Ese ufite utudomo cyangwa ibibyimba bidasanzwe ku mubiri wawe? Reka tuvuge kuri Neurofibromatosis (NF)!

Ese ufite utudomo tw’ibara rya kawa ku ruhu rwawe ushobora kuba warabonye kuva ukiri umwana? Cyangwa rimwe na rimwe ugira utuntu duto, dufite ibibyimba bigaragara ahantu ku mubiri wawe? Wenda ibi si utudomo cyangwa ibibyimba gusa. Uyu munsi tugiye kuvuga ku ndwara ishobora kuba imeze ityo, kandi iragoye gato ariko irumvikana. Iyo ni Neurofibromatosis , cyangwa NF mu magambo ahinnye.

Neurofibromatosis (NF) ni iki?

Mu magambo make, Neurofibromatosis (NF) ni itsinda ry'indwara zigira ingaruka ku mitsi n'uturemangingo tw'umubiri wacu. Igira ingaruka ku bwonko bwacu, uruti rw'umugongo, imitsi n'uruhu. Ibimenyetso ubona bishobora gutandukana bitewe n'umuntu ku wundi, kandi biratandukanye bitewe n'ubwoko bwa NF ufite. Ariko ibimenyetso bikunze kugaragara ni ibibyimba byo kubyara n'ibibyimba akenshi bitari kanseri (bitari byiza). Ushobora kandi kuragwa iyo ndwara n'umuryango wawe, ari wo turemangingo twawe. Ariko igitangaje ni uko mu bantu bagera kuri 50%, ishobora kubaho ku buryo butunguranye, nta mateka y'umuryango.

Ni ubuhe bwoko bw'ingenzi bwa Neurofibromatosis (NF)?

Hari ubwoko butatu bw'ingenzi bw'izi NF. Reka turebe ibyo ari byo.

1. Ubwoko bwa Neurofibromatosis (NF1)

Ubu ni bwo bwoko bwa NF bukunze kugaragara cyane . Bubaho iyo:

• Uduce twa cafe au lait: Utwo duce dusa n'uduce dufite ibara ry'ikawa. Dushobora kugaragara ahantu hose ku mubiri.
• Neurofibromas: Utubyimba duto twibasira imitsi.
• Uduheri ku kwaha no mu kibuno: Dusa n'utudomo duto.
• Ibibyimba by'imitsi ifata amaso: Ibi bishobora kuvuka mu mitsi ihuza ijisho.
• Ubusembwa bw'amagufwa: Urugero, ibintu nka scoliosis.

Tekereza, hari umukobwa muto witwa Nimali. Ubwo yavukaga, yari afite utudomo twinshi tw’amata ku mubiri we. Uko yakuraga gato, utudomo duto twagaragaye ku kwaha kwe. Ni bwo yabyerekaga kwa muganga gusa yamenye ko afite NF1.

2. Schwannomatosis ifitanye isano na NF2 (yahoze yitwa Neurofibromatosis type 2 (NF2))

Ubu bwoko bubaho:

• Utunyangingo tw’imitsi dukura buhoro buhoro: Izi nazo zikora ku mitsi.
• Ubumuga bwo kutumva: Ubumuga bwo kutumva bushobora kubaho.
• Impinduka mu kureba: Ibintu nk'indwara ya cataract birashobora kubaho.
• Gucika intege cyangwa intege nke: Ushobora kumva amaguru n'amaboko yawe adafite imbaraga (peripheral neuropathy).

3. Schwannomatosis (SWN)

Ubu ni bwo bwoko budasanzwe . Hariho ubwoko butandukanye bw'ibi, bitewe n'impinduka mu miterere y'uturemangingo. Hari igihe nta bimenyetso na bike bishobora kubaho. Ariko iyo ibimenyetso bigaragaye, dore bimwe mu bintu bishobora kubaho:

• Ibibyimba by'imitsi bikura buhoro buhoro (Schwannomas):Ibi bishobora kubaho gusa ku gice kimwe cy'umubiri.
• Ububabare budakira.
• Kubura ibinure no kubyimba mu ntoki.

Neurofibromatosis (NF) ikunze kugaragara gute?

Mu buryo bugaragara, NF1 ingana na 96% by'abarwayi bose ba NF. Ibyo bivuze ko hafi umwana umwe mu bana 3.000 bavuka buri mwaka ku isi aba afite iyi ndwara. NF2 ingana na 3%, ni ukuvuga hafi umwana umwe mu bana 33.000 bavuka. Schwannomatosis (SWN) ntabwo ikunze kugaragara cyane, igaragara hafi 1%.

