Marfan Syndrome Ndiyo Chii? Zviratidzo, Zvinokonzera, Uye Kurapwa

Marfan syndrome chirwere chinogara munzira dzekuzvarwa chinotambudza tishu dzinobatanidza muviri wako - “gumbo” rinochengeta nhengo dzako, mapfupa, uye ropa riri pamwe chete. Fungidzira tishu dzinobatanidza sechinhu chinotsigira muviri wako, sezvinoita simbi muimba.

Chirwere ichi chinokanganisa zvikamu zvakawanda zvemuviri wako nekuti tishu dzinobatanidza dziri kwose kwose. Mwoyo wako, ropa, mapfupa, majoini, uye maziso zvose zvinoenderana netishu dzinobatanidza dzakakwana kuti zviite zvakanaka. Kunyange zvazvo Marfan syndrome isingawanzoitika, ichikanganisa munhu mumwe chete pakati pevanhu 5,000, kunzwisisa kwacho kunogona kukubatsira kuziva zviratidzo zvikuru uye kutsvaka kurapwa kwakakodzera.

Zviratidzo zveMarfan syndrome ndizvipi?

Zviratidzo zveMarfan syndrome zvakasiyana-siyana kubva kune munhu kune mumwe, kunyange mumhuri imwe chete. Vamwe vanhu vane zviratidzo zvishoma izvo hazvikanganisi hupenyu hwavo hwezuva nezuva, nepo vamwe vachiona shanduko dzinooneka dzinoshamisa kurapwa kwemishonga.

Zviratidzo zvakajairika zvaunogona kuona zvinosanganisira kuva murefu uye wakakonda zvisina kujairika, nemaoko marefu, makumbo, uye minwe. Kukura kwako kunogona kunge kuri kukuru kupfuura kukwirira kwako, uye minwe yako inogona kureba zvekuti kana uchiifunga paruoko rwako, chigunwe chako chikuru nechikuru zvinopindirana.

Heano madiki makuru apo zviratidzo zvinowanzooneka:

• Zvinhu zvemapfupa: Kwirira kwakareba, nhengo dzakareba neminwe, musana wakakombama (scoliosis), chipfuva chinodonha kana kubuda, tsoka dzakapfava, majoini asina simba
• Mwoyo neropa: Ruzha rwemwoyo, kurova kwemwoyo nekukurumidza, kushomeka kwemhepo panguva yekufamba, kurwadziwa kwechest, kuzvidza
• Maziso: Kushaya kuona kwakanyanya, lens dislocation, cataracts ekutanga, detached retina
• Ganda netishu: Stretch marks dzisingabatani nekuchinja kwekuoma, ganda rakapfava rinorwadza nyore, hernias
• Nervous system: Matambudziko ekudzidza, matambudziko ekutarisa, kunetseka kutaura (kushoma)

Zvakakosha kuyeuka kuti kuva nezvimwe zviratidzo zviviri hazvirevi kuti une Marfan syndrome. Vanhu vakawanda vakareba kana vane minwe mirefu pasina kuva nechirwere ichi.

Chii chinokonzera Marfan syndrome?

Marfan syndrome inoitika nekuda kwekuchinja kwegene chaiyo inonzi FBN1. Iyi gene inopa muviri wako mirairo yekugadzira protein inonzi fibrillin-1, iyo yakakosha kune tishu dzinobatanidza dzakakwana.

Kana gene yeFBN1 iine mutation, muviri wako unoita fibrillin-1 shoma kana kugadzira shanduro yakanganisika yacho. Pasina fibrillin-1 yakakwana, tishu dzako dzinobatanidza dzinowedzera kupera simba uye kunyanya kunyanya kupfuura zvaifanira kuva.

Anenge 75% yevanhu vane Marfan syndrome vanogara nayo kubva kuna mubereki anewo. Kana mubereki mumwe chete ane Marfan syndrome, mwana wese ane mukana we50% wekugara nechinhu ichi. 25% yasara yezviitiko zvinoitika kana kuchinja kwegene kuchitika zvisingatarisirwi, zvinoreva kuti hapana mubereki ane chirwere ichi.

Kuchinja uku kunogona kuitika kune ani zvake, pasinei nehupenyu hwemhuri, zera, kana mararamiro. Hazvikonzerwi nechinhu chipi zvacho vabereki vakaita kana vasina kuita panguva yekuzvitakura.

Rini unofanira kuona chiremba nekuda kweMarfan syndrome?

Unofanira kufunga nezvekuona chiremba kana ukaona zviratidzo zvakawanda zveMarfan mune iwe kana mwana wako. Kuonekwa pakutanga kunogona kuponesa hupenyu nekuti mamwe matambudziko, kunyanya anosanganisira mwoyo, anogona kuva akakomba kana asina kurapwa.

