Marfan Syndrome n'Umutima Wawe: Reka Tuganire kuri Ibi!

Ushobora kuba warabonye abantu barebare cyane, bafite amaguru maremare, kandi bananutse kurusha abandi. Buri wese afite iyi ndwara, ariko si indwara. Ariko rimwe na rimwe, ubwoko bw'imiterere y'umubiri bushobora kuba ikimenyetso cy'indwara ya gene yitwa Marfan Syndrome . Iyi ni indwara ibaho iyo ingingo zihuza umubiri wacu zidakura neza. Muri make, iyi ngingo ni yo ifata ibice bitandukanye by'umubiri wacu hamwe kandi ikabiha imbaraga. Iyo ibyo byacitse intege, ibice byinshi by'umubiri bishobora kugira ingaruka, cyane cyane umutima, amaso, imiyoboro y'amaraso, n'imitsi . Uyu munsi, turaganira ku buryo iyi ndwara yitwa Marfan Syndrome igira ingaruka ku mutima.

Ni gute indwara ya Marfan Syndrome igira ingaruka ku mutima?

Iyo ufite indwara ya Marfan, ibice bibiri by'ingenzi by'umutima ni byo bibasirwa cyane.

1. Aorta: Uyu ni wo mutsi munini w'amaraso utwara amaraso akungahaye kuri ogisijeni mu mutima wacu uyajyana mu mubiri wose. Ni nk'umuyoboro mukuru utwara amazi mu kigega cy'amazi uyajyana mu nzu yawe.

2. Utugozi tw'umutima: Ibi ni ibice bikora nk'inzugi hagati y'ibyumba biri mu mutima no mu mitsi minini isohora amaraso mu mutima. Bituma amaraso atembera mu cyerekezo kimwe gusa.

Reka turebe buri kimwe muri ibi ukwacyo kugira ngo turebe uko bigenda.

Ni iki kibera kuri aorta?

Indwara ya Marfan ituma ingingo zihuza umutima zicika intege. Kimwe n'umuyoboro ushaje wa kabutura, itakaza imbaraga n'ubudahangarwa bwayo. Ibi bishobora guteza ibibazo bibiri by'ingenzi:

• Kwaguka k'umuyoboro w'amaraso: Umuyoboro w'amaraso utangira kwaguka no kwiyongera buhoro buhoro.
• Aneurysm y'umutima: Hari aho urukuta rw'umutima rucika intege kandi rushobora kubyimba inyuma nk'umupira w'amaguru.

Tekereza, iyi aneurysm imeze nk'ipine y'igare ivunguka ikava ahantu hamwe iyo umuyoboro ucitse intege.

By’umwihariko, igice cy’umutima cyegereye umutima, cyitwa 'umuzi w’umutima', ni cyo gice gikunze kwaguka cyangwa kwaguka muri ubu buryo ku bantu bafite indwara ya Marfan. Iki ni ikibazo giteje akaga, kuko iyo iyi 'aneurysm' ikuze ikavubuka ('aortic dissection' cyangwa ikavunika), ishobora gushyira ubuzima mu kaga.

Izindi ndwara nka Ehlers-Danlos syndrome, Loeys-Dietz syndrome, bicuspid aortic valve, na Turner syndrome nabyo bishobora gutuma umutima waguka, ariko bishobora no kugaragara mu bindi bice by'umutima.

Ni iki kibera ku miyoboro y'umutima?

Indwara ya Marfan ishobora kandi guteza ibibazo ku mitsi y'umutima. Iyo iyi mitsi idakora neza, umutima ugomba gukora cyane kugira ngo upompe amaraso. Uko igihe kigenda gihita, ibi bishobora gutera umutima guhagarara nabi.Bishobora kugenda uko biri kose. Indwara ebyiri z'ingenzi za valve zigaragara zifitanye isano na Marfan syndrome:

• Gusubirana kwa valve y'imitsi: Iyo valve iri hagati ya aorta n'icyumba cyo hasi cy'ibumoso cy'umutima (ventricle y'ibumoso) idafunze neza, amwe mu maraso avumbwa asubira mu mutima. Ni nk'aho robine iva.
• Kugabanuka kwa valve ya Mitral: Valve ya mitral, iri hagati y'icyumba cyo hejuru (atrium y'ibumoso) n'icyumba cyo hasi (ventricle y'ibumoso) ku ruhande rw'ibumoso rw'umutima, ntifunga neza, kandi icyumba cyo hejuru kigaragara hanze. Ibi rimwe na rimwe bishobora gutuma amaraso ava inyuma (mitral regurgitation).

