Ni iki Neurofibromatosis Type 1 ari? Ibimenyetso, Impamvu, n'Ubuvuzi

Neurofibromatosis type 1 (NF1) ni indwara ishingiye ku mpfuru z’umubiri zigira ingaruka ku mikurire y’uturemangingo tw’imikaya mu mubiri wawe wose. Iteza udukoko tudakomeye twitwa neurofibromas ku mikaya, kandi ikora ibimenyetso byihariye by’uruhu abaganga bashobora kumenya.

Abantu bagera kuri 1 kuri 3000 bavukana NF1, bigatuma iba imwe mu ndwara zikomoka ku mpfuru z’umubiri zikunze kugaragara. Nubwo izina rishobora gutera ubwoba, abantu benshi bafite NF1 babaho ubuzima buhamye, buzira umuze bafite ubuvuzi bukwiye no kugenzurwa.

Ni iki Neurofibromatosis Type 1 ari cyo?

NF1 ibaho iyo hari impinduka mu gene ya NF1, isanzwe ifasha kugenzura ukwaguka kw’uturemangingo. Iyo iyi gene itakoze neza, uturemangingo dushobora gukura mu buryo budakwiye, bigatuma haba ibimenyetso biranga iyi ndwara.

Iyi ndwara igira ingaruka ku mikaya, uruhu, n’amagufwa. Abantu benshi bafite NF1 bagira ibimenyetso byinshi bya café-au-lait (ibimenyetso by’amabara y’ikawa) n’udukombe duto, dutoroheye munsi y’uruhu twitwa neurofibromas.

NF1 ibaho kuva umuntu avutse, nubwo bimwe mu bimenyetso bishobora kutagaragara kugeza mu bwana cyangwa se mu bukure. Buri muntu ufite NF1 abona ingaruka zayo mu buryo butandukanye, ndetse no mu muryango umwe.

Ni ibihe bimenyetso bya Neurofibromatosis Type 1?

Ibimenyetso bya NF1 bishobora gutandukana cyane ukurikije umuntu, ariko hari ibimenyetso bisanzwe abaganga bashaka. Reka turebe icyo ushobora kubona, dutangiriye ku bimenyetso bikunze kugaragara.

Ibimenyetso bisanzwe birimo:

• Ibimenyetso bya café-au-lait - ibimenyetso by’uruhu bifite ibara ry’ikawa, bisanzwe bibaho kuva umuntu avutse
• Neurofibromas - udukoko dutoroheye, dufite ibara ry’umubiri, dukura ku mikaya munsi y’uruhu
• Udukombe mu myanya idasanzwe nko mu gituza, mu gitsina, cyangwa munsi y’amabere
• Lisch nodules - udukombe duto, tudakomeye, ku gice gifite ibara ry’amaso
• Ubusembwa mu kwiga cyangwa ibibazo byo kwitabira
• Ubunini bw’umutwe burebire ugereranije n’abandi
• Uburebure bugufi ugereranije n’abo mu muryango

Ibi bimenyetso bikunze kuza buhoro buhoro. Ibimenyetso bya café-au-lait bikunze kugaragara mbere, rimwe na rimwe mbere y’uko umuntu avuka, mu gihe neurofibromas isanzwe igaragara mu myaka y’ubwangavu cyangwa nyuma yaho.

Ibimenyetso bidakunze kugaragara ariko by’ingenzi birimo:

• Impinduka z’amagufwa cyangwa iterambere ry’amagufwa ritari ryo
• Umuvuduko w’amaraso uri hejuru mu bwana
• Imihindagurikire cyangwa ububabare bw’umutwe
• Ibibazo by’ububone cyangwa ibibazo by’amaso
• Scoliosis (umugongo w’igikombe)
• Gutinda kuvugira cyangwa ibibazo byo kuvugira

Bamwe mu bantu bagira ibibazo by’imibanire n’abantu n’ibibazo by’amarangamutima bifitanye isano n’ibimenyetso bigaragara cyangwa ibibazo byo kwiga. Ni ibintu bisanzwe kumva uhangayitse kubera izi mpinduka, kandi hari ubufasha buhari.

Ni iki giteza Neurofibromatosis Type 1?

NF1 iterwa n’impinduka (mutations) mu gene ya NF1, ikora nk’igifunga ku kwaguka kw’uturemangingo. Iyo iyi gene itakoze neza, uturemangingo dushobora gukura no kwiyongera mu gihe byagombye guhagarara.

