Uyini i-Marfan Syndrome? Izimpawu, Izimbangela, Nokwelashwa

I-Marfan syndrome iyisimo sezofuzo esithinta i-connective tissue yomzimba wakho - "unamathiselo" oluhlanganisa amalungu akho, amathambo, nemithambo yegazi. Cabanga nge-connective tissue njengesisakhiwo esinikeza umzimba wakho isakhiwo nokusekelwa, njengoba ama-steel beams esekela isakhiwo.

Lesi simo sihlukanisa izingxenye eziningi zomzimba wakho ngoba i-connective tissue ikhona yonke indawo. Inhliziyo yakho, imithambo yegazi, amathambo, izikhonkwane, namehlo akho konke kuyaqaphela i-connective tissue enempilo ukuze isebenze kahle. Nakuba i-Marfan syndrome ingavamile, ithinta cishe umuntu omunye ku-5,000, ukuyiqonda kungakusiza ukuthi uqaphele izimpawu ezibalulekile futhi ufuna ukunakekelwa okufanele.

Ziyini izimpawu ze-Marfan syndrome?

Izimpawu ze-Marfan syndrome zihluka kakhulu kumuntu nomuntu, ngisho nasemhlabeni omkhulu. Abanye abantu banezimpawu ezilula ezingathinti impilo yabo yansuku zonke, kanti abanye babhekana nezinguquko ezibonakalayo ezidinga ukunakekelwa kwezokwelapha.

Izimpawu ezivamile ongaziqaphela zihlanganisa ukuba mde kakhulu futhi unqunu, uneengalo ezinde, imilenze, neminwe. Ubude beengalo zakho bungaba bukhulu kunokude kwakho, futhi imilenze yakho ingaba de kangangokuthi uma uyifaka esihlakala sakho, i-thumb ne-pinky finger zihlangana.

Nawa ama-area aphambili lapho izimpawu zivame ukubonakala khona:

• Izici ze-Skeletal: Ukuphakama okuphezulu, imilenze neminwe emide, i-spine egubekile (scoliosis), isifuba esingena noma esiphuma, izinyawo ezilinganayo, izikhonkwane eziphumulekile
• Inhliziyo nemithambo yegazi: I-heart murmur, ukushaya kwenhliziyo okusheshayo, ukuphefumula okunzima ngesikhathi somsebenzi, ubuhlungu besifuba, ukudideka
• Amehlo: Ukubona okuqonde kakhulu, ukukhishwa kwe-lens, i-cataracts yasekuqaleni, i-retina ehlukile
• Isikhumba ne-tissue: Izimpawu zokwelula ezingahlobene nezinguquko zesisindo, isikhumba esithambile esilula ukulunywa, i-hernias
• Uhlelo lwezinzwa: Ubunzima bokufunda, izinkinga zokuqaphela, ukulibaziseka kokukhuluma (okungavamile)

Kubalulekile ukukhumbula ukuthi ukuba no-one noma amabili ala ma-features akusho ukuthi une-Marfan syndrome. Abantu abaningi ba-mde ngokwemvelo noma baneeminwe emide ngaphandle kokuba naleli simo.

Yini ebangela i-Marfan syndrome?

I-Marfan syndrome iyenzeka ngenxa yezinguquko ku-gene ethile ebizwa nge-FBN1. Le gene inikeza umzimba wakho imiyalo yokwenza i-protein ebizwa nge-fibrillin-1, ebalulekile kwi-connective tissue enempilo.

Uma i-FBN1 gene inenkinga, umzimba wakho uthola i-fibrillin-1 encane kakhulu noma uthola inguqulo ephosakele yayo. Ngaphandle kwe-fibrillin-1 enhle, i-connective tissue yakho iba buthakathaka futhi inwebeka kakhulu kunokuba kufanele.

