Urashaka kumenya ibijyanye na Marfan Syndrome? Reka tuganire!

Ese wigeze ubona ko hari abantu barebare cyane kurusha abandi, amaguru n'amaboko yabo, intoki, nibindi bisa nkaho ari birebire kuruta ibisanzwe? Cyangwa bafite imiterere idasanzwe y'igituza, cyangwa bafite ibibazo byo kutabona? Hari igihe, hamwe n'ibi bimenyetso, hashobora kubaho ibibazo bimwe na bimwe ku mutima no ku maso. Ni cyo Marfan Syndrome ari cyo. Iyi ni indwara iterwa n'uturemangingo. Ntugahangayike, reka tubiganireho birambuye.

Marfan Syndrome ni iki? Mu magambo make...

Mu magambo make, Marfan Syndrome ni indwara iterwa n’uturemangingo tw’umubiri (genetic) igira ingaruka ku ngingo zihuza umubiri wacu. Noneho ushobora kwibaza icyo ingingo zihuza umubiri ari cyo. Tekereza nawe, ingingo zihuza umubiri ni ubwoko bwihariye bw’ingingo zihuza ibice bitandukanye by’umubiri wacu, nk’uruhu, amagufwa, imiyoboro y’amaraso, n’imitsi y’umutima, kandi ikayifasha gukomera no koroherwa.

Ku muntu urwaye indwara ya Marfan syndrome, iyi ngingo iba ifite intege nke gato, kandi irarembera cyane . Imeze nk'umukandara w'icyuma, ariko ifite imbaraga nke. Niyo mpamvu iyi ndwara ishobora kugira ingaruka ku mikorere itandukanye y'umubiri. Ishobora kugira ingaruka ku mutima, imitsi y'amaraso, amaso, amagufwa n'ingingo .

Abaganga babyita indwara y’uturemangingo (genetic condition) ifite "impinduka mu miterere." Ibi bivuze ko abantu bose barwaye iyi ndwara batazagaragaza ibimenyetso bimwe. Hari abantu bazagira ibimenyetso bike cyane, abandi bakagira bike. Kandi igihe bifata kugira ngo ibimenyetso bigaragare gishobora gutandukana bitewe n’umuntu ku wundi.

Indwara ya Marfan ni indwara igaragara umuntu akivuka . Ariko, hari igihe ibimenyetso bigaragara kandi ushobora kuba uri umuntu mukuru cyangwa urengeje iyo uyirwaye. Ni imwe mu ndwara zikunze kugaragara mu mitsi ihuza umubiri. Yibasira umuntu umwe ku bantu 3,000 kugeza ku 5,000.

Ni ibihe bimenyetso bishobora kuba ari ibi?

Indwara ya Marfan ifite ibintu bibiri by'ingenzi. Kimwe ni aortic root aneurysm (aortic root aneurysm) . Iki ni ukubyimba cyangwa kwaguka k'umuyoboro mukuru w'amaraso utwara amaraso ava mu mutima wacu ajya mu mubiri (aorta). Ikindi ni lens y'ijisho yavuye mu mwanya wayo (ectopia lentis) .

Ibi bintu bibiri by'ingenzi bishobora gutuma ugira ibimenyetso nk'ibi:

• Gutera cyane k'umutima ni ukumva umutima wawe utera cyane kandi igituza cyawe kigakomeza gutera.
• Kumva umutima wawe utera cyane kandi vuba.
• Kubabara amaso.
• Kugorwa no guhumeka.
• Impinduka mu kureba; urugero, astigmatism no kutareba hafi cyane.

Ariko kubera ko indwara ya Marfan ishobora gufata ibindi bice by'umubiri, hari ibindi bimenyetso bishobora kugaragara. Urugero, ibimenyetso by'umubiri bishobora kuba birimo:

• Isura ishobora kugaragara nk'aho ari ndende kandi ifunganye gato.
• Amaboko, amaguru, n'intoki bigaragara ko birebire cyane ugereranije n'ibindi bice by'umubiri.
• Amenyo yuzuye ni amenyo akururwa hamwe kandi asa n'aho arundanye hejuru y'andi.
• Indwara ya Scoliose.
• Ibirenge birebire.
• Intege nke no gucika kw'ingingo byoroshye.
• Ibikomere byo ku ruhu bigaragara nubwo uburemere bw'umubiri butahindutse cyane.
• Isanduku yarohamye (pectus excavatum) cyangwa igituza kiva (pectus carinatum).
• Muremure kandi woroshye.

Ni izihe ngorane ziterwa n'iyi ndwara?

Indwara ya Marfan ishobora gutera ingorane zitandukanye zigira ingaruka ku mutima wawe, amaso yawe, n'ibihaha byawe.

