Ingabe nawe uzizwa sengathi umude kakhulu futhi unezingalo nemilenze emide kunabangane bakho? Noma ingabe amalunga akho aphuka kalula? Wake wagqoka izibuko kusukela ebuntwaneni? Uma enye noma ngaphezulu yalezi zinto isebenza kuwe, kungaba kubaluleke kakhulu ukuthi uqaphele isimo esikhuluma ngaso namuhla, esibizwa ngokuthi i-Marfan Syndrome. Nakuba lokhu kungajwayelekile kancane, ake sixoxe ngakho kalula.
Kalula nje, iyini i-Marfan Syndrome?
Cabanga ngemizimba yethu njengesakhiwo esakhiwe kahle. Izitini, izindonga, nophahla lwalesi sakhiwo kuhlanganiswe ndawonye futhi kwenziwa kuqine ngodaka lukasimende. Ngokufanayo, kukhona uhlobo olukhethekile lwezicubu oluxhumanisa yonke into emzimbeni wethu, njengezitho zomzimba, amathambo, imisipha, nemithambo yegazi, futhi luzinike amandla nokuguquguquka ezikudingayo. Kwezokwelapha, lokhu sikubiza ngokuthi "izicubu ezixhumeneyo." Lezi zifana 'nensini' emzimbeni wethu.
I-Marfan Syndrome yisimo esibangelwa ufuzo. Umuntu onalesi simo unezicubu ezixhumene ezibuthakathaka, noma ngokunembile, ezikhululekile kakhulu. Lokhu kusho ukuthi izicubu ezixhumene azinamandla futhi azinwebeki kahle. Ngenxa yokuthi le zicubu ezixhumene zitholakala kuwo wonke umzimba, i-Marfan Syndrome ingathinta izingxenye eziningana zomzimba wethu. Ingathinta kakhulu inhliziyo, imithambo yegazi, amehlo, amathambo, kanye namalunga .
Nakuba lesi kuyisimo sokuzalwa, ngezinye izikhathi izimpawu ziyavela futhi ukuxilongwa kwenziwa esemncane.
Zingaba yini izimpawu zalokhu?
Into ebalulekile okufanele uyiqonde lapha ukuthi akuwona wonke umuntu one-Marfan Syndrome ozoba nezimpawu ezifanayo. Ziyahlukahluka kakhulu kumuntu nomuntu. Abanye abantu bangase babe nezimpawu eziningi, kanti abanye bangase babe nezimbalwa kuphela. Yingakho odokotela bebiza lesi simo ngokuthi "ukubonakaliswa okuguqukayo."
Nokho, kunezici ezithile ezivamile ezingabonakala. Ake sizihlukanise zibe izingxenye ezimbili.
| Izici ezimbili eziyinhloko ze-Marfan Syndrome | |
|---|---|
| I-Aortic root aneurysm | I-aorta iwumthambo wegazi omkhulu kunayo yonke othwala igazi lisuka enhliziyweni yethu liye emzimbeni wethu wonke. Ingxenye yokuqala yayo, exhuma enhliziyweni, ingaba buthakathaka futhi ivuvuke futhi ivuleke njengebhaluni. Lolu uphawu oluyingozi kakhulu lwalesi sifo. |
| I-Ectopia lentis (ukususwa kwelensi yeso) | Ilensi engaphakathi kwamehlo ethu, ngenxa yobuthakathaka bemicu ethambile eyibamba endaweni yayo, ingahamba kancane ukusuka lapho kufanele ibe khona. Lokhu kubangela ukukhubazeka kokubona. |
Ngaphezu kwalezi zici ezimbili eziyinhloko, ezinye izici ezihlobene nokubukeka komzimba zivame ukubonakala.
| Izici ezivamile ezihlobene nokubukeka komzimba | |
|---|---|
| Uhlobo lomzimba | Ukuba nomzimba omude futhi omncane ngendlela engavamile. |
| Izandla, izinyawo, iminwe | Izingalo, imilenze, izandla, kanye neminwe emide ngendlela engavamile uma kuqhathaniswa nezinye izingxenye zomzimba. |
| Ubuso | Ubuso obude, obuncane. |
| Umgogodla | I-Scoliosis. |
| Isifuba | Ithambo lesifuba elishone ngaphakathi (Pectus excavatum) noma eliphumela ngaphandle (Pectus carinatum). |
| Ukuhlangana | Amalunga aguquguquka kakhulu futhi athambekele ekuqhekekeni. |
| Izinyawo | Izinyawo ezisicaba. |
| Amazinyo | Amazinyo aminyene ngenxa yokuntuleka kwesikhala emlonyeni. |
| Isikhumba | Amamaki okwelula avela ebusweni besikhumba ngisho nangaphandle kokushintsha kwesisindo somzimba. |
Yiziphi izinkinga ezingase zivele ngenxa ye-Marfan Syndrome?
Uma lesi simo singaphathwa kahle, izinkinga ezinkulu zingavela ngokuhamba kwesikhathi.