Abantu bagera kuri ½ bafite NF1 barazikomora ku mubyeyi wabo ufite iyo ndwara. Niba umubyeyi umwe afite NF1, buri mwana afite amahirwe 50% yo kuyikomora - kimwe no gutera agapfumu.

Ikindi gice cy’abantu bafite NF1 nibo ba mbere mu muryango wabo bayifite. Ibi bibaho iyo impinduka nshya y’imfuru z’umubiri ibaye mu buryo butunguranye, ibyo bikaba ari ibintu bisanzwe kandi bitaterwa n’icyo ababyeyi bakoze cyangwa batakoze.

Iyo umaze kugira NF1, uzayigira ubuzima bwawe bwose, kandi ushobora kuyiha abana bawe. Ariko, kugira impinduka ya gene ntibigena uko iyi ndwara izakugiraho ingaruka.

Ni ryari ukwiye kujya kwa muganga kubera Neurofibromatosis Type 1?

Ukwiye gutekereza kujya kwa muganga niba ubona ibimenyetso byinshi bya café-au-lait kuri wowe cyangwa ku mwana wawe, cyane cyane niba hari ibimenyetso bitandatu cyangwa birenga birebire kurusha umugozi w’ikaramu. Ibi bimenyetso biranga ni byo abaganga bashaka mbere.

Ni ngombwa kandi gushaka ubuvuzi niba ugize udukoko dutashya munsi y’uruhu rwawe, ugira impinduka mu bubone, cyangwa ukabona ibibazo byo kwiga bitari bisanzwe mu muryango wawe. Kumenya hakiri kare bishobora gufasha mu micungire myiza no kugenzura.

Shaka ubuvuzi bw’ihutirwa niba ugize:

• Ububabare bukomeye bw’umutwe cyangwa impinduka mu buryo ububabare bw’umutwe bujya bugenda
• Ubusembwa bushya cyangwa kubabara mu maboko cyangwa mu maguru
• Ukwaguka kwihuta kwa neurofibromas zisanzweho
• Impinduka mu bubone cyangwa ububabare bw’amaso
• Imihindagurikire cyangwa guta ubwenge
• Ibimenyetso bikomeye by’umuvuduko w’amaraso uri hejuru

Ntugatege amatwi niba hari ikintu kibabaza cyangwa kitari cyo. Nubwo ibimenyetso byinshi bya NF1 biza buhoro buhoro, bimwe mu bibazo bikenera kwitabwaho vuba kugira ngo hirindwe ibibazo bikomeye.

Ni ibihe bintu byongera ibyago bya Neurofibromatosis Type 1?

Ikintu nyamukuru cyongera ibyago bya NF1 ni ukugira umubyeyi ufite iyo ndwara. Niba umwe mu babyeyi bawe afite NF1, ufite amahirwe 50% yo kuyikomora, uko ubaye ari wowe cyangwa ubaye ari umukobwa.

Ariko, amateka y’umuryango ntabwo buri gihe aba ari ikimenyetso. Abantu bagera kuri ½ bafite NF1 nibo ba mbere mu muryango wabo bayifite, kubera impinduka z’imfuru z’umubiri zishobora kuba kuri buri wese.

Nta bintu byo mu buzima, ibintu byo mu kirere, cyangwa imyitwarire y’umuntu byongera ibyago byo kurwara NF1. Iyi ndwara ibaho kimwe mu matsinda y’abantu bose kandi igira ingaruka ku bagabo n’abagore kimwe.

Kuba ababyeyi bakuze (cyane cyane abagabo barengeje imyaka 40) bishobora kongera gato ibyago by’impinduka z’imfuru z’umubiri ziba mu buryo butunguranye, ariko iyi mibanire iracyashakishwa kandi ibyago muri rusange biguma hasi.

Ni ibihe bibazo bishoboka bya Neurofibromatosis Type 1?

Nubwo abantu benshi bafite NF1 babaho ubuzima bwiza, ni ngombwa kumva ibibazo bishoboka kugira ngo ukorane n’itsinda ryawe ry’abaganga mu kubigenzura no kubicunga neza. Ibibazo byinshi birashobora gufatwa neza iyo bimenyekanye hakiri kare.