Ingorane z'umutima n'imitsi ni zo ngorane zikunze kugaragara cyane muri Marfan syndrome. Izi zishobora kuba zirimo:

• Gucika kw'imitsi yo mu bwonko: Iyi ni icika ry'imbere mu rukuta rw'imitsi yo mu bwonko. Iyi ni ikibazo cyihutirwa.
• Indwara y'imitsi y'umutima: Marfan syndrome ishobora gutuma ingingo zo mu mitsi y'umutima zicika intege kandi zigahinduka.
• Umutima wagutse: Uko igihe kigenda gihita, imitsi y'umutima wawe ishobora kwiyongera no gucika intege.
• Ugutera kw'umutima nabi (Arrhythmia): Iyi ndwara ikunze kujyana no gucika intege kw'imitsi ya mitral valve.
• Imitsi yo mu bwonko: Kubyimba kw'aho amaraso adakomeye mu mitsi iri mu bwonko cyangwa hafi yaho.

Ingorane z'amaso zishobora kuba zirimo:

• Indwara zo mu kanwa.
• Indwara ya Glaucoma.
• Gucika kw'inyuma y'ijisho.

Impinduka mu mitsi y'ibihaha zijyanye na Marfan syndrome zishobora kongera ibyago byo:

• Asima.
• Indwara ya bronchitis.
• Indwara y'ibihaha idakira (COPD).
• Ibihaha byaguye / pneumothorax.
• Emphysema.
• Umusonga.

Ni iki gitera indwara ya Marfan?

Ibi biterwa n'impinduka mu miterere y'uturemangingo . By'umwihariko, impinduka mu miterere y'uturemangingo - gene ya FBN1 - ibwira uturemangingo twacu gukora poroteyine yitwa fibrillin . Iyi fibrillin ni igice cy'ingenzi cy'imigozi ikora neza mu ngingo zacu.

Kenshi na kenshi, indwara ya Marfan ni indwara umuntu avukana n'umwe mu babyeyi be . Iyi ni indwara ikomoka ku maraso.Indwara umuntu avukana. Ni ukuvuga ko iyo ndwara ishobora guterwa no kuragwa ingirabuzimafatizo z'umubyeyi umwe. Umuntu ufite indwara ya Marfan afite amahirwe angana na 50% yo kwanduza buri mwana we.

Ariko, mu bantu bagera kuri 25%, iyi ndwara ishobora guterwa n’impinduka nshya mu ngirabuzimafatizo (nta mpamvu ishobora kumenyekana), hatabayeho amateka y’umuryango.

Ni gute abaganga bapima indwara ya Marfan?

Kubera ko indwara ya Marfan igira ingaruka ku ngingo nyinshi zitandukanye z'umubiri, ushobora gukenera ubufasha bw'itsinda ry'inzobere kugira ngo bamenye iyo ndwara kandi bategure gahunda yo kuyivura.

Ubwa mbere, abaganga bakora ibi bikurikira:

• Baza amateka yawe y'ubuvuzi.
• Hazakorwa isuzuma ry’umubiri kugira ngo harebwe niba hari ibimenyetso bisanzwe by’indwara.
• Kubaza ibimenyetso byawe.
• Baza niba hari umuntu wo mu muryango wigeze kugira ibibazo by'ubuzima bifitanye isano na Marfan syndrome.

Ubusanzwe abaganga bakoresha ibipimo byitwa "Ghent nosology" kugira ngo bamenye indwara ya Marfan. Ibipimo bikurikira bishobora kuba ari byiza kugira ngo byemezwe indwara cyangwa ngo bivaneho izindi ndwara zisa nazo:

• Isuzuma rya CT `(Isuzuma rya mudasobwa - Isuzuma rya CT)`.
• X-ray yo mu gituza.
• Ikizamini cya E.C.G. `(Electrocardiogram - ECG)`.
• Echocardiogram.
• MRI scan (Ishusho ya Magnetic resonance - MRI)

Ikizamini cy’uturemangingo (iki ni ikizamini cy’amaraso) gishobora kureba impinduka muri gene ya FBN1, akenshi ikaba ari yo itera indwara ya Marfan. Ariko, ibisubizo by’ibi bizamini by’uturemangingo ntibihora bisobanutse neza. Iki kizamini gishobora kandi kureba izindi ndwara zitera ibimenyetso nk’ibyo, nka Loeys-Dietz syndrome.

Indwara ya Marfan ivurwa ite?