Tsvaka rubatsiro rwekurapa nekukurumidza kana uine kurwadziwa kwechest, kushomeka kwemhepo kwakanyanya, kurova kwemwoyo kwasinganzwisisiki, kana kuchinja kwekuona kwakapfupi. Izvi zviratidzo zvinogona kuratidza matambudziko akakomba anoda kurapwa nekukurumidza.

Kuti uongororwe zvakajairwa, funga nezvekuita appointment kana uine nhoroondo yemhuri yeMarfan syndrome, kunyange kana usina zviratidzo zvakajeka. Dzimwe nguva chirwere ichi chinogona kuva chidiki uye chisingazivikanwi kwemakore mazhinji.

Zvakare kuchenjera kubvunza nyanzvi yekurapa kana uri kuronga kuva nevana uye une Marfan syndrome mumhuri yako. Genetic counseling inogona kukubatsira kunzwisisa njodzi uye sarudzo dziripo kwauri.

Zvinhu zvinokonzera njodzi yeMarfan syndrome ndizvipi?

Chinhu chikuru chinokonzera njodzi yeMarfan syndrome ndechekuva nemubereki ane chirwere ichi. Sezvo ichitevera autosomal dominant pattern, unongoda kopi imwe chete yegene yakachinja kuti ubude syndrome.

Nekudaro, kusava nenhoroondo yemhuri hazvirevi kuti uri wakachengeteka kubva pakubuda kweMarfan syndrome. Anenge munhu mumwe chete pakati pevana vana vane chirwere ichi haana nhoroondo yemhuri, zvinoreva kuti kuchinja kwavo kwegene kwakaitika zvisingatarisirwi.

Zera rakakura revabereki, kunyanya madzibaba makuru, rinogona kuwedzera njodzi yekuchinja kwegene zvisingatarisirwi, asi njodzi iyi ichiri diki zvikuru. Chirwere ichi chinokanganisa mapoka ese emarudzi uye varume nevakadzi zvakafanana.

Matambudziko anogona kuitika eMarfan syndrome ndeapi?

Kunyangwe vanhu vakawanda vane Marfan syndrome vachirarama hupenyu hwazvo hwese, chirwere ichi chinogona kutungamira kumatambudziko akakomba kana chisingatarisirwi zvakanaka. Matambudziko anotyisa zvikuru anowanzo sanganisira mwoyo wako neropa.

Heano matambudziko makuru aunofanira kuziva:

• Aortic enlargement: Aorta yako (ropa guru kubva mumwoyo wako) inogona kunyanya kuwedzera uye kupera simba, zvichikwanisa kutungamira pakuputika kunouraya
• Matambudziko eheart valve: Valves dzinogona kusavhara zvakanaka, zvichiita kuti ropa riyerere shure
• Matambudziko ekuona: Lens dislocation, retinal detachment, kana glaucoma ekutanga anogona kukanganisa kuona kwako
• Matambudziko emusana: Scoliosis yakakomba inogona kuda kuvhiya uye inogona kukanganisa kufema
• Matambudziko emuviri: Kupera kwemuviri (pneumothorax) kunogona kuitika, kunyanya muvanhu vakareba, vakakonda

Mashoko akanaka ndeawo kuti nekutarisa kwakakodzera nekurapwa, matambudziko mazhinji aya anogona kudzivirirwa kana kutarisirwa zvakanaka. Kuongororwa nguva dzose nevanachiremba kunogona kubata matambudziko pakutanga apo ari kurapika zvikuru.

Marfan syndrome inoongororwa sei?

Kuongorora Marfan syndrome kunoda kuongororwa kwakakwana nekuti hapana bvunzo imwe chete inogona kusimbisa chirwere ichi. Chiremba wako achashandisa zviyero zvakasimbiswa zvinoona nhoroondo yemhuri yako, zviratidzo zvemuviri, uye mhinduro dzebvunzo dzakasiyana-siyana.

Maitiro ekuongorora anowanzo sanganisira kuongororwa kwemuviri kwakakwana kwaunenge uchinyorwa nemuviri wako uye uchiona zviratidzo zvakakosha. Vachaongorora mapfupa ako, ganda, uye chitarisiko chako chose.

Bvunzo dzakawanda dzakakosha dzinobatsira kusimbisa kuongororwa. Echocardiogram inotarisa mwoyo wako neaorta, nepo kuongororwa kwemaziso ne ophthalmologist kuchiongorora matambudziko e lens nedzimwe nyaya dzekuona. Chiremba wako anogona kurayirawo bvunzo dzemapfupa emusana wako nezvimwe zvikamu zvemuviri.