Ibibazo bikunze kugaragara birimo:

• Ibibazo byo kwiga bigira ingaruka ku bantu bagera kuri 50-60% bafite NF1
• Umuvuduko w’amaraso uri hejuru, ushobora kuza mu myaka yose
• Ibibazo by’amagufwa nka scoliosis cyangwa ukwaguka kw’amagufwa kutari ryo
• Ibibazo by’ububone harimo lazy eye cyangwa glaucoma
• Gutinda kuvugira no kumenya indimi mu bana
• Ibibazo by’imibanire n’abantu n’amarangamutima bifitanye isano n’uburyo umuntu asa

Ibi bibazo bikunze kuza buhoro buhoro kandi bishobora gufatwa neza hakoreshejwe ubuvuzi bukwiye n’ubufasha. Kugenzura buri gihe bifasha mu kumenya ibibazo hakiri kare igihe ubuvuzi bufite akamaro cyane.

Ibibazo bidakunze kugaragara ariko bikomeye birimo:

• Udukoko tw’imikaya mibi (cancer mu neurofibromas)
• Optic pathway gliomas (udukoko tugira ingaruka ku mikaya y’ububone)
• Pheochromocytoma (udukoko tugira ingaruka ku muvuduko w’amaraso)
• Gastrointestinal stromal tumors
• Ibibazo bikomeye by’amagufwa bigira ingaruka ku mikorere
• Moyamoya disease (ibibazo by’imitsi y’amaraso mu bwonko)

Nubwo ibi bibazo bikomeye bidakunze kugaragara, bigira ingaruka ku bantu batarengeje 10% bafite NF1, kugenzurwa n’abaganga buri gihe bifasha mu kubimenya hakiri kare. Itsinda ryawe ry’abaganga rizamenya ibimenyetso byo kwitondera n’igihe ibizamini byongeyeho bishobora kuba bikenewe.

Neurofibromatosis Type 1 imenyekana ite?

Kumenya NF1 bisanzwe bijyana no kumenya ibimenyetso byihariye aho kwishingikiriza ku kizami kimwe. Abaganga bakoresha ibipimo byashyizweho bishaka ibimenyetso byinshi by’iyi ndwara bigaragara hamwe.

Muganga wawe azakenera kubona nibura ibimenyetso bibiri muri ibi kugira ngo akore ubugenzuzi: ibimenyetso bitandatu cyangwa birenga bya café-au-lait, neurofibromas ebyiri cyangwa zirenze, udukombe mu myanya idasanzwe, Lisch nodules mu maso, udukoko two mu nzira y’ububone, impinduka z’amagufwa ziranga, cyangwa umuntu wo mu muryango wa hafi ufite NF1.

Uburyo bwo gupima busanzwe burimo:

• Isuzuma ry’umubiri ry’uruhu n’umubiri wawe
• Isuzuma ry’amaso kugira ngo harebwe Lisch nodules cyangwa ibibazo by’ububone
• Kureba amateka y’umuryango kugira ngo hamenyekane abantu bafite ibimenyetso bisa
• Isuzuma ry’iterambere n’ubumenyi, cyane cyane mu bana
• Kugenzura umuvuduko w’amaraso
• Ibizamini by’imfuru z’umubiri niba ubugenzuzi budasobanutse

Rimwe na rimwe, ibizamini byongeyeho nka MRI scans cyangwa ibizamini byihariye by’amaso bikenewe kugira ngo harebwe udukoko tw’imbere cyangwa ibindi bibazo. Muganga wawe azasobanura ibizamini bikenewe ku mimerere yawe.

Ibizamini by’imfuru z’umubiri bishobora kwemeza ubugenzuzi ariko ntibihora bikenewe niba ibimenyetso by’ubuvuzi bisobanutse. Iki kizami kireba impinduka mu gene ya NF1 kandi gishobora gufasha mu gufata ibyemezo byo kubyara.

Ni ubuhe buvuzi bwa Neurofibromatosis Type 1?

Nubwo nta muti uravura NF1, ubuvuzi bwinshi bushobora gufasha gucunga ibimenyetso no gukumira ibibazo. Intego ni ugufasha kubaho ubuzima buhamye kandi buzira umuze ukurikije uko ushoboye mu gihe ugenzura impinduka zikenera kwitabwaho.

Ubuvuzi bukorwa ukurikije umuntu kuko NF1 igira ingaruka kuri buri wese mu buryo butandukanye. Itsinda ryawe ry’abaganga rizategura gahunda ishingiye ku bimenyetso byawe n’ibyo ukeneye.

Uburyo busanzwe bwo kuvura burimo:

• Kugenzurwa buri gihe kugira ngo harebwe impinduka nshya
• Ubufasha mu burezi n’uburyo bwo kwiga
• Gucunga umuvuduko w’amaraso niba bikenewe
• Ubuvuzi bw’umubiri kubera ibibazo by’amagufwa cyangwa imikaya
• Ubuvuzi bw’imvugo kubera ibibazo byo kuvugira
• Ubufasha mu bijyanye n’imibanire n’abantu n’amarangamutima

Kubera neurofibromas ziteza ibibazo, gukuraho imikaya bishobora kugerwaho. Ariko, neurofibromas nyinshi ntizisaba ubuvuzi keretse ziteza ububabare, ibibazo by’imikorere, cyangwa ibibazo by’ubwiza.