Cishe u-75% wabantu abane-Marfan syndrome bayazuza lesi simo kumzali onalesi simo. Uma omunye umzali enesimodele se-Marfan, umntwana ngamunye unethuba elilingana no-50% lokuzuza ushintsho lwezofuzo. I-25% esele yalezi zimo iyenzeka lapho ushintsho lwezofuzo luvela ngokungazelelwe, okusho ukuthi akukho mzali onalesi simo.

Lesi shintsho esingalindelekile singenzeka kunoma ubani, kungakhathaliseki umlando womndeni, iminyaka, noma indlela yokuphila. Akubangelwa yilutho abazali abalwenzile noma abangazange balwenze ngesikhathi sokukhulelwa.

Nini kufanele ubona udokotela nge-Marfan syndrome?

Kufanele ucabange ukuya kudokotela uma uqaphela izici eziningi ezihlobene ne-Marfan kuwe noma kumntanakho. Ukutholakala kwasekuqaleni kungasindisa impilo ngoba ezinye izinkinga, ikakhulukazi ezihlobene nenhliziyo, zingaba nzima uma zingaphathwa.

Funani ukunakekelwa kwezokwelapha ngokushesha uma uhlushwa ubuhlungu besifuba, ukuphefumula okunzima kakhulu, ukushaya kwenhliziyo okungavamile, noma izinguquko eziqonde ngesikhathi esisodwa. Lezi zimpawu zingabonisa izinkinga ezinkulu ezidinga ukunakekelwa okusheshayo.

Ukuhlolwa okuvamile, cabanga ukuhlela i-appointment uma unemlando womndeni we-Marfan syndrome, ngisho noma ungenawo ama-symptoms acacile. Ngezinye izikhathi lesi simo singaba silula futhi singaphawulwe iminyaka eminingi.

Kuhlakaniphe futhi ukubonisana nodokotela uma uhlela ukuba nezingane futhi une-Marfan syndrome emndenini wakho. Ukubonisana kwezofuzo kungakusiza ukuthi uqonde ingozi nezinketho ezikhona kuwe.

Ziyini izimbangela zengozi ze-Marfan syndrome?

Imbangela enkulu yengozi ye-Marfan syndrome ukuba nomzali onalesi simo. Njengoba kulandela iphethini ye-autosomal dominant, udinga ikhophi eyodwa nje ye-gene eshintshile ukuze uthuthukise lesi simo.

Kodwa-ke, ukungabi nomlando womndeni akusho ukuthi uphephile ngokuphelele ekuthuthukiseni i-Marfan syndrome. Cishe umuntu o-1 ku-4 onalesi simo akanamlando womndeni, okusho ukuthi ushintsho lwawo lwezofuzo lwenzeke ngokungazelelwe.

Iminyaka ephakeme yabazali, ikakhulukazi oboyise abadala, ingase ikhulise kancane ingozi yezinguquko zezofuzo ezingalindelekile, kodwa le ngozi isancane kakhulu. Lesi simo sithinta izinhlanga zonke futhi kokubili amadoda nabesifazane ngokulinganayo.

Ziyini izinkinga ezingaba khona ze-Marfan syndrome?

Nakuba abantu abaningi abane-Marfan syndrome baphila impilo egcwele, esebenzayo, lesi simo singabangela izinkinga ezinkulu uma singaphathwa kahle. Izinkinga ezinkulu kakhulu zivame ukubandakanya inhliziyo yakho nemithambo yegazi.

Nawa ama-complications aphambili okumele uwaqaphele:

• Ukukhula kwe-Aorta: I-aorta yakho (umthambo omkhulu ovela enhliziyweni yakho) ingase inwebe futhi ibe buthakathaka, okungenzeka kube yingozi yokuphazamiseka okubulalayo
• Izinkinga ze-valve yenhliziyo: Ama-valve angase angavalwa kahle, okubangela igazi liphinde libuyele emuva
• Izinkinga zokubona: Ukukhishwa kwe-lens, ukuhlukana kwe-retina, noma i-glaucoma yasekuqaleni kungathinta ukubona kwakho
• Izinkinga ze-Spinal: I-scoliosis enzima ingadinga ukuhlinzwa futhi ingathinta ukuphefumula
• Izinkinga ze-Lung: I-lung ewa (pneumothorax) ingenzeka, ikakhulukazi kubantu abade, abanqunu

Izindaba ezinhle ukuthi ngokubeka iliso okufanele nokuphathwa, izinkinga eziningi zingaqalekelwa noma ziphathwe kahle. Ukuhlolwa okuvamile ochwepheshe kungabamba izinkinga kwasekuqaleni lapho zitholakala khona.

