Ngaba ukhe waphawula amabala amaninzi amdaka eluswini lwakho, okanye emzimbeni womntwana wakho? Mhlawumbi ubona amaqhuma amancinci phantsi kolusu? Nangona abantu abaninzi becinga ukuba la maqhuma aqhelekileyo, ngamanye amaxesha anokuba ziimpawu zesifo semfuza esibizwa ngokuba yi-'Neurofibromatosis Type 1', okanye i-NF1 ngamafutshane. Ungakhathazeki, nangona igama livakala lisoyikisa, yimeko elawulekayo. Namhlanje, siza kuthetha ngayo yonke le nto ngendlela elula neqondakala lula.
Kalula nje, yintoni i-NF1?
I-NF1 yimeko yemfuza. Ichaphazela kakhulu ulusu lwethu kunye nenkqubo yemithambo-luvo (oko kukuthi, ingqondo, umqolo, kunye nemithambo-luvo emzimbeni wonke). Ibangela utshintsho oluncinci kwinkqubo elawula ukukhula kweeseli emzimbeni wethu. Cinga ngayo 'njengeswitshi' emzimbeni wethu elawula ukwahlulwahlulwa kweeseli. Umntu one-NF1 unesiphako esincinci kule switshi. Ngenxa yoko, ezinye iiseli ziyahlukana ngokukhawuleza kwaye zenze amathumba.
Ezi thumba zihlala zikhula kwimithambo-luvo. Yiyo loo nto sizibiza ngokuba zii-neurofibromas . Into ebalulekileyo kukuba uninzi lwale mithambo-luvo ayinobungozi . Oko kuthetha ukuba ayingomhlaza. Ezi thumba zinokukhula kwimithambo-luvo engqondweni, emgogodleni, nakulusu. Usenokuba ukhe weva ugqirha wakho esithi le meko "yisifo sikaVon Recklinghausen." Lelo ligama elinye lalo.
Ixhaphake kangakanani i-NF1?
I-NF1 lolona hlobo luqhelekileyo lwe-neurofibromatosis. Kubikwa ukuba ama-96% abo bonke abaguli awela kolu hlobo. Ehlabathini lonke, kuqikelelwa ukuba malunga ne-3,000 yeentsana ezisandul’ ukuzalwa inokuba ne-NF1. Oku kuthetha ukuba ayisiyongxaki ingaqhelekanga.
Ziziphi iimpawu eziphambili ze-NF1?
Iimpawu ze-NF1 zibangelwa ziithumba esithethe ngazo ngaphambili, ezicinezela imithambo-luvo. Kodwa ayinguye wonke umntu oneempawu ezifanayo. Abanye abantu baneempawu ezimbalwa kakhulu, ngelixa abanye banokuchaphazeleka ngakumbi. Makhe sijonge iimpawu eziphambili.
| Uphawu | Ingcaciso elula |
|---|---|
| Iindawo zeCafe au lait | Ezi zifana nombala omdaka okhanyayo ovela ekofini yakho xa wongeza ubisi oluncinci. Ziluhlobo lwebala elithe tyaba elukhumbeni. Ukuze kufunyaniswe ukuba unayo, ukuba namabala angaphezu kwamathandathu kudla ngokuthathwa njengento ebalulekileyo. |
| Ii-Neurofibromas | Iithumba zemithambo-luvo ezikhula phantsi kolusu. Ezi zinokuvela naphi na emzimbeni. Ezinye zincinci njengeepizi, ngelixa ezinye zinkulu. Zinokuba thambile xa uzichukumisa okanye ziqine kancinci. |
| Amachaphaza emakhwapheni nasemagxeni | Uphawu olwahlukileyo lwesi sifo kukuvela kwamabala amancinci (amabala) emakhwapheni, emqolo, kwaye ngamanye amaxesha phantsi kwamabele abafazi. |
| Utshintsho emehlweni | Amaqhuma amancinci amdaka (ii-nodules zeLisch) anokuvela kwi-iris yeliso. Kwakhona, iithumba (ii-optic gliomas) zinokuvela kwimithambo-luvo edibanisa iliso nengqondo. Oku kunokubangela iingxaki zokubona. |
| Iingxaki zamathambo | Izinto ezifana ne-scoliosis, imilenze egobileyo, intloko enkulu kuneqhelekileyo (i-macrocephaly), kunye nobude obufutshane zinokubonakala. |
| Iingxaki zokuqwalaselwa | Abanye abantwana kunye nabantu abadala banokuba neemeko ezifana nesifo sokungakwazi ukugxila kakhulu (ADHD). |
| Intlungu | Kwiindawo apho kuye kwavela khona iithumba, zinokubangela iintlungu ngenxa yokucinezelwa kwemithambo-luvo. Zinokuchaphazela nokusebenza kwamanye amalungu omzimba. |
Into ebalulekileyo kukuba azikho zonke ezi mpawu ezenzeka kumntu omnye. Kwaye azikho zonke ezibonakala ekuzalweni. Ezinye zeempawu ziqala ukubonakala xa umntu ekhula.