Ubuvuzi bwihariye bushobora kuba burimo:

• Imiti iboneye ku bwoko bumwe bw’udukoko
• Ubuvuzi bw’amagufwa kubera ibibazo bikomeye by’amagufwa
• Ubuvuzi bwo kurasa mu bice bimwe na bimwe (bikoreshwa mu buryo buke cyane)
• Ubuvuzi bw’ububone cyangwa kubaga kubera ibibazo by’amaso
• Gucunga imiti kubera imihindagurikire cyangwa ibindi bibazo by’imikaya

Ubuvuzi bushya burakorwa buri gihe. Ibizamini by’ubuvuzi birimo kugerageza imiti ishobora gufasha kugabanya ukwaguka kw’udukoko cyangwa kunoza ibibazo byo kwiga bifitanye isano na NF1.

Uko wacunga Neurofibromatosis Type 1 murugo

Kubaho neza ufite NF1 bijyana no gushyiraho imikorere ishyigikira ubuzima bwawe muri rusange mu gihe ukomeza kwitondera impinduka zishobora kuba zikenera ubuvuzi. Imigenzo mito ya buri munsi ishobora kugira uruhare runini mu kuntu wumva.

Komeza kwandika udukoko tw’uruhu twashya cyangwa impinduka ubona. Fata amafoto niba bifasha, kandi bandika igihe byabaye. Aya makuru afasha muganga wawe gukurikirana iterambere ry’iyi ndwara.

Ingamba zo gucunga buri munsi harimo:

• Kurinda uruhu rwawe izuba ribi
• Kugira imirire myiza n’imyitozo ngororamubiri ya buri gihe
• Gucunga umunaniro binyuze mu buryo bwo kuruhuka cyangwa ibikorwa by’imyidagaduro
• Kuryama bihagije kugira ngo ushyigikire ubuzima bwawe muri rusange
• Kunywa imiti yanditswe buri gihe
• Kuguma ufite abantu bagushyigikiye mu nshuti n’umuryango

Kubana bafite NF1, korana n’abarimu kugira ngo ube wizeye ko ubufasha bukwiye mu burezi buhari. Abana benshi bagira inyungu mu buryo bwihariye bw’uburezi buhuza uburyo bwabo bw’imyigire n’ibyo bakeneye.

Tekereza kwifatanya n’amatsinda ashyigikira NF1, haba mu bantu cyangwa kuri internet. Kuganira n’abandi bumva iyi ndwara bishobora gutanga inama zifatika n’ubufasha mu bijyanye n’amarangamutima.

Komeza amakuru y’ubuvuzi y’ingenzi yoroshye kubona, harimo ubugenzuzi bwawe, imiti ukoresha ubu, n’amakuru y’ubufasha mu gihe cy’ubukomere kubera itsinda ryawe ry’abaganga.

Uko wakwitegura igihe ugiye kwa muganga

Kwitunganya mbere y’ibikorwa byawe bya NF1 bifasha kwemeza ko ubonye ibyiza byinshi mu gihe cyawe hamwe n’itsinda ryawe ry’abaganga. Gutegura gato mbere bishobora gutuma uruzinduko ruba rwiza kandi rudatwara umwanya munini.

Andika ibimenyetso bishya cyangwa impinduka wabonye kuva ku ruzinduko rwawe rwa nyuma. Harimo igihe byatangiye, uko byahindutse, niba hari ikintu kibikiza cyangwa kibitera.

Zana ibi bintu ku ruzinduko rwawe:

• Urutonde rw’imiti ukoresha ubu n’ibindi
• Amafoto y’udukombe tw’uruhu twashya cyangwa twahindutse
• Inyandiko z’ibimenyetso cyangwa impungenge
• Ibibazo ushaka kubabaza muganga wawe
• Amakuru y’ubwisungane n’ibyangombwa
• Ibisubizo by’ibizamini byabanje niba ubona muganga mushya

Tegura ibibazo byihariye ku ndwara yawe. Urugero, babaza igihe ukwiye guteganya ibizamini byawe byo kugenzura, ibimenyetso bikwiye gutuma uhabwa ubuvuzi bw’ihutirwa, cyangwa niba hari ibikorwa byo kwirinda.