Ni ibihe bimenyetso bya Neurofibromatosis (NF)?

Nkuko twabivuze mbere, ibimenyetso biratandukanye bitewe n'ubwoko bwa NF. Hari abantu bashobora kutagira ibimenyetso na gato, mu gihe abandi bashobora kugira ibimenyetso bikomeye. Ariko, hari ibintu bibiri by'ingenzi bihuriweho n'ubwoko bwose uko ari butatu:

• Ibibyimba: Ibi ni utubyimba tw’imitsi dukora iyo uturemangingo twishyize hamwe. Ubwoko butandukanye bwa kanseri ya NF bugizwe n’ubwoko butandukanye bw’utubyimba. Ibi bibyimba akenshi bikura buhoro kandi ntabwo ari kanseri (ntibyiza) . Ariko, ni gake cyane, bimwe mu bibyimba bishobora guhinduka kanseri. Ibi bibyimba bikora ku mitsi byitwa Neurofibromas .

• Udukoko tw’uruhu: Ibi birimo ibibara by’amavuko, nk’udukoko twa café au lait twavuze mbere, hamwe n’udukoko tumera mu kwaha no mu nda. Hari igihe udusimba duto, tworoshye, duto nk’udukoko (neurofibromas zo mu rukenyerero) na two dushobora kumera ku ruhu.

Igikuru ni ukudatinya ko ufite indwara ya NF kubera gusa ko ufite ahantu habiri nk'aha. Ariko, niba ufite gushidikanya, ni byiza gushaka inama kwa muganga.

Uretse ibi bimenyetso by'ingenzi, hari n'ibindi bimenyetso bishobora kugaragara:

• Kubura amatwi cyangwa kureba neza.
• Indwara ya Scoliose.
• Intege nke z'imitsi.
• Kubabara cyangwa gucika intege mu ngingo.
• Kubabara umubiri no kubabara umutwe.
• Impinduka mu myitwarire, nko kubura ubushobozi bwo kwita ku bintu/indwara yo guhangayika cyane (ADHD).
• Ingorane zo kwiga.
• Indwara nk'iz'igicuri.

Umuntu urwaye Neurofibromatosis (NF) asa ate?

Ibi biratandukanye cyane bitewe n'umuntu ku giti cye. Hari abantu bashobora kubona utubyimba duto, tw’umuzenguruko (tungana na santimetero imwe y’ubugari, tungana n’ishaza) ku ruhu rwabo. Utu tubyimba ni neurofibroma. Hari abantu bashobora kuba bafite utubyimba turenze tubiri, cyangwa bashobora kuba bafite ikibyimba kinini (plexiform neurofibroma) kigizwe n’imitsi myinshi iri munsi y’uruhu.

Twavuze ku bibanza bya café au lait. Ibi bishobora kuba bitandukanye mu bunini no mu miterere, kuva ku bibara byoroheje, by'umukara woroheje kugeza ku bibara by'umukara wijimye. Ubusanzwe uzabona ibi bice bitandatu cyangwa birenga .

Ni ibisanzwe kugira ibizinga ku maso. Ariko muri NF, ibi bizinga bigaragara mu kwaha no mu kibuno.Izi ni zo zikunze kugaragara cyane. Zisa n'utudomo duto, dutukura nk'umukara.

Ibimenyetso bya Neurofibromatosis (NF) bigaragara ku kigero kingana iki?

Ibi kandi biratandukanye bitewe n'umuntu ku giti cye. Ibimenyetso bimwe na bimwe bishobora kugaragara mu gihe cyo kuvuka. Bimwe bishobora kugaragara uko ugenda ukura, mu gihe cy'ubugimbi cyangwa mu gihe cy'abantu bakuru. Urugero, neurofibromas zishobora kugaragara ku ruhu rw'abana bamwe na bamwe mu gihe cyo kuvuka. Ariko akenshi zigaragara mu gihe cy'ubugimbi. Uduheri twa café au lait dukunze kugaragara mu myaka ya mbere y'ubuzima bw'umwana. Uduheri ku kibuno no mu kwaha dushobora kugaragara hagati y'imyaka 3 na 5. Ibimenyetso bya schwannomatosis akenshi bitangira mu gihe cy'abantu bakuru, hafi y'imyaka 30.

Ni iki gitera Neurofibromatosis (NF)?

