Uyafuna ukwazi nge-Marfan Syndrome? Ake sixoxe!

Wake waphawula ukuthi abanye abantu bade kakhulu kunabanye, izitho zabo, iminwe, njll. kubonakala sengathi zinde kunokujwayelekile? Noma banesimo esingavamile sesifuba, noma banezinkinga zokubona? Ngezinye izikhathi, kanye nalezi zimpawu, kungaba nezinkinga ezithile ngenhliziyo namehlo. Yilokho okuyi-Marfan Syndrome. Lesi yisimo sofuzo. Ungakhathazeki, ake sixoxe ngalokhu ngokuningiliziwe.

Iyini i-Marfan Syndrome? Kalula nje...

Kalula nje, i-Marfan Syndrome yisimo sofuzo esithinta izicubu ezixhumene emizimbeni yethu. Manje ungase uzibuze ukuthi iyini izicubu ezixhumene. Cabanga ngakho, izicubu ezixhumeneyo uhlobo olukhethekile lwezicubu ezixhumanisa izingxenye ezahlukene zomzimba wethu, njengesikhumba, amathambo, imithambo yegazi, kanye nama-valve enhliziyo, futhi zisiza ekuzinikeni amandla nokuguquguquka.

Kumuntu one-Marfan syndrome, lesi zicubu ezixhumeneyo sibuthakathaka kancane , futhi siyanwebeka kakhulu . Sifana nebhande lerabha, kodwa sinamandla amancane. Yingakho lesi simo singathinta izinhlelo ezahlukene emzimbeni. Singathinta kakhulu inhliziyo, imithambo yegazi, amehlo, amathambo kanye namalunga .

Odokotela babiza lokhu ngokuthi isimo sofuzo "esinokuguquguquka kokubonakaliswa." Lokhu kusho ukuthi akuwona wonke umuntu onesifo ozoba nezimpawu ezifanayo. Abanye abantu bazoba nezimpawu ezimbalwa kakhulu, kanti abanye bazoba nezinye ezimbalwa. Futhi isikhathi esithathayo ukuze izimpawu zivele singahluka kuye ngomuntu nomuntu.

I-Marfan syndrome yisimo esiba khona lapho uzalwa . Kodwa-ke, ngezinye izikhathi izimpawu ziyavela futhi ungase ube ngumuntu osemusha noma ngaphezulu uma uxilongwa. Ingenye yezinkinga ezivame kakhulu ezizuzwe njengefa zezicubu ezixhumeneyo. Ithinta cishe umuntu oyedwa kubantu abangu-3,000 kuya ku-5,000.

Zingaba yini izimpawu zalokhu?

I-Marfan syndrome inezici ezimbili eziyinhloko. Eyokuqala i-aortic root aneurysm (aortic root aneurysm) . Lokhu ukukhukhumala noma ukunwebeka komthambo wegazi oyinhloko othwala igazi lisuka enhliziyweni yethu liye emzimbeni (i-aorta). Enye ilensi yeso ephukile (ectopia lentis) .

Lezi zici ezimbili eziyinhloko zingabangela ukuthi ube nezimpawu ezifana nalezi:

• Ukushaya kwenhliziyo kuwumuzwa wenhliziyo yakho ishaya ngokushesha kanye nesifuba sakho sishaya ngamandla.
• Ukuzwa inhliziyo yakho ishaya kakhulu futhi ngokushesha.
• Ubuhlungu bamehlo.
• Ubunzima bokuphefumula.
• Ukushintsha kokubona; isibonelo, i-astigmatism kanye nokubona eduze kakhulu.

Kodwa ngenxa yokuthi i-Marfan syndrome ingathinta ezinye izingxenye zomzimba, kungase kube nezinye izimpawu. Isibonelo, izimpawu zomzimba zingase zihlanganise:

• Ubuso bungase bubonakale bubude kancane futhi buncane.
• Izingalo, imilenze, neminwe zibonakala zinde kakhulu uma ziqhathaniswa nezinye izingxenye zomzimba.
• Amazinyo aminyene amazinyo adonswa ndawonye futhi abonakala sengathi abekwe phezu komunye nomunye.
• I-Scoliosis.
• Izinyawo ezisicaba.
• Ubuthakathaka kanye nokuqhekeka kalula kwamalunga.
• Amamaki okwelula avele esikhumbeni noma isisindo somzimba singashintshi kakhulu.
• Isifuba esishonile (i-pectus excavatum) noma isifuba esiphumile (pectus carinatum).
• Umzimba omude, omncane.

Yiziphi izinkinga zalesi simo?

I-Marfan syndrome ingabangela izinkinga ezahlukahlukene ezithinta inhliziyo yakho, amehlo namaphaphu.