I-Marfan syndrome ihlonishwa kanjani?

Ukuhlonishwa kwe-Marfan syndrome kudinga ukuhlolwa okuphelele ngoba akukho ukuhlolwa olulodwa olungaqinisekisa lesi simo. Udokotela wakho uzosebenzisa izindinganiso ezimiswe ezibuka umlando womndeni wakho, izici zomzimba, nemiphumela yokuhlolwa ehlukahlukene.

Inkqubo yokuhlola ivame ukubandakanya ukuhlolwa komzimba okuningiliziwe lapho udokotela wakho elinganisa izilinganiso zomzimba wakho futhi ebuka izici ezibonakalayo. Bazohlola uhlelo lwakho lwe-skeletal, isikhumba, nobukhulu bomzimba.

Ukuhlolwa okukhethekile kusiza ukuqinisekisa ukuhlonishwa. I-echocardiogram ihlola inhliziyo yakho ne-aorta, kanti ukuhlolwa kwamehlo ngudokotela we-ophthalmologist kuqapha izinkinga ze-lens nezinye izinkinga zokubona. Udokotela wakho angase futhi ahlele izifundo zokuthola izithombe ze-spine nezingxenye zomzimba.

Ukuhlolwa kwezofuzo kungabonisa izinguquko ku-FBN1 gene, nakuba kungadingeki njalo ukuze kuhlonishwe. Ngezinye izikhathi izici zezokwelapha zicacile ngokwanele ukwenza ukuhlonishwa ngaphandle kokuhlolwa kwezofuzo.

Uyini ukwelashwa kwe-Marfan syndrome?

Ukwelashwa kwe-Marfan syndrome kugxila ekulawuleni izimpawu nokuvimbela izinkinga kunokwelapha lesi simo ngokwalo. Umgomo ukukusiza ukuba uphile ngokujwayelekile ngangokunokwenzeka ngenkathi uvikela amalungu akho abuthakathaka kakhulu.

Iqembu lakho lokunakekelwa lizohlanganisa ochwepheshe abaningi abasebenza ndawonye. I-cardiologist ibeka iliso enhliziyweni yakho nemithambo yegazi, kanti i-ophthalmologist ibeka iliso emehlweni akho. Ochwepheshe be-orthopedic bangasiza ngezinkinga zamathambo nezokuxhumana.

Izindlela zokwelapha zihlanganisa:

• Imithi: Ama-beta-blockers noma ama-ARBs ukuvikela i-aorta yakho nokunciphisa ukucindezeleka kwenhliziyo
• Ukuhlinzwa: Ukulungiswa kwe-Aorta, ukufakwa kwe-valve yenhliziyo, noma ukulungiswa kwe-scoliosis uma kudingeka
• Ukuguqulwa komsebenzi: Ukugwema imidlalo yokuxhumana nokuphakamisa okunzima ukuvikela inhliziyo yakho nemithambo yegazi
• Ukubeka iliso okuvamile: Ukuthola izithombe okuvamile nokuhlolwa ukuze kubanjwe izinkinga kwasekuqaleni
• Ukulungiswa kokubona: Izikhombisi, ama-contact lenses, noma ukuhlinzwa ngezinkinga zamehlo

Abantu abaningi abane-Marfan syndrome bangabamba iqhaza emisebenzini enokuthinta okuncane njengokubhukuda, ukuhamba ngebhayisikili, noma ukuhamba. Udokotela wakho uzokusiza ukuthi unqume ukuthi yimiphi imisebenzi ephephile esimweni sakho esithile.