Impamvu nyamukuru ibi ni impinduka (mutation) mu ngirabuzimafatizo zacu . Reka turebe icyatera buri bwoko:

• Ubwoko bwa Neurofibromatosis (NF1): Dufite gene yitwa NF1 mu mubiri wacu. Iyi gene igenzura ikorwa rya poroteyine yitwa neurofibromin. Akamaro k'iyi poroteyine ni ukubuza iremwa ry'ibibyimba.
• Schwannomatosis/Neurofibromatosis type 2 (NF2) ifitanye isano na NF2: Ibi biterwa na gene yitwa NF2 (merlin) . Ibi kandi bigenzura indi poroteyine yitwa neurofibromin. Iyi poroteyine inagabanya ikorwa ry'ibibyimba.
• Schwannomatosis: Ibi bishobora guterwa n'impinduka mu turemangingo twa SMARCB1 cyangwa LZTR1 . Ariko, mu bihe byinshi, gene nyayo itera iyi ndwara ntishobora kumenyekana.

Mu magambo make, iyo hari impinduka muri buri jeni muri izi enye, poroteyine ntizihabwa amabwiriza akenewe kugira ngo zigenzure imikurire y'uturemangingo twacu. Icyo gihe ni bwo tumori dutangira kwirema mu mubiri.

Ushobora kuragwa NF1 cyangwa NF2 n'ababyeyi bawe, byitwa autosomal dominant pattern . Ibi bivuze ko ukeneye gusa kubona kopi ya gene yahinduwe n'umwe mu babyeyi bawe kugira ngo uyibone. Ariko, hafi kimwe cya kabiri cy'abantu bafite NF1 bayikuramo ku buryo butunguranye, nta mateka y'umuryango. Ibi bishobora no kubaho ku bantu bafite NF2. Hafi 85% by'abantu bafite schwannomatosis bakuramo iyo ndwara ku buryo butunguranye, nta mateka y'umuryango.

Ni ibihe bintu bishobora gutera Neurofibromatosis (NF)?

Iyi ndwara ishobora kugaragara ku muntu uwo ari we wese, ariko niba hari umuntu wo mu muryango wawe ufite imwe muri izi ndwara za NF, nawe ushobora kuyirwara.

Ni izihe ngorane zishobora guterwa na Neurofibromatosis (NF)?

Indwara ya NF ishobora gutera ingorane zimwe na zimwe. Zimwe muri zo ni izi:

• Kubura amatwi.
• Kugabanuka k'ubushobozi bwo kureba.
• Ububabare buhoraho.
• Ibibazo byo kwiga no kwitwara neza.
• Indwara z'umutima n'imitsi - urugero, umuvuduko ukabije w'amaraso, indwara z'umutima zavukanye.
• Ibibazo byo kwihesha agaciro biterwa n'indwara z'uruhu.
• Ingaruka zo kurwara kanseri ziruta iz’abaturage muri rusange, harimo kanseri y’ibere na kanseri y’imitsi yoroshye (sarcoma).

Icy'ingenzi: Ibyinshi mu bibyimba bya NF si kanseri. Ariko, ni gake cyane, bimwe mu bibyimba bya NF bishobora kuba kanseri. Kubwibyo, ni ngombwa cyane kwisuzumisha kwa muganga buri gihe.

Ni gute indwara ya Neurofibromatosis (NF) ipimwa?

Umuganga azagusuzuma kandi agukorere ibizamini bikenewe kugira ngo amenye indwara ya NF. Azabanza asuzume uruhu rwawe kugira ngo arebe ibimenyetso by'udukoko twa café au lait cyangwa neurofibromas. Azasuzuma kandi scoliosis, umuvuduko w'amaraso, kureba, no kumva. Azababaza kandi ubuzima bwawe n'amateka y'ubuzima bw'umuryango wawe. Niba rero uzi ko hari umuntu wo mu muryango wawe ufite NF, menya neza ko wabibwiye muganga wawe.

Ibipimo ngenderwaho byo gusuzuma buri bwoko bwa NF biratandukanye. Nubwo isuzuma rya muganga rishobora gutuma umuntu amenya ibimenyetso, ibizamini bimwe na bimwe bishobora gufasha kumenya impamvu y'ibimenyetso byawe. Ibizamini byo gufata amashusho, nka MRI, X-ray, cyangwa CT scan, bishobora kwerekana uburyo iyo ndwara yagize ingaruka ku mitsi yawe. Ibizamini byo gupima imiterere y'uturemangingo bishobora kandi gufasha kumenya impinduka mu turemangingo tw'uturemangingo zitera ibimenyetso byawe. Ariko, abaganga ntibaramenya imiterere yose itera iyo ndwara.