Izinkinga zenhliziyo nemithambo yegazi yizona ezivame kakhulu ze-Marfan syndrome. Lezi zingafaka:

• Ukuqhekeka komthambo i-aorta: Lokhu kuwukudabuka kwengqimba engaphakathi yodonga lomthambo i-aorta yakho. Lokhu kuyisimo esiphuthumayo.
• Isifo se-valve yenhliziyo: I-Marfan syndrome ingabangela ukuthi izicubu ezisema-valve enhliziyo zibe buthakathaka futhi ziguquguquke.
• Inhliziyo ekhulisiwe: Ngokuhamba kwesikhathi, imisipha yenhliziyo yakho ingakhula futhi ibe buthaka.
• Ukuphazamiseka kwenhliziyo (i-Arrhythmia): Lesi simo sivame ukuhlotshaniswa nokuwohloka kwe-valve ye-mitral.
• Ama-aneurysms obuchopho: Ukuvuvukala kwendawo ebuthakathaka emthanjeni wegazi ngaphakathi noma eduze kobuchopho.

Izinkinga zamehlo zingafaka:

• Ama-cataract.
• Isimo se-glaucoma.
• Ukuhlukaniswa kwe-retinal.

Izinguquko ezicutshini zamaphaphu ezihambisana ne-Marfan syndrome zingandisa ingozi yalokhu okulandelayo:

• Isifuba somoya.
• I-Bronchitis.
• Isifo samaphaphu esingamahlalakhona (i-COPD).
• Amaphaphu awile/i-pneumothorax.
• I-Emphysema.
• Inyumoniya.

Yini ebangela i-Marfan syndrome?

Lokhu kubangelwa ukuhlukahluka kwezakhi zofuzo . Ngokukhethekile, ushintsho ku-gene - i-FBN1 gene - olutshela amangqamuzana ethu ukuthi enze iphrotheni ebizwa ngokuthi i-fibrillin . Le fibrillin iyisici esiyinhloko semicu enwebekayo ezicutshini zethu ezixhumeneyo.

Ezimweni eziningi, i-Marfan syndrome yisimo esizuzwa njengefa komunye wabazali . Lesi yifa eliyi-autosomal dominant.Isifo esizuzwa njengefa. Okusho ukuthi, lesi simo singabangelwa ukuzuza ifa lesakhi sofuzo kumzali oyedwa. Umuntu one-Marfan syndrome unethuba elingu-50% lokudlulisela lesi sifo ezinganeni zakhe ngazinye.

Kodwa-ke, cishe ezimweni ezingama-25%, lesi simo singabangelwa ushintsho olusha lwezakhi zofuzo (okungekho sizathu esingatholakala), ngaphandle komlando womndeni.

Odokotela bayixilonga kanjani i-Marfan syndrome?

Ngenxa yokuthi i-Marfan syndrome ithinta izicubu eziningi ezahlukene emzimbeni, ungase udinge usizo lwethimba lochwepheshe ukuze uhlole lesi simo futhi uthuthukise uhlelo lokwelapha.

Okokuqala, odokotela benza lezi zinto:

• Buza ngomlando wakho wezokwelapha.
• Kuzohlolwa ngokomzimba ukuze kubonakale ukuthi zikhona yini izimpawu ezivamile zesifo.
• Ukubuza ngezimpawu zakho.
• Buza ukuthi ukhona yini emndenini oke waba nezinkinga zempilo ezihlobene ne-Marfan syndrome.

Odokotela bavame ukusebenzisa isethi yezindlela ezibizwa ngokuthi "i-Ghent nosology" ukuze baxilonge i-Marfan syndrome. Ukuhlolwa okulandelayo kunganconywa ukuqinisekisa ukuxilongwa noma ukuqeda ezinye izimo ezifanayo:

• I-CT scan `(I-computed tomography - I-CT scan)`.
• I-X-ray yesifuba.
• Ukuhlolwa kwe-E.C.G. `(I-Electrocardiogram - ECG)`.
• I-Echocardiogram.
• Ukuskena kwe-MRI (Umfanekiso we-Magnetic resonance - i-MRI)

Ukuhlolwa kofuzo (lokhu ukuhlolwa kwegazi) kungabheka izinguquko ku-FBN1 gene, okuvame ukuba yimbangela ye-Marfan syndrome. Kodwa-ke, imiphumela yalezi zivivinyo zofuzo ayicaci ngaso sonke isikhathi. Lokhu kuhlolwa kungabheka nezinye izimo zofuzo ezibangela izimpawu ezifanayo, njenge-Loeys-Dietz syndrome.

Iphathwa kanjani i-Marfan syndrome?