Yintoni ebangela i-NF1?
Oku kubangelwa lutshintsho oluncinci kakhulu kwiijini zethu. Ngokuchanekileyo, lutshintsho kwijini ebizwa ngokuba yi-`neurofibromin 1`. Le jini iyalela imizimba yethu ukuba yenze iproteni ebizwa ngokuba yi-`neurofibromin`. Le protein ifana ne-`brake` elawula isantya apho iiseli emzimbeni wethu zahlukana khona. Sikwabiza oku ngokuthi `(i-tumor suppressor)`.
Kwi-NF1, ngenxa yempazamo kwimiyalelo kule gene, iproteni ye-neurofibromin ayiveliswanga kakuhle. Oku kuthetha ukuba 'i-brake' ayisebenzi kakuhle. Ngenxa yoko, ezinye iiseli ziyahlukana ngokungalawulekiyo kwaye zenze ii-tumor.
Kukho iindlela ezimbini olu tshintsho lwemfuza olunokwenzeka ngazo:
1. Ilifa elivela kubazali: Ukuba omnye umzali une-NF1, umntwana unethuba elingama-50% lokufumana esi sifo.
2. Ukwenzeka ngokungacwangciswanga: Malunga nesiqingatha sezigulane ze-NF1 azinambali yosapho. Oku kuthetha ukuba nokuba abazali abanayo le meko, utshintsho lunokwenzeka ngokungacwangciswanga ngexesha lokuveliswa kwezakhi zofuzo emzimbeni womntwana.
Ziziphi iingxaki ezinokubakho ze-NF1?
Nangona uninzi lwabantu lungabi neengxaki ezinkulu, oku kulandelayo ngamanye amaxesha kunokwenzeka:
- Ukulahlekelwa ngumbono (ngenxa yeethumba ze-optic glioma)
- Ukuqhekeka okanye ukukhubazeka kwamathambo
- Umonakalo wemithambo-luvo
- Uxinzelelo lwegazi oluphezulu (uxinzelelo lwegazi oluphezulu)
- Ukuphinda kwethumba nokuba emva konyango
- Ukungazithembi ngenxa yokukhathazeka ngenkangeleko yomntu
Nangona ezi thumba zihlala zingengomhlaza, kunqabile ukuba ezinye ii-neurofibromas zibe ngumhlaza. Yiyo loo nto kubalulekile ukuba uhlolwe ngugqirha wakho rhoqo.
Ifunyaniswa njani i-NF1?
Ugqirha uza kuqala akuhlole ukuze afumane umbono wesifo. Ugqirha uza kuhlola ulusu lwakho ngononophelo ukuze abone amabala, amaqhuma, njl. Ukongeza, banokwenza uvavanyo ukuqinisekisa ukuba unesifo.
- Uvavanyo lokufota: Uvavanyo olufana `(MRI)`, `(X-ray)` okanye `(CT scan)` ukuze kubonwe ukuba kukho iithumba emzimbeni.