Genetic testing inogona kuziva mutations muFBN1 gene, kunyange zvisiri nguva dzose zvakakosha pakuzivisa. Dzimwe nguva zviratidzo zvemuviri zvakajeka zvakakwana kuti zviite kuongorora pasina genetic testing.

Kurapwa kweMarfan syndrome ndechii?

Kurapwa kweMarfan syndrome kunotarisa pakutarisira zviratidzo uye kudzivirira matambudziko pane kurapa chirwere icho pachacho. Chinangwa ndechekukubatsira kurarama sezvakajairwa sezvinobvira uchichengeta nhengo dzako dzakakuvadzwa.

Timu yako yekurapa ichava nespecialists vakawanda vanoshanda pamwe chete. Cardiologist inotarisa mwoyo wako neropa, nepo ophthalmologist achitarisa maziso ako. Orthopedic specialist inogona kubatsira nematambudziko emafupa ne majoini.

Nzira dzekurapa dzinosanganisira:

• Mishonga: Beta-blockers kana ARBs kuchengetedza aorta yako uye kuderedza kushanda kwemwoyo
• Kuvhiya: Aortic repair, heart valve replacement, kana scoliosis correction kana zvichidiwa
• Kuchinja kwemabasa: Kudzivisa mitambo inobatanidza uye kukwidza uremu hwakakura kuchengetedza mwoyo wako neropa
• Kuongororwa nguva dzose: Kuongororwa nguva dzose uye bvunzo kubata matambudziko pakutanga
• Kuona kwakakodzera: Magirazi, makonta, kana kuvhiya nematambudziko emaziso

Vanhu vakawanda vane Marfan syndrome vanogona kubatanidzwa mumabasa asingakonzere kukuvadzwa kwakakura senge kushambira, kukwira bhasikoro, kana kufamba. Chiremba wako achakubatsira kuona kuti mabasa api akachengeteka kune mamiriro ako chaiwo.

Nzira yekutarisira Marfan syndrome pamba?

Kurarama zvakanaka neMarfan syndrome kunosanganisira kuita sarudzo dzehupenyu dzakachenjera uye kuramba wakazvipira kune chirongwa chako chekurapwa. Sarudzo diki dzezuva nezuva dzinogona kuita musiyano mukuru muhutano hwako hurefu uye mhando yehupenyu.

Tarisisa kuchengetedza uremu hwakanaka kuderedza kunetseka pamajoini ako uye sisitimu yemwoyo. Kudya kudya kwakakwana kwakapfuma mu calcium ne vitamin D kunotsigira hutano hwemfupa, izvo zvakakosha zvikuru zvichifunga nezve zvikamu zvemapfupa zvechirwere ichi.

Rambai muchifamba nemaekisesaizi akabvumirwa senge kushambira, kufamba, kana yoga. Aya mabasa anogona kubatsira kuchengetedza simba retsandanyama uye kunyanya kunyanya kusagadzikana pasina kuisa kunetseka kwakanyanya patishu dzako dzinobatanidza.

Chengetedza maziso ako nekupfeka magirazi ezuva uye kuita bvunzo dzemaziso nguva dzose. Kana uine matambudziko ekuona, ita shuwa kuti prescription yako yakakwana uye funga kupfeka magirazi ekudzivirira panguva yekufamba.

Tora mishonga yako sezvakarayirwa uye chengeta maappoinment ese ekutevera. Usasiye zvikamu kana kumisa mishonga pasina kutaura nachiremba wako kutanga, kunyange kana uchifunga zvakanaka.

Ungagadzirira sei appointment yako yechiremba?

Kuagadzirira appointment yako kunobatsira kuve nechokwadi chekuti unowana zvakawanda kubva panguva yako nemutapi wenyu wehutano. Tanga nekutsvaga ruzivo nezvenhoroondo yemhuri yako yekurapa, kunyanya hama dzine Marfan syndrome kana kufa kwemwoyo kwakapfupi.

Gadzira runyorwa rwezviratidzo zvako zvese, kunyange kana zvichiita sezvisina kubatana. Sanganisira pavakatanga, kakawanda sei vanoitika, uye chii chinovaita zvakanaka kana zvakanyanya. Usakanganwa kutaura nezvekuchinja kwekuona, kurwadziwa kwejoini, kana kunetseka kufema.

Uyai nerunyorwa rwakakwana remishonga, zvinowedzerwa, uye mavhitamini aunotora. Sanganisira huwandu uye kakawanda kwekushandisa kweumwe neumwe. Kana uchitora mishonga yakawanda, funga kuuya nemabote chaiwo kudzivisa kusanzwisisika.