Akukho ukwelashwa kwe -Marfan syndrome. Kodwa-ke, kunezindlela ezahlukene zokwelapha nezindlela ezingakusiza ukuphatha izimpawu zakho nokuvimbela izinkinga. Lokhu kufaka phakathi:

• Imithi.
• Ukuqapha kwezokwelapha njalo.
• Isiqondiso somsebenzi womzimba.
• Ukuhlinzwa.

Udinga uhlelo lokwelashwa oluqondene ngqo nezinkinga zakho zempilo.

Imithi

Eminye imithi ingasiza ekuvimbeleni noma ekulawuleni izinkinga:

• Ama-Beta-blocker: Lawa avimbela noma anciphisa ukukhula kwemithambo emikhulu. Odokotela batusa ukuqala lokhu kwelashwa kusenesikhathi kubantu abane-Marfan syndrome. Uma ungakwazi ukukuthatha lokhu ngenxa yesimo esifana ne-asthma noma ngenxa yemiphumela emibi, udokotela wakho angakunika i -calcium channel blocker .
• Ama-Angiotensin II receptor blockers (ARBs):Le mithi ingasiza futhi ekunciphiseni izinga lokukhula kwamathumbu amakhulu.

Uma uhlinzwa ivalvu yenhliziyo ngenxa ye-Marfan syndrome, kuzodingeka uphuze imithi yokuvimbela ukugabha kwegazi impilo yakho yonke.

Ukubhekwa njalo kwezokwelapha

Kufanele uhlolwe njalo ngezokwelapha ngalezi zinto:

• Inhliziyo nemithambo yegazi – ikakhulukazi ubukhulu be-diaphragm yakho enkulu.
• Amehlo.
• Uhlelo lwamathambo.

Ngale ndlela, ithimba lakho lezokwelapha lingaqapha izinguquko futhi libone noma yiziphi izinkinga ezingaba khona kusenesikhathi. Bazokutshela ukuthi kufanele ufike kangaki kulezi zivivinyo.

Lokhu kuqapha kuvame ukufaka izivivinyo zesithombe ezifana nalezi:

• Ukuskena kwe-CT.
• Ama-Echocardiogram.
• Izikena ze-MRI.

Isiqondiso somsebenzi womzimba

Umsebenzi womzimba onzima nonzima ungacindezela i-diaphragm yakho nezinye izicubu ezixhumeneyo ezithintekile yi-Marfan syndrome. Ngakho-ke, kufanele usebenzisane nodokotela wezokwelapha ukuze uthole izivivinyo eziphephile nezemidlalo ezifanele wena.

Odokotela bavame ukuncoma ukuzivocavoca okunamandla aphansi kuya kwaphakathi, kodwa uma uke wahlinzwa i-mitral valve noma izimpande ze-valve yakho, kungadingeka ukuthi uvivinye izinga eliphansi nakakhulu.

Ngokuvamile, kufanele ugweme izinto ezifana nalezi:

• Imisebenzi ehilela ukubamba umoya wakho nokuzikhandla ngamandla (i-Valsalva maneuver).
• Xhumana nezemidlalo.
• Ukuzivocavoca kuze kube yilapho ukhathele.
• Ukuzivocavoca okuhilela ukubamba indawo eyodwa isikhathi eside, njengamapulangwe kanye nezihlalo zodonga, kubizwa ngokuthi ukuzivocavoca kwe-isometric.

Ukuhlinzwa kwenhliziyo

Imigomo eyinhloko yokuhlinzwa kwenhliziyo ye-Marfan syndrome ukuvimbela i-aortic valve yakho ukuthi ikhule noma iqhume kanye nokwelapha izinkinga ze-valve. Wena nethimba lakho lezokwelapha nizonquma ndawonye ukuthi udinga ukuhlinzwa yini, ngemva kokucabangela izici eziningana.

Lezi yizindlela zokuhlinzwa ezivame kakhulu ezenziwa nge-Marfan syndrome:

• Ukulungiswa noma ukushintshwa kwevalvu ye-aorta.
• Ukulungiswa kwe-aortic aneurysm ekhuphukayo.
• Ukulungiswa noma ukushintshwa kwevalvu ye-mitral.
• Ukulungiswa kwe-aorta ye-thoracic endovascular.

Uma udinga ukuhlinzwa, zama ukukhetha isibhedlela esikhulu esinolwazi ngohlobo lokuhlinzwa olusebenzayo. Ithimba lakho lokuhlinzwa kufanele futhi libe nokuqonda okuhle nge-Marfan syndrome.

Yini ongayilindela uma uphila ne-Marfan syndrome?

Uma une-Marfan syndrome, kuzodingeka ukuthi ube nezikhathi zokubonana nodokotela njalo futhi uqaphele umzimba wakho. I-Marfan syndrome ayithinti wonke umuntu ngendlela efanayo, ngakho-ke uhambo lwakho nalesi simo luzoba ngolwakho kuphela. Ithimba lakho lezokwelapha lizokusiza ukuthi uzivumelanise nezinguquko esimweni sakho.