Hari igihe ibimenyetso bitamenyekana nyuma y'imyaka myinshi bigaragaye. Hari abantu babimenyeshwa bamaze gukura. Ibi biterwa nuko ibimenyetso bya NF bigenda bikura uko igihe kigenda, mu byiciro bitandukanye.

Ni ubuhe buryo bwo kuvura indwara ya Neurofibromatosis (NF)?

Ibi ni ingenzi cyane: Ubuvuzi bwawe bwa NF bugomba gukorwa buyobowe n'itsinda ry'abaganga b'inzobere mu barwayi ba NF . Iri tsinda risanzwe rigizwe na:

• Abaganga b'indwara z'imitsi n'uturemangingo.
• Abaganga b'imitsi.
• Abaganga b'indwara zo mu matwi, izuru n'umuhogo (abaganga b'indwara zo mu mutwe).
• Abaganga bashinzwe kubaga ibyuma bifasha mu kubaga.
• Abavuzi b'indwara zo mu mutwe.
• Abaganga b'amatwi.
• Abajyanama mu by'imiterere y'umubiri.

Nubwo nta muti uhari wa NF, hari intambwe nyinshi zatewe mu gusuzuma no kuvura ibibyimba bifitanye isano na NF. Muganga wawe azakwereka uburyo bwiza bwo kuvura indwara yawe.

Niba nta bimenyetso ufite, cyangwa ibimenyetso byawe bitabangamiye ubuzima bwawe bwa buri munsi, ushobora kudakenera ubuvuzi ubwo aribwo bwose. Muri icyo gihe, muganga wawe azagusaba kuza kwisuzumisha rimwe cyangwa kabiri mu mwaka kugira ngo akurikirane uko indwara igenda.

Muganga ashobora kukugira inama yo kuvura indwara nk'izi:

• Gukuraho ikibyimba:Kubagwa bishobora gukuraho ibibyimba ku ruhu n'ahandi mu mubiri.
• Imiti: Umuti wa selumetinib wemejwe n'Ikigo gishinzwe ibiribwa n'imiti muri Amerika (FDA) kugira ngo uhagarike gukura kw'uturemangingo twa kanseri mu bana bari hagati y'imyaka 2 na 18 bafite NF1 bafite ibibyimba bya plexiform neurofibroma bidashobora gukurwaho no kubagwa, cyangwa ibibyimba byabo byateje ubumuga cyangwa kwangirika kw'isura.
• Kubagwa kugira ngo hakosorwe ibibazo by’imikurire y’amagufwa: Niba ufite scoliosis cyangwa ibindi bibazo by’imikurire y’amagufwa, muganga wawe ashobora kukugira inama yo gusigwa icyuma gikingira amagufwa cyangwa, mu bihe bikomeye, akabagwa.
• Chimiotherapie: Ubu buryo butangwa ku bibyimba bibi. Chimiotherapie isenya uturemangingo twa kanseri.
• Ubuvuzi bushingiye ku mirasire: Ubuvuzi bushingiye ku mirasire bushobora gukoreshwa mu kugenzura ukwiyongera kwa kanseri muri kanseri nka kanseri y'ibere, kanseri y'imitsi yoroshye yitwa sarcoma, kanseri y'imitsi yo mu bwonko (MPNST), cyangwa glioma (ikibyimba cyo mu bwonko).

Niba kumva kwawe cyangwa kureba kwawe byagizweho ingaruka na NF, muganga wawe ashobora kukugira inama yo gukoresha ibikoresho bigufasha kumva nk'ibikoresho bigufasha kumva cyangwa indorerwamo zo gukosora.

Ese hari ingaruka mbi zikomoka ku buvuzi?

Uburyo bwose bwo kuvura bushobora kugira ingaruka mbi. Muganga wawe azabiganiraho nawe mbere yuko utangira kuvurwa.

Ingaruka mbi zishobora guterwa no kubagwa:

• Kuva amaraso.
• Kwandura indwara.
• Uturemangingo tw'ubwonko tugaruka nyuma yo gukurwaho.
• Kwangirika kw'imitsi.

Ingaruka mbi za chemotherapy:

• Umunaniro.
• Impiswi cyangwa impatwe.
• Gutakaza umusatsi.
• Ibiryo nta buryohe bwabyo.
• Isesemi no kuruka.

Imyaka yo kubaho k'umuntu urwaye Neurofibromatosis (NF) ni iyihe?

Ubusanzwe indwara ya Neurofibromatosis (NF) ntabwo igira ingaruka zikomeye ku mibereho yawe. Ariko, bitewe n'aho ibibyimba biherereye, bimwe mu bikorwa byawe bya buri munsi, nko kumva no kureba, bishobora kugorana gukora nta bufasha. Iyo bitavuwe, zimwe mu ngorane, nka kanseri, zishobora gushyira ubuzima mu kaga.