Imiphumela engaba khona enhliziyweni nasemithanjeni yegazi
Lezi yizinkinga ezidinga ukunakwa kakhulu ku-Marfan Syndrome.
- Ukusikwa kwe-aorta: Lesi yisimo esiyingozi kakhulu. Udonga lwe-aorta lwakhiwe ngezingqimba eziningana. Ukudabuka okungazelelwe kwengqimba yangaphakathi yalolu donga kungabangela ukuthi igazi livuza phakathi kwezingqimba. Lesi yisimo esisongela ukuphila esidinga ukuhlinzwa okuphuthumayo.
- Isifo se-valve yenhliziyo: Ama-valve enhliziyweni aba buthakathaka futhi angase angavaleki kahle, okuvumela igazi ukuthi livuze emuva.
- Inhliziyo ekhulisiwe: Imisipha yenhliziyo ingakhula futhi ibe buthaka ngoba inhliziyo kufanele isebenze kanzima ngokuhamba kwesikhathi.
- Ukungalingani kwenhliziyo (i-Arrhythmia): Ukushaya kwenhliziyo kungase kungabi ngendlela evamile.
- Ama-aneurysms obuchopho: Indawo ebuthakathaka emthanjeni wegazi osebuchosheni noma ozungezile ingavuvukala njengebhaluni.
Imiphumela emehlweni
- Ama-cataract
- I-Glaucoma
- Ukuhlukaniswa kwe-retinal
Imiphumela emaphashini
Ubuthakathaka bezicubu ezixhumeneyo nakho kungathinta amaphaphu.
- Isifuba somoya
- Ukutheleleka kwamaphaphu (i-Bronchitis, i-Pneumonia)
- Amaphaphu aqulekile (i-Pneumothorax)
Kubaluleke kakhulu ukuhlala uqaphile futhi uhlolwe ngokwezokwelapha ukuze uthole izinkinga ezihlobene nenhliziyo kanye ne-aorta ku-Marfan Syndrome.
Kungani kwenzeka i-Marfan Syndrome? Iyini imbangela?
Isizathu esiyinhloko salokhu ukuguquka kwezakhi zofuzo. I-Fibrillin-1, etholakala ezicutshini zomzimba wethu.Kukhona i-gene elawula ukukhiqizwa kweprotheni ebizwa ngokuthi i-``fibrillin.'' Ibizwa ngokuthi i-``FBN1'' gene. Abantu abane-Marfan Syndrome banoshintsho oluthile, noma isici (uhlobo), kule gene ye-``FBN1''. Lokhu kubangela ukuthi umzimba ukhiqize iphrotheni ye-``FBN1'' ebuthakathaka.
- Ngokuvamile (cishe u-75%) isakhi sofuzo esinenkinga sizuzwa njengefa kumzali oyedwa. Uma noma yimuphi umzali enalesi simo, ingane ngayinye inethuba elingu-50% lokuthola lesi simo njengefa.
- Ezimweni ezingama-25% ezisele, ingane ingase ibe nalolu shintsho lwezakhi zofuzo ngisho noma abazali bengenalo lolu hlobo lwesifo. Imbangela eqondile ayikatholakali.
Odokotela bakuthola kanjani lokhu?
Ngenxa yokuthi i-Marfan Syndrome ithinta izingxenye eziningi zomzimba, kungathatha ithimba lodokotela abavela kochwepheshe abahlukene ukuze bathole ukuxilongwa okunembile. Udokotela wakho ngokuvamile uzolandela lezi zinyathelo:
- Ukubuza ngomlando wakho wezokwelapha kanye nezimpawu: Ukubuza nganoma yikuphi ukungakhululeki obhekene nakho, izinkinga zokubona, noma ubuhlungu bamalunga.
- Ukuhlolwa okuphelele ngokomzimba: kulinganisa ukuphakama, isisindo, ubude bezitho, ukuthi kukhona yini ubuhlungu emhlane, kanye nesimo sesifuba.
- Ukubuza ngomlando wezokwelapha womndeni: Ukubuza ngezinto ezifana nokuthi ukhona yini emndenini oke waba nalezi zimpawu, noma ukuthi ukhona yini oshonile ngenxa yokuma kwenhliziyo okungazelelwe.
- Ukudluliselwa kokuhlolwa okukhethekile:
- I-Echocardiogram (Ukuhlolwa kwe-Echo): Lolu ukuhlolwa okubaluleke kakhulu. Kungahlola isimo senhliziyo ne-aorta, kanye nokusebenza kwama-valve.
- I-Electrocardiogram (ECG): Hlola ukungalingani kwesigqi senhliziyo.
- Izikeni ze-CT noma ze-MRI: Bheka ubude bonke be-aorta kanye neminye imithambo yegazi ngokuningiliziwe.
- Ukuhlolwa kwamehlo: Thola indawo yelensi yeso kanye nezinye izinkinga.
- Ukuhlolwa kofuzo: Isampula yegazi ingathathwa ukuze kutholakale ukuthi kukhona yini iphutha ku-gene `ye-FBN1`.