Indwara z'umutima zikunze kugaragara ku bantu bafite indwara ya Marfan?

Mu by’ukuri, abantu barwaye indwara ya Marfan bafite ibyago byinshi byo kurwara ibibazo by’umutima. Ubushakashatsi bwagaragaje ko abantu icyenda kuri icumi barwaye indwara ya Marfan bazagira ikibazo runaka ku muyoboro w’umutima cyangwa aorta. Niyo mpamvu ari ngombwa kubimenya.

Ni ibihe bimenyetso by'indwara ya Marfan igira ingaruka ku mutima?

Niba ufite indwara ya Marfan syndrome, nka aortic aneurysm cyangwa indwara ya valve, ushobora kugira ibimenyetso bimwe na bimwe. Ariko, hari abantu bashobora kugira izi ndwara badafite ibimenyetso. Niyo mpamvu ibizamini byo kwa muganga ari ingenzi.

Ibi ni ibimenyetso bishobora kugaragara muri rusange:

• Kubabara mu gituza cyangwa kubabara mu mugongo wo hejuru
• Gukorora amaraso (iki ni ikimenyetso cy'akaga gato)
• Kugorwa no kumira ibiryo (niba umutima wagutse urimo gukandagira ku muhogo )
• Kumva umeze nk'uzunguza cyangwa ufite umutwe ukeye
• Kumva unaniwe cyane cyangwa ufite intege nke
• Kumva umutima utera cyane (umutima utera cyane)
• Ijwi rituje (niba umutima ukandagira ku mitsi ifitanye isano n'imitsi y'ijwi)
• Guhumeka bigoranye , cyane cyane iyo unaniwe cyangwa uryamye
• Kubyimba , cyane cyane mu maguru no mu tuguru
• Guhumeka (gucura) iyo uhumeka

Tekereza ufite inshuti yawe muremure cyane kandi inanutse. Ikunze kwinubira ububabare bwo mu gituza no kugenda bigoranye. Niba ari uko bimeze, byaba byiza ugiye kwa muganga kugira ngo urebe niba bifitanye isano na Marfan syndrome.

Ni iki gituma indwara ya Marfan igira ingaruka ku mutima?

Nkuko twabivuze mbere, Marfan syndrome ni indwara ifata ingirabuzima fatizo z'umubiri.Ntiyaremwe neza. Uturemangingo tw’umubiri dufite ubuzima bwiza tuboneka ahantu hose mu mibiri yacu. Dutanga imbaraga, imiterere, no koroshya ingingo n’imiyoboro y’amaraso. Uturemangingo tw’umutima n’imiyoboro y’amaraso, cyane cyane aorta, no mu miyoboro y’umutima.

Iyo izi ngingo zihuza umubiri zicitse intege bitewe na Marfan syndrome, zitakaza imbaraga n'ubudahangarwa bwazo. Ibi bituma umutima waguka kandi ukabyimba, ntushobore kwihanganira umuvuduko w'amaraso. Ibi kandi bituma imiyoboro y'umutima irwara kandi ntishobore gufungura cyangwa gufunga neza.

Ni ibihe bipimo by'umutima bifasha mu gusuzuma indwara ya Marfan?

Hari igihe bigorana kuyisuzuma, kuko ibimenyetso bitandukanye bitewe n'umuntu ku giti cye kandi bishobora no kwigana iby'izindi ndwara. Abantu benshi bakunze kuyimenya gusa iyo bakiri bato cyangwa bakuru.

Niba umuganga akeka ko ufite indwara ya Marfan, azakora ibintu nk'ibi:

• Hazakorwa isuzuma ryuzuye ry’umubiri . Hazasuzumwa uburebure bwawe, uburemere bwawe, uburebure bw’ukuboko n’ukuguru kwawe, imiterere y’igituza cyawe, amaso yawe, n’imiterere y’uruhu rwawe.
• Bazakubaza amateka y'ubuzima bw'umuryango wawe . Bazareba niba hari umuntu wo mu muryango wawe wigeze kugira indwara ya Marfan syndrome cyangwa ibimenyetso bisa nayo.
• Hakozwe isuzuma ryihariye (`imaging tests`) risuzuma umutima . Iry'ingenzi ni:
• Echocardiogram (Echo): Ibi bigufasha kubona neza ingano, imiterere, n'imikorere y'umutima n'imitsi y'amaraso, nk'uko byakozwe na ultrasound mu gupima umutima.
• Electrocardiogram (EKG): Iyi electrocardiogram ipima imikorere y'amashanyarazi y'umutima, ni ukuvuga umuvuduko w'umutima.
• Gupima imiterere y'uturemangingo: Iki kizamini gishobora gukorwa kugira ngo hemezwe niba ufite ihinduka ry'imiterere y'uturemangingo (muri gene ya FBN1) ritera indwara ya Marfan.