Gadzira mibvunzo usati watanga. Ungada kubvunza nezvemiganho yekufamba, rini rekutevera maappoinment, kana kuti zviratidzo zvipi zvinofanira kukurudzira kurapwa nekukurumidza.

Funga kuuya nemhuri kana shamwari kukubatsira kuyeuka ruzivo rwakakosha uye kupa rutsigiro rwemanzwiro panguva yekuona.

Chii chinonyanya kukosha nezve Marfan syndrome?

Marfan syndrome chirwere chinogona kutarisirwa chinokanganisa tishu dzinobatanidza mumubiri wako wese. Kunyange zvazvo ichida kuongororwa kwenguva refu nekutarisirwa, vanhu vakawanda vane Marfan syndrome vanogona kurarama hupenyu hwazvo hwese, hwakabudirira nekutarisirwa kwemishonga kwakakodzera.

Chinhu chakakosha chokuyeuka ndechekuti kuonekwa pakutanga nekutarisirwa nguva dzose kunogona kudzivirira matambudziko akakomba. Kana uchifunga kuti iwe kana nhengo yemhuri yako ingave ine Marfan syndrome, usambofunga kuita kuongororwa kwemishonga.

Kushanda pedyo nechikwata chako chekurapa, kuramba uine ruzivo nezve mamiriro ako, uye kutevera chirongwa chako chekurapwa ndiwo zvombo zvako zvakanakisisa zvekurarama zvakanaka neMarfan syndrome. Yeuka kuti kuva nechirwere ichi hakusi kukusimbisa - chikamu chimwe chete chehutano hwako chinoda kutarisirwa nekutarisirwa.

Mibvunzo inowanzo bvunzwa nezve Marfan syndrome

Vanhu vane Marfan syndrome vanogona kuva nevana zvakanaka here?

Hongu, vanhu vakawanda vane Marfan syndrome vanogona kuva nevana, asi zvinoda kuronga zvakanaka nekutarisa. Vakadzi vane Marfan syndrome vanoda kutarisirwa kwakakosha kwepakutanga nekuti pamuviri unogona kuisa kunetseka kwakawanda pamwoyo neaorta. Chiremba wako achakutarisa pedyo panguva yekuzvitakura uye anogona kukurudzira genetic counseling kukurukura mukana we50% wekupasa chirwere ichi kumwana wako.

Marfan syndrome yakafanana kune munhu wese anewo here?

Kwete, Marfan syndrome inokanganisa vanhu zvakasiyana-siyana, kunyange mumhuri imwe chete. Vamwe vanhu vane zviratidzo zvishoma izvo hazvikanganisi hupenyu hwavo hwezuva nezuva, nepo vamwe vachiona matambudziko makuru. Kuomarara uye kusanganiswa kwezviratidzo kunogona kusiyana zvikuru, ndosaka kutarisirwa kwemishonga kwakakosha kwazvo.

Marfan syndrome inogona kudzivirirwa here?

Sezvo Marfan syndrome iri chirwere chinogara munzira dzekuzvarwa, haigone kudzivirirwa. Nekudaro, kana uine nhoroondo yemhuri yechirwere ichi, genetic counseling inogona kukubatsira kunzwisisa njodzi dzako nesarudzo. Kunyange zvazvo usingakwanisi kudzivirira chirwere icho pachacho, kuonekwa pakutanga nekutarisirwa kwakakodzera kunogona kudzivirira matambudziko mazhinji akakomba acho.

Mitambo nemaitiro api akachengeteka neMarfan syndrome?

Mabasa asingakonzere kukuvadzwa kwakakura senge kushambira, kufamba, kukwira bhasikoro, uye yoga anowanzo chengeteka kune vanhu vane Marfan syndrome. Nekudaro, unofanira kudzivisa mitambo inobatanidza, kukwidza uremu hwakakura, uye mabasa anosanganisira kutanga nekuguma nekukurumidza. Cardiologist yako ichapa mirairo chaiyo zvichienderana nehutano hwako hwemwoyo neaorta.

Nguva dzose vanhu vane Marfan syndrome vanoda kuongororwa kwemishonga here?

Vanhu vakawanda vane Marfan syndrome vanoda echocardiograms pagore kuti vatarisire mwoyo wavo neaorta, pamwe nekuongororwa kwemaziso nguva dzose. Kana uine zviratidzo zvakakomba kana matambudziko, ungada kuongororwa kwakawanda. Timu yako yekurapa ichagadzira purogiramu yakakodzera zvichienderana nezvinodiwa zvako uye njodzi.