Ese indwara ya Neurofibromatosis (NF) ishobora kwirindwa?

Kugeza ubu nta buryo buzwi bwo kwirinda indwara ya NF. Niba uteganya gushinga umuryango, ni byiza kuvugana n'umujyanama mu by'imiterere y'umubiri kugira ngo umenye byinshi ku byago byo kubyara umwana ufite ikibazo cy'imiterere y'umubiri.

Ni ryari ngomba kujya kwa muganga?

Shaka muganga niba wowe cyangwa umwana wawe mubonye kimwe muri ibi bimenyetso bya NF ku ruhu rwe:

• Kugira ahantu hatandatu cyangwa arenga ho gukorera cafe au lait.
• Utubyimba tw'uruhu tugaragara nta mpamvu.
• Kugira utudomo mu kwaha cyangwa mu kibuno.

Ibindi bimenyetso bisaba kubonana na muganga:

• Impinduka mu kumva kwawe no/cyangwa kureba.
• Ububabare budafite impamvu.
• Intege nke z'imitsi.
• Kubabara cyangwa gucika intege mu ntoki no mu mano.

Niba ufite indwara ya NF, muganga wawe ashobora kukugira inama yo kuza kwisuzumisha buri gihe (ubusanzwe buri mezi 6 kugeza kuri 12) kugira ngo akurikirane ibimenyetso byawe. Menya neza ko wateganyije gahunda y'inyongera niba ugaragaje ibimenyetso bishya cyangwa niba ikimenyetso gisanzwe kirushijeho gukomera.

Ni ibihe bibazo ngomba kubaza muganga wanjye?

• Ni iki gitera ibimenyetso byanjye?
• Ni izihe ngorane zishobora guterwa n'abana banjye bo mu gihe kizaza kugira ngo bahabwe iyi ndwara?
• Ni ubuhe bwoko bw'ubuvuzi usaba?
• Ese hari ingaruka mbi zikomoka ku buvuzi?
• Ni kangahe nkwiye kuza gukora ibizamini byo gukurikirana?
• Ese hari igeragezwa ry'ubuvuzi nshobora kubona?
• Ese nkwiye kubonana n'inzobere mu bijyanye n'uburumbuke?

Neurofibromatosis ni indwara igira ingaruka ku mitsi n'uruhu rwawe. Ishobora kukugiraho ingaruka mu buryo butandukanye. Ushobora kugira ibimenyetso bibangamira imirimo yawe ya buri munsi, cyangwa se ntugire ibimenyetso na gato. Akenshi, bitewe n'uburyo ibimenyetso byawe bigenda bikura uko ugenda ukura, bishobora gufata imyaka myinshi kugira ngo umenye neza indwara. Iyo umaze kubona iyi ndwara, kumenya neza ibiri kuba bishobora kugufasha cyane. Itsinda ry'abaganga rishobora kugufasha kumenya byinshi ku buryo iyi ndwara ishobora kugira ingaruka kuri wewe ndetse no ku muryango wawe w'ejo hazaza. Nubwo nta muti uhari, hari uburyo bwo kuyivura.

Ikintu cy'ingenzi cyo kwibuka (Ubutumwa bwo kujyana mu rugo)

Neurofibromatosis (NF) si ikintu cyo gutinya, ahubwo ni ikintu cyo kumenya.

• Niba ufite utudomo tudasanzwe, ibibyimba ku ruhu rwawe, cyangwa utudomo twinshi mu kwaha/mu kibuno cyawe, gana muganga .
• Hari ubwoko butandukanye bwa NF, kandi ibimenyetso biratandukanye kuri buri kimwe.
• Iyi ni indwara iterwa n'uturemangingo, ariko ntabwo ihora igaragara mu miryango.
• Nubwo nta muti uhari, hari uburyo bwinshi bwo kuvura bufasha mu kurwanya ibimenyetso no kubaho neza .
• Ni ingenzi cyane kuvurwa uyobowe n'itsinda ry'abaganga b'inzobere.
• Ni ngombwa kwisuzumisha kwa muganga buri gihe no kuba maso ku bimenyetso bishya.

Niba ufite ikindi kibazo kuri ibi, ntutindiganye kuvugana na muganga wawe. Bazishimira kugufasha.

Neurofibromatosis , NF, ibibyimba by'imitsi, uduce twa café-au-lait, indwara z'uturemangingo, uduce tw'uruhu, uturemangingo tw'imitsi