Nta muti uhari wa Marfan syndrome. Ariko, hari uburyo butandukanye bwo kuvura n'uburyo bushobora kugufasha guhangana n'ibimenyetso byawe no kwirinda ingorane. Muri ubwo buryo harimo:

• Imiti.
• Gukurikirana ubuvuzi buri gihe.
• Ubuyobozi bw'imyitozo ngororamubiri.
• Kubagwa.

Ukeneye gahunda y'ubuvuzi yihariye ku bibazo by'ubuzima bwawe.

Imiti

Imiti imwe n'imwe ishobora gufasha gukumira cyangwa kugenzura ingorane:

• Beta-blockers: Izi zirinda cyangwa zigabanye ukwiyongera kw'imitsi minini. Abaganga bakugira inama yo gutangira ubu buvuzi hakiri kare ku bantu bafite indwara ya Marfan syndrome. Niba udashobora kubifata kubera indwara nka asima cyangwa ingaruka mbi, muganga wawe ashobora kuguha umuti ufunga imiyoboro ya calcium .
• Imiti igabanya imikorere ya Angiotensin II receptor blockers (ARBs):Iyi miti ishobora kandi gufasha kugabanya umuvuduko wo kwaguka kw'amara manini.

Niba wabazwe imitsi y'umutima bitewe na Marfan syndrome, uzakenera gufata imiti igabanya amaraso mu buzima bwawe bwose.

Gukurikiranwa n'abaganga buri gihe

Ugomba kwisuzumisha kwa muganga buri gihe kuri ibi bintu:

• Umutima n'imitsi y'amaraso - cyane cyane ingano ya diaphragm yawe nini.
• Amaso.
• Imiterere y'amagufwa.

Muri ubu buryo, itsinda ry’abaganga bawe rishobora gukurikirana impinduka no kumenya ingorane zishobora kubaho hakiri kare. Bazakubwira inshuro ugomba kuza muri ibyo bipimo.

Ubusanzwe iri genzura rikubiyemo ibizamini byo gufata amashusho nka:

• Gupima CT.
• Isuzuma ry'umutima (Echocardiograms).
• Gupima MRI.

Ubuyobozi bw'imyitozo ngororamubiri

Gukora imyitozo ngororamubiri iremereye kandi isaba imbaraga nyinshi bishobora gushyira igitutu kuri diaphragm yawe n'izindi ngingo zihuza umubiri zigizweho ingaruka na Marfan syndrome. Kubwibyo, ugomba gukorana n'umuganga w'imitsi kugira ngo ubone imyitozo ngororamubiri n'imikino ikubereye.

Ubusanzwe abaganga bagusaba gukora imyitozo ngororamubiri ikoresheje imbaraga nke kugeza ku rugero, ariko niba warabazwe ku mizi y'imitsi yawe ya mitral valve cyangwa valve, ushobora gukenera gukora imyitozo ngororamubiri ku rwego rwo hasi cyane.

Muri rusange, ugomba kwirinda ibintu nk'ibi:

• Ibikorwa birimo gufata umwuka wawe no kwihatira cyane (Valsalva maneuver).
• Vugana na siporo.
• Gukora imyitozo ngororamubiri kugeza ku ndushye.
• Imyitozo isaba gufata umwanya umwe igihe kirekire, nko mu mbaho ​​no mu myanya yo ku rukuta, yitwa imyitozo ya isometric.

Kubaga umutima

Intego nyamukuru zo kubaga umutima kuri Marfan syndrome ni ukurinda ko valve yawe ya aortic yaguka cyangwa yacika, no kuvura ibibazo by'imashini. Wowe n'itsinda ry'abaganga muzafata umwanzuro hamwe niba ukeneye kubagwa, nyuma yo gusuzuma ibintu byinshi.

Ubu ni bwo buryo bwo kubaga bukunze gukorwa cyane ku ndwara ya Marfan:

• Gusana cyangwa gusimbuza valve y'imiyoboro y'amaraso.
• Gusana aneurysm y'umuyoboro w'amaraso uzamuka.
• Gusana cyangwa gusimbuza valve ya Mitral.
• Gusana imiyoboro y'amaraso mu gituza.

Niba ukeneye kubagwa, gerageza guhitamo ibitaro bikomeye bifite uburambe mu bwoko bw'ubuvuzi ugiye kubagwa. Itsinda ryawe rishinzwe kubaga rigomba kandi kuba risobanukiwe neza indwara ya Marfan.

Ni iki ushobora kwitega mu gihe ubana n'indwara ya Marfan?

Niba ufite indwara ya Marfan, uzakenera kujya kwa muganga buri gihe no kumenya uko umubiri wawe umeze. Iyi ndwara ya Marfan ntabwo ifata abantu bose kimwe, bityo urugendo rwawe n'iyi ndwara ruzaba rwawe rudasanzwe. Itsinda ry'abaganga rizagufasha kumenyera impinduka mu ndwara yawe.

