Ese ufite uduheri ku ruhu rwawe cyangwa uduheri ku mubiri wawe? Ibi bishobora kuba indwara ya Neurofibromatosis yo mu bwoko bwa 1 (NF1)!

Uyu munsi tugiye kuvuga ku ndwara igoye gato, ariko ishobora kuba ingenzi ku bantu benshi. Mu magambo make tuyita Neurofibromatosis Type 1, cyangwa (NF1). Ushobora kuba utarayumva iri zina. Ariko reka tubiganireho mu buryo bworoshye, mu buryo ushobora kumva.

Neurofibromatosis Type 1 (NF1) ni iki?

Mu magambo make, (NF1) ni indwara igira ingaruka ku ruhu rwawe no ku mitsi (ni ukuvuga ubwonko bwawe , uruti rw'umugongo , n'indi mitsi yose). Iyi ni indwara ituma habaho impinduka nto mu mikurire y'uturemangingo tumwe na tumwe mu mubiri wacu. Ibi bituma habaho ibibyimba bitari kanseri (bitari byiza). Ibi byitwa neurofibromas . Ibi bibyimba bikora ku mitsi yo mu bwonko bwawe, uruti rw'umugongo, n'uruhu. Kimwe mu bimenyetso by'ingenzi bigaragara ku bantu barwaye (NF1) ni uko bafite utudomo twinshi twa café au lait ku ruhu rwabo. Iyi ndwara ishobora no kugira ingaruka ku maso no ku magufwa. Hari igihe abaganga bayita indwara ya Von Recklinghausen, ushobora kuba warumvise.

Neurofibromatosis Type 1 (NF1) ikunze kugaragara gute?

Ubu ni bwo bwoko bukunze kugaragara bwa neurofibromatosis. Mu by’ukuri, 96% by’abarwayi bose ba neurofibromatosis bafite NF1. Ku isi yose, bivugwa ko hafi umwana umwe kuri buri 3.000 avuka buri mwaka afite NF1.

Ni ibihe bimenyetso bya NF1?

Ibimenyetso bya (NF1) ahanini biterwa no gukanda imitsi. Reba niba ibi bimenyetso bisa n'ibisanzwe kuri wewe:

• Uduce turenga tutandatu twa café au lait: Utwo duce tugaragara nk'uduce duto, tw'umukara woroshye cyangwa uw'umukara wijimye ku ruhu, nk'udusimba tw'amavuko .
• Udusimba tw’ubwonko duto cyangwa twinshi munsi y’uruhu: Ibi bibyimba bishobora kumera ahantu hose ku mubiri. Bishobora kuba bito nk’udusimba tw’ishaza cyangwa binini. Bishobora kuba byoroshye ubikozeho cyangwa bikomeye gato. Akenshi, uruhu rukikije ibi bibyimba rwirabura kurusha ibara ry’uruhu rwawe risanzwe.
• Bisa n'utudomo duto (uduheri) ku kwaha, mu kibuno, ndetse rimwe na rimwe munsi y'amabere.
• Kurema utubyimba duto (Lisch nodules ) mu mboni y'amaso cyangwa mu tubyimba tw'imitsi y'amaso (glioma y'amaso) bityo bigatuma habaho kutabona neza.
• Utumenyero duto mu mikurire y'amagufwa:Urugero, hashobora kubaho ibintu nka scoliosis cyangwa amagufwa y'amaguru yunamye, umutwe munini kuruta ibisanzwe (macrocephaly), n'uburebure bugufi.
• Indwara yo kudasobanukirwa neza/ gukora cyane ( ADHD ) .
• Kubabara ahantu ibibyimba byatangiriye, kugorwa no kugenda, no kugorwa no gukora neza mu ngingo zibishinzwe.

Ibi bimenyetso bishobora kuba byoroshye cyane kuri bamwe, kandi bishobora kugira ingaruka ku bandi cyane. Nanone, si ko ibi bimenyetso byose bibaho kuva umuntu avutse. Bigaragara mu bihe bitandukanye mu buzima bwe bwose. Kubwibyo, uburyo bigira ingaruka kuri buri muntu buratandukanye.

Ni iki gitera Neurofibromatosis Type 1 (NF1)?

Impamvu nyamukuru ya NF1 ni impinduka muri imwe mu ngirabuzimafatizo zacu, yitwa mutation. Iyi ngirabuzimafatizo yitwa Neurofibromin 1 gene. Iyi ngirabuzimafatizo ya Neurofibromin 1 ibwira umubiri wacu gukora poroteyine yitwa neurofibromin. Iyi poroteyine ni ingenzi cyane kuko igenzura inshuro uturemangingo twigabanyamo ibice n'ingano y'uko dukora kopi. Mu by'ukuri, iyi ni poroteyine ibuza ibibyimba kubaho (tumor suppressor) .

Rero, iyo umubiri utabonye amabwiriza akwiye yo gukora iyi poroteyine ya neurofibromine, hari uturemangingo tudacikamo ibice neza ngo twibagirwe. Ahubwo, dukora kopi nyinshi kuruta izo dukeneye. Ni bwo tumori ivuka. Ikibyimba ni igice kinini cy'uturemangingo gikorwa n'uturemangingo twinshi tudasanzwe.