Ni ubuhe buryo bwo kuvura ibibazo by'umutima biterwa na Marfan syndrome?

Nubwo indwara ya Marfan idashobora gukira burundu, hari uburyo bwo kuvura bukoreshwa mu kugenzura ingaruka ku mutima no gukumira ingorane zikomeye. Ubu buryo buri mu bwoko bubiri: uburyo bwo kuvura butari ubwo kubaga n'uburyo bwo kubaga.

Muganga ashobora gusaba kubagwa mu bihe bikurikira:

• Niba umurambararo w'imitsi y'umutima (aorta) ari santimetero 5 (hafi santimetero 1.97) cyangwa irenga.
• Iyo umuvuduko w'umutima wiyongereyeho santimetero 0.5 (hafi santimetero 0.197) cyangwa zirenga mu mwaka umwe (ibi byitwa `kwaguka vuba`).
• Niba bene wanyu b'amaraso (abo mu muryango wawe) barakorewe ubu bwoko bw'ubu bwoko bw'ububaji (wenda bitewe n'ingaruka za genetiki, kubagwa bishobora kuba ngombwa nubwo byaba biri ku kigero gito).

Abantu bafite imibiri mito muri rusange baba bafite imiyoboro mito y'amaraso, bityo bashobora gukenera kubagwa nubwo umurambararo wayo waba muto.

Uburyo bwo kuvura butari ubwo kubaga

Izi ni zo ntambwe za mbere mu kuvura indwara ya Marfan.

• Guhindura imibereho: Ugomba kwirinda ibikorwa biremereye umutima.
• Si byiza gukora ibintu nko guterura ibyuma cyangwa gusunika.
• Siporo zigira ingaruka zikomeye nka football, rugby, na boxing ntizikwiriye.
• Vugana na muganga wawe kugira ngo umenye imyitozo ngororamubiri itekanye kandi ikubereye.
• Imiti:
• Abaganga batanga imiti yitwa `Angiotensin II receptor blockers (ARBs)` cyangwa `beta-blockers` . Iyi miti ifasha kugabanya umuvuduko w'imitsi y'umutima no kugenzura umuvuduko w'amaraso.
• Isuzuma risanzwe ry’indwara z’umutima:
• Ingano y'umutima n'imiterere y'imitsi bigomba gusuzumwa buri gihe na muganga. Ibi bishobora gukorwa hakoreshejwe scan nka `transthoracic echocardiography (Echo)`, `computerized tomographic angiography (CTA)`, cyangwa `magnetic resonance angiography (MRA)`.
• Ibi bizamini bishobora kumenya impinduka mu mutima mbere yuko ucika (ucikamo ibice).

Uburyo bwo kuvura indwara zo kubaga

Hari igihe ibibazo by'umutima n'imitsi bidashobora gukemurwa hakoreshejwe imiti no guhindura imibereho gusa. Icyo gihe ni bwo kubagwa biba ngombwa.

Intego nyamukuru yo kubaga umutima kuri Marfan syndrome ni ugusana igice cy'umutima cyacitse intege, kuwukuraho no gushyiramo valve y'ubukorano, cyangwa gusana valve y'umutima yangiritse cyangwa kuwusimbuza indi nshya.

Intego nyamukuru y'ubu buryo bwo kubaga ni ugukumira ibibazo bishobora guteza akaga nko gucika kw'imitsi ifungana.

Akenshi, ubu buryo bwo kubaga butegurwa kandi bugakorwa ku itariki yagenwe mbere y’igihe (kubaga hakoreshejwe ikoranabuhanga). Ariko, iyo umutsi w’umutima uvunitse cyangwa ugacika mu buryo butunguranye, bigomba gukorwa nk'uburyo bwihutirwa.

Hari ubwoko bwinshi bw'ingenzi bwo kubaga umutima bukorerwa indwara ya Marfan:

• Gusimbuza imizi y'umutima: Ubu ni bwo buryo bukunze gukoreshwa cyane kuko iki gice cy'umutima gikunze kubyimba cyangwa kwaguka.
• Gusana cyangwa gusimbuza valve y'imiyoboro y'amaraso.
• Gusana ikibyimba mu mitsi yegereye umutima (`Ascending aortic aneurysm repair`).
• Gusana cyangwa gusimbuza valve ya Mitral.

