinketho.

Q3: Ingabe izimpawu ze-NF1 zingase zibe zimbi ngokuhamba kwesikhathi?

I-NF1 ivame ukuba yisimo esithuthukayo, okusho ukuthi izimpawu ezintsha zingase zithuthuke impilo yonke. Noma kunjalo, izinga nokuthuthuka kokuqhubeka kuyahlukahluka kakhulu phakathi kwabantu. Abanye abantu bahlangabezana nokuhluka okuncane, kuyilapho abanye bethuthukisa izici ezintsha ngokuhamba kwesikhathi. Ukubhekwa okuvamile kusiza ekuqondeni noma yiziphi izinguquko.

Q4: Ingabe kukhona ukulinganiselwa kokudla nge-NF1?

Awekho ukulinganiselwa kokudla okukhethekile kwe-NF1 ngokwayo. Noma kunjalo, ukugcina ukudla okunempilo, okulinganiselayo kusekela impilo yonke futhi kungasiza ekuphathweni kwezimo ezihlobene njengokuphakama kwegazi. Abanye abantu bathola ukuthi ukudla okuthile kuthonya amazinga abo kwamandla noma isimo sengqondo, kodwa lokhu kuyahlukahluka ngumuntu.

Q5: Ingabe abantu abane-NF1 bangabamba iqhaza ezemidlalo nasemisebenzini yomzimba?

Abantu abaningi abane-NF1 bangabamba iqhaza emisebenzini yansuku zonke yomzimba nezemidlalo. Noma kunjalo, imidlalo yokuxhumana ingase idingeke isondele ngokucophelela uma une-neurofibromas eminingi, njengoba ukwenzakala kungase kubangele izinkinga. Xoxa ngokukhetha kwemisebenzi nodokotela wakho ukuqinisekisa ukuthi zifanele isimo sakho esithile.