Ushobora kuragwa iyi gene mutation uvuye ku mubyeyi wawe. Ibi byitwa autosomal dominant pattern of inheritance . Ariko, ushobora kugira iyi gene mutation nubwo nta muntu wo mu muryango wawe ufite iyo ndwara. Hafi kimwe cya kabiri cy'abantu bafite NF1 bayikuramo mu buryo butunguranye. Ibi bivuze ko iyo gene mutation ibaho ku bw'amahirwe kandi ntabwo iragwa n'umuntu uwo ari we wese.

Ni izihe ngorane zishobora guterwa na Neurofibromatosis Type 1 (NF1)?

(NF1) ishobora gutera ingorane zimwe na zimwe. Dore zimwe muri zo:

• Ushobora gutakaza ubushobozi bwo kubona.
• Kuvunika cyangwa kutagira imikorere myiza mu mikurire y'amagufwa (dysplasia) bishobora kubaho.
• Imitsi ishobora kwangirika.
• Umuvuduko ukabije w'amaraso (hypertension) ushobora kubaho.
• Ndetse na nyuma yo kuvurwa no gukurwaho, ibibyimba bishobora kongera kugaruka.
• Kwiyubaha bishobora kugabanuka.

Icy'ingenzi kurushaho, zimwe mu ndwara zifata NF1 ni kanseri.Hari amahirwe ko bishobora guteza ikibazo. Kubwibyo, ni ngombwa cyane kwitonda kuri ibi.

Ni gute NF1 ipimwa?

Umuganga azagusuzuma kandi agukorere ibizamini bikenewe kugira ngo amenye niba ufite NF1. Azabanza agukorere isuzuma ry’umubiri, abaza ibimenyetso byawe, hanyuma amenye uko bikugiraho ingaruka.

Byongeye kandi, ushobora no gukora ibizamini nk'ibi:

• Ibizamini byo gufata amashusho: Urugero, MRI, X-ray, cyangwa CT scan.
• Gupima imiterere y'uturemangingo.
• Isuzuma ry'amaso.

Abantu benshi bafatwa na NF1 iyo bageze mu za bukuru. Ibi biterwa nuko ibimenyetso bitagaragara icyarimwe, ariko bigenda bikura buhoro buhoro uko igihe kigenda gihita. Urugero, ushobora kugira uduce twa café au lait igihe uvuka, cyangwa tukagaragara mu myaka mike ya mbere. Ariko, bishobora gufata imyaka 3-5 kugira ngo uduce duto tugaragare mu kwaha no mu kibuno. Neurofibromas ni ubwoko bw'ikibyimba gikunze kugaragara iyo bageze mu za bukuru. Akenshi, abantu bagana kwa muganga kugira ngo bahindure amaso.

Ni gute indwara ya Neurofibromatosis yo mu bwoko bwa 1 (NF1) ivurwa?

Kugeza ubu nta muti w’iyi ndwara (NF1). Ariko, muganga ashobora kugufasha kwihanganira ibimenyetso byawe. Uburyo bwo kuvura buratandukanye bitewe n’uko ibimenyetso byawe bikugiraho ingaruka. Dore bumwe mu buryo bwo kuvura buhari:

• Kubaga gukuraho ikibyimba.
• Chimiotherapie ni uburyo bwo kuvura ibibyimba byahindutse kanseri.
• Ibintu nko kubagwa cyangwa gukingira indwara z’imitsi.
• Imiti yo kugenzura ikura rya kanseri: Urugero, umuti witwa selumetinib.
• Imiti yo kugenzura ibindi bimenyetso: Urugero, imiti ivura ADHD.

Niba ufite NF1, ni ngombwa kujya kwa muganga nibura rimwe mu mwaka kugira ngo agupime byuzuye. Ugomba kandi gupimwa amaso buri mwaka. Byongeye kandi, ni ngombwa cyane ko upimwa umuvuduko w'amaraso nibura rimwe mu mwaka kugira ngo urebe niba nta ngorane ufite.

Ese nawe ukeneye gutekereza ku buzima bwo mu mutwe?

Yego rwose. Ni ibisanzwe ko iyi ndwara ikugiraho ingaruka mu buryo bw'amarangamutima. Abantu benshi babona ihumure iyo baganiriye n'inzobere mu by'ubuzima bwo mu mutwe . Cyangwa, kujya mu itsinda ry'abaterankunga aho abantu bafite uburwayi nk'ubwo bateranira nabyo bishobora gufasha cyane. Kuko rimwe na rimwe, iyo ibi bimera n'utudomo bigaragara ahantu abandi babona, ushobora kumva uhangayitse ku isura yawe. Kubwibyo, ni byiza cyane kuvugana na muganga cyangwa umujyanama mu by'ubuzima bwo mu mutwe ku bintu nk'ibi.

Ese hari ingaruka mbi zikomoka ku buvuzi?