Umuganga w’indwara z’umutima azaganira nawe maze afate icyemezo cy’uburyo bwo kubaga bukubereye.

Ese indwara z'umutima zishobora kwirindwa niba ufite indwara ya Marfan?

Ikibabaje ni uko indwara ya Marfan idashoboka kwirindwa, kuko ari indwara iterwa n’uturemangingo. Mu buryo nk’ubwo, indwara y’umutima itera ntabwo ishobora kwirindwa burundu.

Ariko hari ibintu ushobora gukora kugira ngo ugabanye ibyago bikomeye byo kurwara indwara, nko gucika kw'imitsi ifungana:

• Kwirinda ibikorwa bishyira imihangayiko ku mutima (nk'uko twabiganiriyeho mbere, kwirinda guterura ibintu biremereye no gukora siporo zirimo imihangayiko myinshi).
• Gusuzuma indwara z'umutima ku gihe nk'uko muganga yabigutegetse.
• Gufata imiti yose yandikiwe neza kandi ku gihe.

Ikintu kimwe ugomba kwibuka by'umwihariko ni uko niba uri umugore urwaye indwara ya Marfan syndrome kandi ukaba urimo gutekereza gutwita, ugomba kubibwira muganga wawe. Ubushakashatsi bwagaragaje ko abagore bagera kuri 40% barwaye indwara ya Marfan syndrome bashobora kugira ibibazo mu gihe batwite. Kubwibyo, ni ngombwa cyane gushaka inama kwa muganga mbere yo gutwita.

Ni iki giteganijwe mu gihe kizaza ku muntu urwaye indwara y'umutima iterwa na Marfan syndrome?

Iyo umuntu urwaye indwara ya Marfan afashwe neza, ni ukuvuga gukurikiza inama z’abaganga no guhabwa ubuvuzi bukenewe, ashobora kubaho ubuzima busanzwe, wenda imyaka 70 cyangwa 80.

Ariko, ibibazo by'umutima ni byo bitera urupfu ku bantu barwaye indwara ya Marfan, bityo ni ngombwa guhora uvugana n'umuganga w'indwara z'umutima kugira ngo akurikirane uko umerewe.

Ni ryari nkwiye kujya kwa muganga? Ni ibihe bibazo byihutirwa?

Uramutse ubonye kimwe muri ibi bimenyetso, bishobora kuba ikimenyetso cy'uko imitsi y'amaraso yacitse. Ugomba kwihutira gushaka ubuvuzi bwihutirwa:

• Gutakaza ubwenge mu buryo butunguranye.
• Isesemi no kuruka.
• Kubura ibinya mu mubiri aho ari ho hose.
• Kunanirwa kwimura ibice bimwe na bimwe by'umubiri.
• Guhumeka bigoranye cyane.
• Ububabare butunguranye, budashobora kwihanganira - mu gituza, mu mugongo wo hejuru, cyangwa mu nda.
• Kubira ibyuya byinshi.
• Uruhu ruhinduka ibara ry'umukara cyangwa ubukonje budasanzwe.
• Itera ry'umutima rigabanuka cyane.

Nubona ikimenyetso nk'iki, ntugatinde n'umunota umwe.

Amaherezo, icyo ugomba kwibuka (Ubutumwa bwo kujyana mu rugo)

Indwara ya Marfan ni indwara ivukanwa ikagira ingaruka ku ngingo z'umubiri. Ishobora kugira ingaruka ku mutima cyane cyane. Ariko ntugahangayike. Iyo iyi ndwara imenyekanye hakiri kare kandi igafatwa neza, ushobora kubaho ubuzima busanzwe.

Ikintu cy'ingenzi cyane ni iki:

• Jyana na muganga wawe buri gihe.Hanyuma ashobora gukurikirana ikibazo cyawe no gutanga ibizamini n'ubuvuzi bikenewe ku gihe.
• Hindura ubuzima bwawe uko ubyifuza. Irinde ibintu bikuremereye.
• Fata umuti neza neza uko wabitegetswe.
• Niba muganga agusabye kubagwa, mubiganireho witonze hanyuma uhitemo ikikubereye.

Uko urushaho kumenya indwara yawe, niko bizakorohera kuyifata neza. Kubwibyo, twizeye ko aya makuru azagufasha. Niba ufite ikibazo icyo ari cyo cyose, ntutindiganye kubaza muganga wawe.

` Marfan Syndrome, indwara z'umutima, uturemangingo tw'umutima, imiyoboro y'umutima, ingirabuzimafatizo z'umubiri, indwara z'uturemangingo, kubagwa k'umutima