Amaguru maremare kandi maremare adasanzwe... Wenda iyi ni Marfan Syndrome!

Ese nawe wumva uri muremure cyane kandi ufite amaboko n'amaguru maremare kurusha inshuti zawe? Cyangwa ingingo zawe zavunitse byoroshye? Ese wagiye wambara indorerwamo kuva mu bwana bwawe? Niba kimwe muri ibi bintu kikureba, bishobora kuba ingenzi cyane ko umenya indwara tuvuga uyu munsi, yitwa Marfan Syndrome. Nubwo ibi bitamenyerewe gato, reka tubiganireho mu buryo bworoshye.

Mu magambo make, Marfan Syndrome ni iki?

Tekereza umubiri wacu nk'inyubako yubatswe neza cyane. Amatafari, inkuta n'igisenge by'iyi nyubako bifatanye kandi bigakomera hakoreshejwe sima. Mu buryo nk'ubwo, hari ubwoko bwihariye bw'ingingo zihuza buri kintu cyose kiri mu mubiri wacu, nk'ingingo, amagufwa, imitsi, n'imiyoboro y'amaraso, kandi bikayiha imbaraga n'ubushobozi bwo koroherwa bikenewe. Mu buvuzi, ibi tubyita "ingingo zihuza." Ibi bimeze nk'"ishinya" mu mubiri wacu.

Marfan Syndrome ni indwara iterwa n’uturemangingo. Umuntu ufite iyi ndwara aba afite ingirangingo zidakomeye, cyangwa se, zirekuye cyane. Ibi bivuze ko ingirangingo zidakomeye kandi zigoramye. Kubera ko iyi ngirangingo iboneka mu mubiri wose, Marfan Syndrome ishobora gufata ibice byinshi by’umubiri wacu. Ishobora gufata cyane cyane umutima, imiyoboro y’amaraso, amaso, amagufwa, n’ingingo .

Nubwo iyi ari indwara umuntu avukana, hari igihe ibimenyetso bigaragara kandi bigafatwa nk'indwara akiri muto.

Ni ibihe bimenyetso bishobora kuba ari ibi?

Ikintu cy'ingenzi cyo gusobanukirwa hano ni uko atari abantu bose bafite Marfan Syndrome bazagira ibimenyetso bimwe. Bitandukanye cyane bitewe n'umuntu ku giti cye. Hari abantu bashobora kugira ibimenyetso byinshi, abandi bakaba bafite bike gusa. Niyo mpamvu abaganga bita iki kibazo gifite "impinduka mu miterere."

Ariko, hari ibintu bimwe na bimwe bisanzwe bigaragara. Reka tubicemo ibice bibiri.

Uretse ibi bintu bibiri by'ingenzi, hari n'ibindi bintu bifitanye isano n'uko umubiri ugaragara.

Ni izihe ngorane zishobora guterwa na Marfan Syndrome?

Iyo iki kibazo kidafashwe neza, hashobora kubaho ingorane zikomeye uko igihe kigenda gihita.

Ingaruka zishobora kubaho ku mutima no mu miyoboro y'amaraso

Izi ni zo ngorane zisaba kwitabwaho cyane muri Marfan Syndrome.

• Gucamo imitsi y'amaraso: Iyi ni yo ndwara iteje akaga cyane. Urukuta rw'imitsi y'amaraso rugizwe n'ibice byinshi. Gucika mu buryo butunguranye mu gice cy'imbere cy'uru rukuta bishobora gutuma amaraso ava hagati y'ibice. Iyi ni indwara ishobora gushyira ubuzima mu kaga isaba kubagwa byihutirwa.
• Indwara y'imitsi y'umutima: Imitsi yo mu mutima iracika intege kandi ishobora kudafunga neza, bigatuma amaraso ava inyuma.
• Umutima wagutse: Imitsi y'umutima ishobora kwaguka no gucika intege kubera ko umutima ugomba gukora cyane uko igihe kigenda gihita.
• Ugutera kw'umutima kutumvikana neza (Arrhythmia): Ugutera kw'umutima gushobora kuba guhindagurika.
• Imitsi y'ubwonko: Ahantu hadakomeye mu mitsi y'amaraso iri mu bwonko cyangwa hafi yaho hashobora kubyimba nk'umupira w'amapine.

Ingaruka ku maso

• Indwara z'amaso
• Glaucoma
• Gutandukanya retinal

Ingaruka ku bihaha

Kugabanuka kw'ingingo zishobora no kugira ingaruka ku bihaha.

• Asima
• Indwara zo mu bihaha (Bronchitis, Pneumonia)
• Ibihaha byaguye (Pneumothorax)

Kuki indwara ya Marfan ibaho? Ni iyihe mpamvu?

Impamvu nyamukuru ibi ni ihinduka ry’uturemangingo (genetic mutation). Fibrillin-1, iboneka mu ngingo zihuza umubiri wacu.Hari gene igenzura ikorwa rya poroteyine yitwa ``fibrillin.`` Yitwa gene ya ``FBN1''. Abantu barwaye Marfan Syndrome bafite impinduka runaka, cyangwa inenge (impinduka), muri iyi gene ya ``FBN1''. Ibi bituma umubiri ukora poroteyine ya fibrillin idakomeye.