Indlela yokuphatha i-Marfan syndrome ekhaya?

Ukuphila kahle ne-Marfan syndrome kuhilela ukwenza izinqumo ezinhle zokuphila nokuzinikela ehlelweni lakho lokwelapha. Izinqumo ezincane zansuku zonke zingenza umehluko omkhulu empilweni yakho yesikhathi eside nekhwalithi yempilo.

Gxilisa ekutholeni isisindo esinempilo ukuze unciphise ukucindezeleka ezikhonkweni zakho nasesimisweni sakho sokuhamba kwegazi. Ukudla ukudla okulinganiselayo okunama-calcium nama-vitamin D okwanele kusekela impilo yamathambo, okubalulekile ikakhulukazi ngezici ze-skeletal zalesi simo.

Hlala usebenza ngemisebenzi evunyelwe njengokubhukuda, ukuhamba, noma i-yoga. Le misebenzi ingasiza ekuqondeni amandla emisipha nokuguquguquka ngaphandle kokubeka ukucindezeleka okukhulu kwi-connective tissue yakho.

Vikele amehlo akho ngokugqoka izibuko zokukhanya kwelanga nokuthola ukuhlolwa kwamehlo okuvamile. Uma unezinkinga zokubona, qiniseka ukuthi i-prescription yakho iphelele futhi cabanga ukugqoka izibuko zokuvikela ngesikhathi semisebenzi.

Thatha imithi yakho ngokuqondile njengoba kulotshwe futhi ugcine yonke i-appointment yokulandelela. Ungaphuthi ama-doses noma uyeke imithi ngaphandle kokukhuluma nodokotela wakho kuqala, ngisho noma uzizwa kahle.

Kufanele ulungiselele kanjani i-appointment yakho yedokotela?

Ukulungiselela i-appointment yakho kusiza ukuqinisekisa ukuthi uthola okuningi ngesikhathi sakho nodokotela wakho. Qala ngokuqoqa ulwazi mayelana nomlando wezokwelapha womndeni wakho, ikakhulukazi noma yimiphi izihlobo ezine-Marfan syndrome noma ukufa kwenhliziyo okungazelelwe.

Yenza uhlu lwezimpawu zakho zonke, ngisho noma zibonakala zingahlobene. Faka lapho zaqala khona, zingaki zivele, nokuthi yini ezenza zibe ngcono noma zimbi. Ungakhohlwa ukukhuluma nganoma yiziphi izinguquko zokubona, ubuhlungu bezikhonkwane, noma ubunzima bokuphefumula.

Letha uhlu oluphelele lwemithi, izithasiselo, nama-vitamin owathathayo. Faka umthamo kanye nokuvamile kwakho ngakunye. Uma uthatha imithi eminingi, cabanga ukuletha amabhodlela angeziwe ukuze ugweme ukuphazamiseka.

Lungiselela imibuzo kusengaphambili. Ungase ufune ukubuza ngokumisa imisebenzi, ukuthi nini kufanele uhlele ukuvakasha okulandelayo, noma yiziphi izimpawu ezifanele zikhuthaze ukunakekelwa kwezokwelapha okusheshayo.

Cabanga ukuletha ilungu lomndeni noma umngani ukuze akusize ukukhumbula ulwazi olubalulekile futhi unikeze ukwesekwa ngokomzwelo ngesikhathi se-appointment.

Uyini umqondo oyinhloko mayelana ne-Marfan syndrome?

I-Marfan syndrome iyisimo sezofuzo esilawuleka esithinta i-connective tissue kulo lonke umzimba wakho. Nakuba idinga ukubekwa iliso nokukhathalelwa okuphila konke, abantu abaningi abane-Marfan syndrome bangaphila impilo egcwele, ezuzisayo ngokuphathwa okufanele kwezokwelapha.

