Yini i-Marfan syndrome, izimpawu nokwelashwa

-Delile

• Izimpawu eziyinhloko
• Izimbangela zeMarfan syndrome
• Ukuxilongwa kwenziwa kanjani
• Izinketho zokwelashwa

I-Marfan Syndrome yisifo sofuzo esithinta izicubu ezixhunyiwe, esibhekele ukwesekwa nokunwebeka kwezitho ezahlukahlukene emzimbeni. Abantu abanalesi sifo bavame ukuba bade kakhulu, babe mncane futhi babe neminwe nezinzwane ezinde ngokwedlulele futhi bangaba nezinguquko enhliziyweni, emehlweni, emathanjeni nasemaphashini.

Lesi sifo sivela ngenxa yesici esivela ku-fibrillin-1 gene, okuyisakhi esiyinhloko semisipha, izindonga zomthambo namalunga, okwenza izingxenye ezithile nezitho zomzimba zibe ntekenteke. Ukuxilongwa kwenziwa ngudokotela ojwayelekile noma udokotela wezingane ngomlando wezempilo womuntu, ukuhlolwa kwegazi nokucabanga kanti ukwelashwa kuqukethe ukusekela i-sequelae ebangelwa yi-syndrome.

Izimpawu eziyinhloko

IMarfan syndrome yisifo sofuzo esidala ushintsho ezinhlelweni ezahlukahlukene zomzimba, okuholela kwizimpawu nezimpawu ezingabonakala lapho kuzalwa noma kuyo yonke impilo, ubunzima bazo obuhlukahluka kuye ngomuntu. Lezi zimpawu zingavela ezindaweni ezilandelayo:

• Inhliziyo: imiphumela eyinhloko ye-Marfan syndrome yizinguquko zenhliziyo, okuholela ekulahlekelweni kokwesekwa odongeni lwe-artery, olungadala i-aortic aneurysm, i-ventricular dilation ne-mitral valve prolapse;
• Amathambo: lesi sifo senza ukuthi amathambo akhule ngokweqile futhi kungabonakala ngokwanda okunehaba ekuphakameni komuntu nangengalo, iminwe nezinzwane isikhathi eside kakhulu. Isifuba esikhishwe, esibizwa nangokuthii-pectus excavatum, kungaleso sikhathi lapho ukucindezeleka kwakheka khona maphakathi nesifuba;
• Amehlo: kujwayelekile ukuthi abantu abanalesi sifo babe nokususwa kwe-retina, i-glaucoma, i-cataract, i-myopia futhi bangaba nengxenye emhlophe yeso ibe luhlaza ngokwengeziwe;
• Umgogodla: ukubonakaliswa kwalesi sifo kungabonakala ezinkingeni zomgogodla ezifana ne-scoliosis, okungukuphambuka komgogodla ngakwesokunene noma ngakwesokunxele. Kungenzeka futhi ukuthi ubone ukwanda kwesikhwama sendawo esisesifundeni se-lumbar, okuyilwelwesi oluhlanganisa indawo yomgogodla.

Ezinye izimpawu ezingavela ngenxa yalesi sifo wukukhululeka kwemisipha, ukukhubazeka kolwanga, okwaziwa ngokuthi uphahla lomlomo, nezinyawo eziyizicaba, ezibonakala ngezinyawo ezinde, ngaphandle kokugobeka kwedwa. Bona kabanzi ukuthi yini i-flatfoot nokuthi ukwelashwa kwenziwa kanjani.

Izimbangela zeMarfan syndrome

I-Marfan's syndrome ibangelwa ukukhubazeka kofuzo olubizwa nge-fibrillin-1 noma i-FBN1, enomsebenzi wokuqinisekisa ukwesekwa nokwakhiwa kwezintambo ezinwebeka zezitho ezahlukahlukene emzimbeni, njengamathambo, inhliziyo, amehlo nomgogodla.

Ezimweni eziningi, lokhu kukhubazeka kungokofuzo, lokhu kusho ukuthi kudluliswa kusuka kubaba noma kumama kuya enganeni futhi kungenzeka kwabesifazane nakwabesilisa. Kodwa-ke, kwezinye izimo ezingavamile, lokhu kukhubazeka kuhlobo kungenziwa ngengozi futhi ngaphandle kwesizathu esaziwayo.

Ukuxilongwa kwenziwa kanjani

Ukuxilongwa kwe-Marfan syndrome kwenziwa ngudokotela ojwayelekile noma udokotela wezingane ngokususelwa emlandweni womndeni womuntu nasekushintsheni komzimba, futhi ukuhlolwa kwe-imaging, okufana ne-echocardiography kanye ne-electrocardiogram, kungalawulwa ukuthola izinkinga ezinokwenzeka enhliziyweni, njenge-aortic dissection. Funda kabanzi mayelana nokuhlukaniswa kwe-aorta nokuthi ungakukhomba kanjani.

I-X-ray, i-computed tomography noma i-magnetic resonance imaging nayo ikhonjisiwe ukuhlola ushintsho kwezinye izitho nokuhlolwa kwegazi, njengokuhlolwa kofuzo, okwazi ukubona ukuguquka kwezakhi zofuzo ezibhekele ukuvela kwalesi sifo. Ngemuva kokuphuma kwemiphumela yokuhlolwa, udokotela uzohlinzeka ngokweluleka ngezakhi zofuzo, lapho kuzonikezwa izincomo zofuzo lomndeni.

Izinketho zokwelashwa

Ukwelashwa kwe-Marfan's syndrome akuhloselwe ukwelapha lesi sifo, kepha kuyasiza ukunciphisa izimpawu ukuze kuthuthukiswe izinga lempilo yabantu abanalesi sifo futhi kuhlose ukusiza ukunciphisa ukukhubazeka komgogodla, ukuthuthukisa ukunyakaza kwamalunga nokunciphisa amathuba okuthi ukuhlukaniswa.

Ngakho-ke, iziguli ezine-Marfan syndrome kufanele zihlolwe njalo zenhliziyo nemithambo yegazi, futhi zithathe imishanguzo efana ne-beta-blockers, ukuvimbela ukulimala kohlelo lwezinhliziyo. Ngaphezu kwalokho, ukwelashwa okuhlinzekwayo kungadingeka ukulungisa izilonda emthanjeni we-aortic, isibonelo.