- Uvavanyo lwemfuza: Uvavanyo lwegazi ukuqinisekisa ukuba kukho utshintsho kwimfuza ye-`NF1`.
- Ukuhlolwa kwamehlo: Ukuhlolwa kwamehlo akho yingcali ukuze kuhlolwe amaqhuqhuva eLisch.
Esi sifo sidla ngokufunyaniswa xa umntu emdala. Oku kungenxa yokuba, njengoko besitshilo ngaphambili, ezinye iimpawu (umzekelo, amaqhuma angaphantsi kolusu) ziqala ukubonakala xa umntu ekhula.
Ziziphi iindlela zonyango ze-NF1?
Eyona nto ibalulekileyo ekufuneka uyithethe kuqala kukuba,Akukho nyango lwe-NF1 okwangoku. Kodwa ungoyiki. Kukho unyango oluninzi olunokukunceda ulawule iimpawu zakho kwaye uphile ubomi obunempumelelo nobanelisayo. Unyango luxhomekeke kuhlobo lweempawu onazo.
- Utyando: Iithumba ezibuhlungu, ezicinezela imithambo-luvo, okanye eziphazamisa inkangeleko zinokususwa ngotyando.
- Unyango lomhlaza: Ukuba ithumba liba ngumhlaza, unyango olufana ne-"chemotherapy" luyanikwa.
- Unyango lwamathambo: Utyando okanye izixhobo zokubopha zisetyenziselwa izinto ezifana nokudibanisa umqolo.
- Amayeza: Ngoku kukho amayeza athile, afana ne-selumetinib, okulawula ukukhula kwethumba. Amayeza akwasetyenziswa ukunyanga izifo ezifana ne-ADHD.
Ukubaluleka kokuhlolwa rhoqo kwezonyango
Kubalulekile ukuba abantu abane-NF1 babone ugqirha ubuncinane kanye ngonyaka ukuze bahlolwe ngokupheleleyo. Kufuneka bahlolwe amehlo abo kunye noxinzelelo lwegazi rhoqo ngonyaka. Oku kuya kubanceda babone naziphi na iingxaki ezintsha kwangethuba baze baqale unyango.
Ufanele uye nini kugqirha?
Ukuba ukrokrela ukuba wena okanye umntwana wakho uneempawu ze-NF1, ingakumbi ukuba uqaphela oku kulandelayo, qiniseka ukuba ubona ugqirha.
- Ukuba neendawo ezingaphezu kwesithandathu ezinombala wekofu (cafe-au-lait).
- Ulusu luyatshintsha okanye lunamaqhuma ngaphandle kwesizathu.
- Utshintsho kwimbono.
Ukuba sele usaziwa ukuba une-NF1, ukuba ufumana iintlungu ezikhulayo, ukukhula ngokukhawuleza kweethumba, okanye iimpawu ezintsha, yazisa ugqirha wakho ngoko nangoko.
Umyalezo Wokuya Ekhaya
- I-NF1 yimeko yemfuza ebangela ukuba kubekho izilonda zesikhumba kunye neethumba kwimithambo-luvo. Uninzi lwale mithambo-luvo ayingomhlaza.
- Le meko inokuthi ifunyanwe ngabazali, okanye ingenzeka ngengozi ngaphandle kokuba kubekho mntu kusapho.
- Iimpawu zahluka kakhulu kumntu nomntu. Kwakhona, azibonakali zonke iimpawu ngaxeshanye, kodwa ziyavela ngokuhamba kwexesha.
- Nangona i-NF1 ingenakunyangwa ngokupheleleyo, kukho unyango oluninzi olunokunceda ukulawula iimpawu kwaye lukuvumele ukuba uphile ubomi obulungileyo. Ukuhlolwa kwezonyango konyaka kubaluleke kakhulu.
- Kuqhelekile ukuba uzive ungakhululekanga kwaye ulusizi malunga neethegi zesikhumba kunye namaqhuma. Ungaze ungathandabuzi ukuthetha nogqirha wakho okanye nomcebisi wezempilo yengqondo ngale nto.
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