Niba ufite abana bafite NF1, zana raporo zo ku ishuri cyangwa ibitekerezo by’abarimu ku bijyanye n’imyigire cyangwa impinduka mu myitwarire. Aya makuru afasha abaganga kumva uko iyi ndwara ishobora kugira ingaruka ku buzima bwa buri munsi.

Tekereza kuzana umuntu wo mu muryango cyangwa inshuti kugira ngo aguhe ubufasha, cyane cyane niba muganira ku byemezo by’ubuvuzi cyangwa wakiriye amakuru mashya ku ndwara yawe.

Icyo ugomba kumenya cyane kuri Neurofibromatosis Type 1

NF1 ni indwara ishingiye ku mpfuru z’umubiri ishobora gufatwa neza kandi igira ingaruka kuri buri wese mu buryo butandukanye. Nubwo isaba kwitabwaho n’abaganga buri gihe, abantu benshi bafite NF1 bashobora kubaho ubuzima buhamye, buzira umuze bafite ubuvuzi bukwiye n’ubufasha.

Ikintu nyamukuru cyo kubaho neza ufite NF1 ni ukuguma ufite abaganga bamenyereye iyi ndwara. Kugenzura buri gihe bifasha mu kumenya ibibazo bishoboka hakiri kare igihe bishobora kuvurwa.

Wibuke ko kugira NF1 ntibigena ubushobozi bwawe cyangwa ntibigabanye ibyo ushobora kugeraho. Abantu benshi bafite NF1 barushaho kuba indashyikirwa mu mirimo yabo, mu mibanire yabo, no mu ntego zabo bwite mu gihe bacunga iyi ndwara neza.

Ubushakashatsi burakomeza kunoza ubumenyi bwacu kuri NF1 no guteza imbere ubuvuzi bwiza. Ibintu byitezwe ku bantu bafite NF1 bikomeza kuba byiza uko ubumenyi bw’ubuvuzi bugenda butera imbere.

Ibibazo bikunze kubaho kuri Neurofibromatosis Type 1

Q1: Neurofibromas zishobora kuba kanseri?

Neurofibromas nyinshi ziguma ari nzima (zitari kanseri) mu buzima bwose. Ariko, hari ibyago bike byo kuba zahinduka udukoko tw’imikaya mibi, ibyo bikaba bigira ingaruka ku bantu bagera kuri 8-13% bafite NF1. Ibimenyetso byo kwitondera birimo ukwaguka kwihuta, ububabare bushya, cyangwa impinduka mu buryo neurofibromas zisanzweho zimeze.

Q2: Abana banjye bazakomora NF1 niba mfite?

Buri mwana afite amahirwe 50% yo gukomora NF1 niba umubyeyi umwe afite iyo ndwara. Ibi ni ibyago bimwe kuri buri gihe cyo gutwita, uko waba ufite abana benshi cyangwa igitsina cyabo.

Q3: Ibimenyetso bya NF1 bishobora kuba bibi uko igihe gihita?

NF1 isanzwe ari indwara itera imbere, bivuze ko ibimenyetso bishya bishobora kuza mu buzima bwose. Ariko, umuvuduko n’uburyo byo gutera imbere bitandukana cyane ukurikije abantu. Bamwe mu bantu bagira impinduka nke, mu gihe abandi bagira ibimenyetso bishya uko igihe gihita. Kugenzura buri gihe bifasha mu gukurikirana impinduka zose.

Q4: Hari imigenzo yo kurya idakwiye kuri NF1?

Nta migendekere yo kurya iburanya ku bijyanye na NF1 ubwayo. Ariko, kugira imirire myiza, yuzuye, ishyigikira imibereho myiza muri rusange kandi ishobora gufasha mu gucunga ibibazo bifitanye isano nka muvuduko w’amaraso uri hejuru. Bamwe mu bantu basanga ibiryo bimwe bigira ingaruka ku mbaraga zabo cyangwa ku marangamutima yabo, ariko ibi bitandukana ukurikije umuntu.

Q5: Abantu bafite NF1 bashobora gukina siporo n’imikino ngororamubiri?

Abantu benshi bafite NF1 bashobora gukora imikino ngororamubiri isanzwe n’imikino. Ariko, imikino ikomeye ishobora kuba ikenewe kwitonderwa niba ufite neurofibromas nyinshi, kuko gukomeretsa bishobora gutera ibibazo. Muganire n’umuganga wawe ku bijyanye n’imikino kugira ngo ube wizeye ko bikwiye ku mimerere yawe.