Into ebaluleke kakhulu okumele uyikhumbule ukuthi ukutholakala kwasekuqaleni nokukhathalelwa okulandelayo okuvamile kungavimbela izinkinga ezinkulu. Uma ucindezela ukuthi wena noma ilungu lomndeni ungase ube ne-Marfan syndrome, ungangabazi ukufuna ukuhlolwa kwezokwelapha.

Ukusebenza eduze neqembu lakho lokukhathalela kwezokwelapha, ukuhlala unolwazi ngesimo sakho, nokulandela uhlelo lwakho lokwelapha yizithulu zakho ezinhle kakhulu zokuphila kahle ne-Marfan syndrome. Khumbula ukuthi ukuba naleli simo akuhlukumi - kungumongo owodwa wempilo yakho odinga ukunakekelwa nokukhathalelwa.

Imibuzo evamile ebuzwa mayelana ne-Marfan syndrome

Bangaba nezingane ngokuphephile yini abantu abane-Marfan syndrome?

Yebo, abantu abaningi abane-Marfan syndrome bangaba nezingane, kodwa kudinga ukuhlela okucophelelayo nokubeka iliso. Abafazi abane-Marfan syndrome badinga ukunakekelwa okukhethekile kokukhulelwa ngoba ukukhulelwa kungase kubeka ukucindezeleka okukhulu enhliziyweni nase-aorta. Udokotela wakho uzokubeka iliso eduze kulo lonke ukukhulelwa futhi angase akhuthaze ukubonisana kwezofuzo ukuze uxoxe ngethuba elilingana no-50% lokudlulisa lesi simo kumntanakho.

Ingabe i-Marfan syndrome ifana kubo bonke abayinayo?

Cha, i-Marfan syndrome ibathinta abantu ngezindlela ezihlukahlukene kakhulu, ngisho nasemhlabeni omkhulu. Abanye abantu banezimpawu ezilula ezingathinti impilo yabo yansuku zonke, kanti abanye babhekana nezinkinga ezinkulu. Ubunzima kanye nokuhlanganiswa kwezimpawu kungase kuhluke kakhulu, kungakho ukunakekelwa kwezokwelapha okuqondene nomuntu kubalulekile kangaka.

Ingavikelwa yini i-Marfan syndrome?

Njengoba i-Marfan syndrome iyisimo sezofuzo, ayikwazi ukuvinjelwa. Kodwa-ke, uma unemlando womndeni waleli simo, ukubonisana kwezofuzo kungakusiza ukuthi uqonde ingozi nezinketho zakho. Nakuba ungakwazi ukuvimbela lesi simo ngokwalo, ukutholakala kwasekuqaleni nokuphathwa okufanele kungavimbela izinkinga eziningi ezinkulu.

Imiphi imidlalo nemisebenzi ephephile nge-Marfan syndrome?

Imisebenzi enokuthinta okuncane njengokubhukuda, ukuhamba, ukuhamba ngebhayisikili, ne-yoga ngokuvamile iphephile kubantu abane-Marfan syndrome. Kodwa-ke, kufanele ugweme imidlalo yokuxhumana, ukuphakamisa isisindo esikhulu, nemisebenzi ehilela ukuqala nokuma okungazelelwe. I-cardiologist yakho izonikeza imiyalo ekhethekile ngokusekelwe esimweni sakho senhliziyo ne-aorta.

Zingaki izikhathi abantu abane-Marfan syndrome abadinga ukuhlolwa kwezokwelapha?

Abantu abaningi abane-Marfan syndrome badinga ama-echocardiograms minyaka yonke ukuze babeke iliso enhliziyweni yabo ne-aorta, kanye nokuhlolwa kwamehlo okuvamile. Uma unezimpawu noma izinkinga ezinkulu, ungase udinga ukubekwa iliso okuvamile. Iqembu lakho lokukhathalela kwezokwelapha lizokwenza isimiso esiqondene nomuntu ngokusekelwe ezidingweni zakho nezimbangela zengozi.