• Akenshi (hafi 75%), gene ifite inenge iragwa n'umubyeyi umwe. Iyo umwe mu babyeyi afite iyo ndwara, buri mwana afite amahirwe ya 50% yo kurwara iyo ndwara.
• Mu 25% bisigaye by’abanduye, umwana ashobora kugira iyi ndwara nubwo ababyeyi be baba badafite iyo ndwara. Impamvu nyayo ntiraboneka.

Abaganga babibona bate ibi?

Kubera ko indwara ya Marfan Syndrome ifata ibice byinshi by'umubiri, bishobora gusaba itsinda ry'abaganga bo mu nzego zitandukanye kugira ngo bakore isuzuma nyaryo. Mu bisanzwe, umuganga wawe azakurikiza izi ntambwe:

• Kubaza amateka yawe y'uburwayi n'ibimenyetso: Kubaza ku kuntu umerewe nabi, ibibazo byo kutabona, cyangwa ububabare bw'ingingo.
• Isuzuma ryuzuye ry’umubiri: ripima uburebure, uburemere, uburebure bw’ingingo, niba hari ububabare bw’umugongo, n’imiterere y’igituza.
• Kubaza amateka y'ubuzima bw'umuryango: Kubaza ibintu nko kuba hari umuntu wo mu muryango wigeze kugira ibi bimenyetso, cyangwa niba hari uwapfuye azize guhagarara k'umutima mu buryo butunguranye.
• Kohereza abantu ku bizamini byihariye:
• Echocardiogram (Ikizamini cya Echo): Iki ni cyo kizamini cy'ingenzi cyane. Gishobora kugenzura imiterere y'umutima na aorta, ndetse n'imikorere y'uturemangingo.
• Electrocardiogram (ECG): Reba niba umutima utari umeze neza.
• Gupima CT cyangwa MRI: Reba uburebure bwose bw'imitsi ifungana n'indi mitsi y'amaraso mu buryo burambuye.
• Isuzuma ry'amaso: Menya aho indorerwamo y'ijisho iherereye n'ibindi bibazo.
• Ikizamini cya genetiki: Ikizamini cy'amaraso gishobora gufatwa kugira ngo hamenyekane niba hari inenge muri gene ya `FBN1`.

Ni ubuhe buryo bwo kuvura ibi?

Mbere na mbere, nta muti wa Marfan Syndrome uhari. Ariko ntugahangayike. Birashoboka kuyifata neza, ukirinda ingorane, kandi ukabaho ubuzima busanzwe kandi buzira umuze. Intego nyamukuru yo kuvura ni ukugenzura ibimenyetso no gukumira ingorane zikomeye.

Imiti

• Beta-blockers: Iyi miti igabanya umuvuduko w'umutima gato, ikagabanya umuvuduko w'amaraso, kandi ikagabanya umuvuduko w'amaraso kuri aorta. Ibi bishobora kugabanya umuvuduko w'amaraso kuri aorta.
• Angiotensin II Receptor Blockers (ARBs): Iyi miti inafasha mu kurinda umuyoboro w'amaraso.

Gukurikirana buri gihe

Iki ni cyo gice cy'ingenzi cyane mu bijyanye no gucunga. Ugomba kujya kwa muganga ku gihe gisanzwe no kwipimisha.

• Umutima n'imitsi y'amaraso: Ikizamini cya echo gikorwa nibura rimwe mu mwaka kugira ngo harebwe impinduka mu bunini bw'umuyoboro w'amaraso.
• Amaso: Ugomba gusuzumwa amaso yawe buri gihe na muganga w’amaso.
• Uduce tw'amagufwa: Ugomba kandi kwitondera ibintu nk'umugongo wawe.

Inama ku myitozo ngororamubiri

Imyitozo ngororamubiri ni myiza ku muntu urwaye Marfan Syndrome, ariko si imyitozo ngororamubiri yose iba myiza. Imyitozo ngororamubiri imwe n'imwe ikomeye ishobora gushyira igitutu ku muyoboro w'amaraso. Kubwibyo, ni ngombwa kuvugana na muganga wawe kugira ngo umenye imyitozo ikubereye.

Kubaga Umutima

Iyo umuyoboro w’amaraso ubaye munini cyane, abaganga bashobora kubagira inama yo kubaga kugira ngo bakureho igice cy’umutima gito kandi bashyiremo agace kawugize mbere yuko gacika. Iyo imiyoboro y’umutima yangiritse, bashobora kubagwa kugira ngo basane cyangwa basimbuze.

Ubuzima n'ubuzima bwo mu mutwe hamwe na Marfan Syndrome

Kubana na Marfan Syndrome bishobora kugorana rimwe na rimwe. Guhora ubona abaganga, gufata imiti, no guhindura imibereho bishobora kunaniza.

Kandi nanone,

• Gutekereza ku miterere y'umubiri wawe bishobora gutera guhangayika.
• Kubabara umubiri kenshi no kunanirwa.
• Iyo udashobora gukina siporo, kwiruka no gukina nk'abandi bantu, ushobora kumva uri mu bwigunge.
• Ibintu nk'ejo hazaza no gushinga umuryango bishobora gutera ubwoba.

Kubera izo mpamvu, hari ibyago byo kugira ibibazo byo mu mutwe nko guhangayika no kwiheba .

Kubera ubumenyi dufite kuri Marfan Syndrome n'uburyo bushya bwo kuvura, igihe cyo kubaho cy'umuntu ufite iyi ndwara ubu gisa cyane n'icy'umuntu usanzwe. Ikintu cy'ingenzi ni ukumenya indwara hakiri kare no kuyifata neza.