Wibuke ko utari wenyine. Itsinda ry'abaganga rihora riri kumwe nawe.

Bitewe n’ubumenyi bwinshi kuri Marfan syndrome no kunoza ubuvuzi, abantu barwaye Marfan syndrome ubu baramba kurusha uko bari bameze mbere y’imyaka ya 1970. Imyaka yo kubaho k’umuntu urwaye Marfan syndrome ubu ingana hafi n’iy’umuntu udafite iyo ndwara. Ariko, imyaka yo kubaho k’abagabo ni mike cyane ugereranyije n’iy’abagore.

Indwara z'umutima n'imitsi zikomeje kuba impamvu ikomeye y'impfu muri Marfan syndrome. Ibi ni ukuri cyane cyane ku mfu zitunguranye zibaho iyo indwara itamenyekanye. Ingaruka ziba nyinshi kandi ku bantu bamenyeshejwe ko iyi ndwara igeze mu zabukuru.

Indwara ya Marfan n'ubuzima bwo mu mutwe

Hari ibintu byinshi bishobora kugira ingaruka ku buzima bwawe bwo mu mutwe no ku mibereho yawe iyo urwaye indwara ya Marfan. Urugero:

• Indwara ya Marfan ni indwara idakira kandi isaba kuvurwa ubuzima bwose.
• Uburyo iyi ndwara igira ingaruka ku isura yawe.
• Ububabare n'umunaniro udashira.
• Kubuza abantu gukora imyitozo ngororamubiri (ibi bikunze kugira ingaruka ku mibanire n'abandi).
• Igitutu cyo kuboneza urubyaro.

Kubera iyo mpamvu, ushobora kuba uri mu kaga gakomeye ko kurwara ibintu nk'ibi:

• Guhangayika.
• Kwiheba.
• Gutotezwa n'abandi.
• Kwigunga mu bandi.

Abaforomo n'abagize imiryango y'abantu barwaye indwara ya Marfan nabo bashobora kugira ibyo bibazo byo mu mutwe.

Ubuzima bwawe bwo mu mutwe ni ingenzi kimwe n'ubuzima bwawe bw'umubiri.

Niba wumva ufite stress bitewe na Marfan syndrome, ntukibagirwe gushaka ubufasha ku baganga b'indwara zo mu mutwe, urugero nk'umuhanga mu by'imitekerereze y'abantu . Ushobora kandi gusanga ari byiza kujya mu itsinda ry'abaterankunga.

Ubuzima ufite indwara ya Marfan bushobora kumera nk'urugi ruzenguruka rw'inama, ubuvuzi, no guhindura imibereho. Ariko ikizamini cyose na gahunda yose bigufasha kwirinda ingorane ziterwa na Marfan syndrome no kubaho ubuzima bwiza uko bishoboka kose. Itsinda ry'abaganga riri kumwe nawe muri byose. Shaka ubufasha bwabo n'ubuyobozi. Niba wumva uremerewe n'ibi byose, shaka ubufasha ku baganga b'indwara zo mu mutwe.

Ibintu by'ingenzi ugomba kuzirikana (Ubutumwa bwo kujyana mu rugo)

Sawa, reka turebe zimwe mu ngingo z'ingenzi ugomba kwibuka mu byo twavuzeho:

• Indwara ya Marfan ni indwara iterwa n'uturemangingo., igira ingaruka ku ngingo zihuza umubiri wacu.
• Ibi bishobora kugira ingaruka ku bice bitandukanye nko ku mutima, amaso, n'amagufwa. Ni ngombwa cyane kwisuzumisha kwa muganga buri gihe .
• Nubwo nta muti wuzuye uhari, hari uburyo bwiza bwo kuvura ibimenyetso no gukumira ingorane.
• Kurikiza amabwiriza ya muganga wawe neza. Fata imiti yawe ku gihe kandi uhabwe ibizamini wategetswe.
• Ugomba kwitonda cyane mu gihe ukora imyitozo ngororamubiri. Baza muganga wawe cyangwa umuvuzi w'imiti ijyanye n'imyitozo ngororamubiri ikubereye.
• Wite ku buzima bwawe bwo mu mutwe. Ntugatinye gushaka ubufasha niba ubukeneye.
• Ntabwo uri wenyine, ufite itsinda ry'abaganga, umuryango, n'inshuti zo kugufasha.

Ndizera ko aya makuru azagufasha. Niba ufite ibindi bibazo, ntutindiganye kubaza muganga wawe.

Indwara ya Marfan , indwara y’uturemangingo, ingingo zihuza, indwara z’umutima, amagufwa, amaso, fibrillin