Khumbula, awuwedwa. Ithimba lezokwelapha lihlala linawe.

Ngenxa yolwazi olwandisiwe nge-Marfan syndrome kanye nokwelashwa okuthuthukisiwe, abantu abane-Marfan syndrome manje sebephila isikhathi eside kunangaphambi kwawo-1970. Isikhathi sokuphila somuntu one-Marfan syndrome manje sesicishe sifane nesomuntu ongenaso lesi simo. Kodwa-ke, isikhathi sokuphila samadoda sifushane kakhulu kunesabesifazane.

Isifo senhliziyo sisalokhu siyimbangela ehamba phambili yokufa ku-Marfan syndrome. Lokhu kuyiqiniso ikakhulukazi ekufeni okuzumayo okwenzeka lapho lesi sifo singatholakali. Ingozi iphakeme nakulabo abathola ukuxilongwa sekwephuzile.

I-Marfan syndrome kanye nempilo yengqondo

Kunezinto eziningana ezingathinta impilo yakho yengqondo kanye nekhwalithi yokuphila uma uphila ne-Marfan syndrome. Isibonelo:

• I-Marfan syndrome iyisifo esingamahlalakhona futhi sidinga ukwelashwa impilo yonke.
• Indlela lesi simo esithinta ngayo ukubukeka kwakho.
• Ubuhlungu obungapheli kanye nokukhathala.
• Imikhawulo emisebenzini yomzimba (lokhu kuvame ukuthinta nobudlelwano bezenhlalo).
• Ingcindezi yokuhlela umndeni.

Ngenxa yalokhu, ungase ube sengozini enkulu yezinto ezifana nalezi:

• Ukukhathazeka.
• Ukucindezeleka.
• Ukubhekana nokuxhashazwa abanye.
• Ukuzihlukanisa emphakathini.

Abanakekeli kanye namalungu omndeni wabantu abane-Marfan syndrome nabo basengozini yokuthola lezi zinkinga zempilo yengqondo.

Impilo yakho yengqondo ibaluleke njengempilo yakho engokomzimba.

Uma uzizwa ucindezelekile ngenxa ye-Marfan syndrome, ungakhohlwa ukufuna usizo kuchwepheshe wezempilo yengqondo, njengososayensi wengqondo . Ungase ukuthole kuwusizo futhi ukujoyina iqembu lokusekelana.

Impilo ene-Marfan syndrome ingazwakala njengomnyango ojikelezayo wezikhathi zokuqokwa, ukwelashwa, kanye nokushintsha kwendlela yokuphila. Kodwa ukuhlolwa ngakunye kanye nezikhathi zokuqokwa ngakunye kukusiza ugweme izinkinga ezivela ku-Marfan syndrome futhi uphile impilo enempilo ngangokunokwenzeka. Ithimba lakho lezokwelapha linawe kukho konke lokhu. Thola ukwesekwa nesiqondiso sabo. Uma uzizwa sengathi ukhungathekile ngakho konke lokhu, funa usizo kuchwepheshe wezempilo yengqondo.

Izinto ezibaluleke kakhulu okufanele uzikhumbule (Umyalezo Wokuya Ekhaya)

Kulungile, ake sibheke amanye amaphuzu abalulekile okudingeka uwakhumbule kulokho esikhulume ngakho:

• I-Marfan syndrome iyisimo esibangelwa izakhi zofuzo., kuthinta izicubu zomzimba wethu ezixhumeneyo.
• Lokhu kungathinta izindawo ezahlukene njengenhliziyo, amehlo, namathambo. Kubaluleke kakhulu ukuhlolwa njalo kwezokwelapha .
• Nakuba kungekho ikhambi eliphelele lalokhu, kunezindlela zokwelapha ezinhle zokulawula izimpawu nokuvimbela izinkinga.
• Landela imiyalelo kadokotela wakho ngqo. Thatha imithi yakho ngesikhathi bese uthola izivivinyo otshelwe zona.
• Kufanele uqaphele kakhulu lapho wenza imisebenzi yomzimba. Buza udokotela wakho noma uchwepheshe wezokwelapha ukuthi yikuphi ukuvivinya umzimba okukufanele.
• Nakekela impilo yakho yengqondo futhi. Unganqikazi ukufuna usizo uma uludinga.
• Awuwedwa, unethimba lezokwelapha, umndeni, nabangani abazokusiza.

Ngiyethemba ukuthi lolu lwazi luzokusiza. Uma uneminye imibuzo, ungangabazi ukubuza udokotela wakho.

I- Marfan Syndrome, isifo sofuzo, izicubu ezixhumeneyo, isifo senhliziyo, amathambo, amehlo, i-fibrillin