Yiziphi izindlela zokwelapha lokhu?
Okokuqala, ayikho ikhambi le-Marfan Syndrome. Kodwa ungakhathazeki. Kungenzeka ukuyiphatha kahle, uvimbele izinkinga, futhi uphile impilo evamile nenempilo. Umgomo oyinhloko wokwelashwa ukulawula izimpawu nokuvimbela izinkinga eziyingozi.
Imithi
- Ama-Beta-blocker: Le mithi yehlisa izinga lokushaya kwenhliziyo kancane, yehlise umfutho wegazi, futhi yehlise ingcindezi ku-aorta. Lokhu kunganciphisa izinga lokwanda kwe-aorta.
- Ama-Angiotensin II Receptor Blockers (ARBs): Le mithi iyasiza futhi ekuvikeleni i-aorta.
Ukuqapha Okuvamile
Lena yingxenye ebaluleke kakhulu yokuphatha. Kufanele ubonane nodokotela njalo bese uhlolwa.
- Inhliziyo nemithambo yegazi: Ukuhlolwa kwe-echo kwenziwa okungenani kanye ngonyaka ukuhlola izinguquko ngobukhulu be-aorta.
- Amehlo: Kufanele uhlolwe amehlo akho njalo ngudokotela wamehlo.
- Uhlelo lwamathambo: Udinga futhi ukunaka izinto ezifana nomgogodla wakho.
Iseluleko ngomsebenzi womzimba
Ukuzivocavoca umzimba kuhle kumuntu one-Marfan Syndrome, kodwa akuwona wonke ukuzivocavoca okuhle. Ukuzivocavoca okunamandla kungacindezela i-aorta. Ngakho-ke, kubalulekile ukukhuluma nodokotela wakho ukuze uthole ukuthi yikuphi ukuzivocavoca okufanele wena.
| Imisebenzi efanele (ngokuvamile) | Izinto okufanele uzigweme/ongazenzi |
|---|---|
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Ukuhlinzwa Kwenhliziyo
Uma i-aorta iba banzi ngendlela eyingozi, odokotela bangase batuse ukuhlinzwa ukuze kususwe ingxenye ebuthakathaka bese kufakwa i-graft ngaphambi kokuba iqhume. Uma ama-valve enhliziyo onakele, ukuhlinzwa kungenziwa ukuze kulungiswe noma kufakwe amanye.
Impilo kanye nempilo yengqondo nge-Marfan Syndrome
Ukuphila ne-Marfan Syndrome kungaba nzima ngezinye izikhathi. Ukuhlala ubona odokotela, ukuphuza imithi, nokwenza izinguquko endleleni yokuphila kungaba yinto ekhathazayo.
Futhi okunye,
- Ukucabanga ngokubukeka komzimba wakho kungabangela ukukhathazeka.
- Ubuhlungu nokukhathala njalo komzimba.
- Uma ungakwazi ukudlala ezemidlalo, ukugijima, nokudlala njengabanye abantu, ungazizwa sengathi uhlukanisiwe nabanye abantu.
- Izinto ezifana nekusasa nokuqala umndeni zingadala ukwesaba.
Ngenxa yalezi zizathu, kunengozi yokuthola izinkinga zengqondo njengokukhathazeka nokucindezeleka .
Khumbula, impilo yakho yengqondo ibaluleke njengempilo yakho yomzimba. Uma uzizwa ucindezelekile noma ukhathazekile, khuluma nomuntu omethembayo. Uma kudingeka, ungalokothi unqikaze ukufuna usizo kudokotela wezifo zengqondo noma umeluleki.
Ngenxa yolwazi esinalo nge-Marfan Syndrome kanye nokwelashwa okusha, isikhathi sokuphila somuntu onalesi simo manje sesifana kakhulu nesomuntu ojwayelekile. Into ebaluleke kakhulu ukuhlonza lesi sifo kusenesikhathi bese usiphatha kahle.
Umlayezo Wokuya Nawe Ekhaya
- I-Marfan Syndrome yisimo sofuzo esenza buthaka izicubu ezixhumeneyo emzimbeni wethu.
- Izici eziyinhloko ubude obungavamile, umzimba omncane, izitho ezinde, amalunga axegayo, nezinkinga zokubona.
- Inkinga eyingozi kakhulu yalesi sifo ingozi yokwanda nokuqhekeka kwe-aorta.
- Nakuba kungekho ikhambi eliphelele lalokhu, kungaphathwa kahle kakhulu futhi impilo enempilo ingaholwa ngemithi, ukuqapha njalo kwezokwelapha (ikakhulukazi ukuhlolwa kwe-echo), kanye nokushintsha indlela yokuphila.
- Uma usola ukuthi wena noma othile emndenini wakho unalezi zimpawu, bona udokotela wakho ngokushesha ukuze uxoxe ngazo. Ukutholwa kusenesikhathi kubaluleke kakhulu.
- Nakekela impilo yakho yengqondo kanye nempilo yakho yomzimba. Thola usizo uma uludinga.
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