Yego, ingaruka mbi zishobora gutandukana bitewe n'ubwoko bw'ubuvuzi. Muganga wawe azagusobanurira mbere yuko utangira kuvurwa. Urugero, niba ugiye kubagwa, ushobora kuva amaraso no kwandura. Niba ugiye gufata imiti igabanya ubukana bw'imitsi, ushobora gutakaza umusatsi no kunanirwa.

Ese indwara ya Neurofibromatosis yo mu bwoko bwa 1 (NF1) ishobora kwirindwa?

Ubu nta buryo buzwi bwo kwirinda NF1. Ariko, niba uteganya gushinga umuryango, ni ukuvuga niba wifuza kubyara umwana, ushobora kuvugana na muganga akabaza ibijyanye n'ubujyanama mu by'imiterere y'umubiri . Ibi bishobora kuguha ubumenyi bwiza ku mahirwe yo kubyara umwana ufite indwara y'imiterere y'umubiri nka NF1.

Icyizere cy'ubuzima bw'umuntu urwaye NF1 ni ikihe?

Ubusanzwe, iyo ibimenyetso byawe bidakabije, NF1 ntabwo igira ingaruka ku mibereho yawe. Abantu benshi babaho mu buryo busanzwe. Ariko, iyo habayeho ingorane (nubwo zidakunze kubaho), cyane cyane iyo hari ibibyimba byinshi ku buryo bitashobora gukurwaho neza binyuze mu kubagwa, cyangwa iyo ibibyimba bihindutse kanseri, bishobora kugira ingaruka ku mibereho yawe (prognosis).

Ni iki wakwitega uramutse umenye ko ufite NF1?

(NF1) ni indwara igira ingaruka ku bantu mu buryo butandukanye. Hari abantu bashobora kutagira ibimenyetso bikomeye bihagije ku buryo byabangamira imirimo ya buri munsi. Abandi bashobora kugira ibibazo byo kutabona cyangwa ububabare butuma bigorana kugenda.

Abantu benshi basanga ari ingirakamaro kuvugana n'inzobere mu by'ubuzima bwo mu mutwe iyo ibimenyetso byabo bigira ingaruka ku buzima bwabo bwo mu mutwe n'uburyo batekereza ku mibiri yabo. Kubera ko ibi bimera, nk'ibisebe n'ibibara by'amavuko, rimwe na rimwe bishobora kugaragara ku bandi, ushobora kumva ufite isoni cyangwa ufite isoni zo kugaragara kwawe. Muganga ashobora kugufasha guhangana n'ibyo byiyumvo n'ibimenyetso byose bigutera kumererwa nabi.

Ni ryari ngomba kujya kwa muganga?

Niba ufite ibimenyetso bya NF1, cyane cyane utudomo turenga dutandatu twa café au lait, impinduka zidasobanutse z'uruhu, cyangwa impinduka mu maso, jya kwa muganga ako kanya. Niba usanzwe uvurwa NF1, bwira muganga wawe niba ibimenyetso, nk'ububabare, byiyongera cyangwa birushaho kwiyongera.

Byongeye kandi, ni ngombwa kwipimisha kwa muganga nibura rimwe mu mwaka . Ibi bishobora gufasha kwemeza ko ibice bikurikira by'umubiri wawe bishobora kwangizwa na NF1 bikora neza:

• Amaso
• Udutsinga tw'imitsi
• Uruhu
• Umutima n'imitsi
• Umugongo

Ni ibihe bibazo ngomba kubaza muganga wanjye?

Iyo ugiye kwa muganga, ushobora kubaza ibibazo nk'ibi:

• Ni iki nkwiye kwitega mu gihe nasuzumwe indwara ya (NF1)?
• Ese abana banjye b'ejo hazaza bashobora kuragwa iyi ndwara?
• Ni ubuhe buryo bwo kuvura usaba? Ese hari ingaruka mbi?
• Ese ibibyimba bishobora kongera gukura nyuma yo gukurwaho?
• Ni kangahe ngomba kugaruka mu gihe cyo gukurikirana?

Amaherezo, ibintu byo kwibuka (Ubutumwa bwo kujyana mu rugo)

Ubwoko bwa Neurofibromatosis (NF1) ni bwo bwoko bukunze kugaragara bwa neurofibromatosis. Bushobora kugira ingaruka ku bice byinshi by'umubiri wawe, cyane cyane uruhu rwawe n'imitsi. Ibimenyetso byawe bishobora kugira ingaruka ku buzima bwawe bwa buri munsi ndetse n'uko wumva umubiri wawe. Ariko ntugahangayike. Itsinda ry'abaganga rishobora kugufasha kubona uburyo bwiza bwo kuvura indwara yawe. Niba ibimenyetso byawe bigira ingaruka ku kwiyubaha kwawe, ushobora gusanga ari byiza kuvugana n'umujyanama w'ubuzima bwo mu mutwe . Niba uzi ko ufite NF1 kandi ukaba uteganya gushinga umuryango, ntukibagirwe kuvugana na muganga wawe ku birebana n'ubujyanama mu by'uturemangingo.

Ntabwo uri wenyine, hari abantu benshi bazagufasha muri uru rugendo.