Yintoni iMarfan syndrome, iimpawu kunye nonyango

Umxholo

• Iimpawu eziphambili
• Oonobangela beMarfan syndrome
• Uxilongo lwenziwa njani
• Izinketho zonyango

IMarfan Syndrome sisifo semfuza esichaphazela izihlunu ezinxibelelanayo, ezijongene nokuxhaswa kunye nokuqina kwamalungu ohlukeneyo emzimbeni. Abantu abanesi sifo bathambekele ekubeni bade kakhulu, babhityile kwaye baneminwe neenzwane ezinde kakhulu kwaye banokuba notshintsho entliziyweni yabo, emehlweni, emathanjeni nasemiphungeni.

Esi sifo senzeka ngenxa yesiphene esivela kwilifa kwi-fibrillin-1 gene, elilelona candelo liphambili lemithambo, iindonga zomthambo kunye namalungu, ebangela ukuba amanye amalungu omzimba abe buthathaka. Ukuxilongwa kwenziwa ngugqirha oqhelekileyo okanye ugqirha wabantwana kwimbali yezempilo yomntu, kuvavanyo lwegazi kunye nokucinga kwaye unyango lubandakanya ukuxhasa ukulandelelana okubangelwa sisifo.

Iimpawu eziphambili

I-Marfan syndrome sisifo semfuza esidala utshintsho kwiinkqubo ezahlukeneyo zomzimba, esikhokelela kwiimpawu kunye neempawu ezinokubonakala xa kuzalwa okanye nakubo bonke ubomi, ubungqongqo bazo buyahluka komnye umntu buye komnye. Ezi mpawu zinokuvela kwezi ndawo zilandelayo:

• Intliziyo: Iziphumo eziphambili zeMarfan syndrome lutshintsho lwentliziyo, olukhokelela ekuphulukaneni nenkxaso kudonga lweartery, olunokubangela i-aortic aneurysm, i-ventricular dilation kunye ne-mitral valve prolapse;
• Amathambo: le syndrome ibangela ukuba amathambo akhule ngokugqithileyo kwaye anokubonwa ngokunyuka okubaxiweyo kubude bomntu nangeengalo, iminwe neenzwane ezinde kakhulu. Isifuba esikhutshiweyo, sikwabizwa ngokubapectus excavatum, kuxa uxinzelelo lwenzeka kumbindi wesifuba;
• Amehlo: kuqhelekile kubantu abanesi sifo ukuba bafuduke kwi-retina, i-glaucoma, i-cataract, i-myopia kwaye banokuba nelona lungu limhlophe liliso eliluhlaza;
• Umqolo: Ukubonakaliswa kwesi sifo kungabonakala kwiingxaki zomgudu ezifana ne-scoliosis, oku kukuphambuka komqolo kwicala lasekunene okanye lasekhohlo. Kuyenzeka ukuba uqaphele ukonyuka kwesingxobo sangaphakathi kwindawo ye-lumbar, eyimbumba egubungela ummandla womqolo.

Eminye imiqondiso enokuvela ngenxa yesi sifo kukukhululeka kwemithambo, ukukhubazeka okwenkalakahla, okwaziwa ngokuba luphahla lomlomo, kunye neenyawo ezisicaba, ezibonakaliswa ziinyawo ezinde, ngaphandle kokugoso kwedwa. Bona ngakumbi ukuba yintoni i-flatfoot kunye nokuba lwenziwa njani unyango.

Oonobangela beMarfan syndrome

Isifo sikaMarfan sibangelwa sisiphene kwimfuza ebizwa ngokuba yi-fibrillin-1 okanye i-FBN1, enomsebenzi wokuqinisekisa inkxaso kunye nokwenza imicu yelastiki yamalungu ahlukeneyo emzimbeni, anjengamathambo, intliziyo, amehlo kunye nomqolo.

Kwiimeko ezininzi, esi siphene sifunyanwa njengelifa, oku kuthetha ukuba sigqithiselwa kutata okanye kumama sisiya emntwaneni kwaye sinokwenzeka kwabasetyhini nakumadoda. Nangona kunjalo, kwezinye iimeko ezinqabileyo, esi siphene kuhlobo lunokwenzeka ngamabona-ndenzile kwaye ngaphandle kwesizathu esaziwayo.

Uxilongo lwenziwa njani

Ukuchongwa kwesifo seMarfan kwenziwa ngugqirha oqhelekileyo okanye ugqirha wabantwana ngokusekwe kwimbali yosapho lomntu kunye notshintsho olwenzeka emzimbeni, kwaye iimvavanyo zokucinga, ezinje nge-echocardiography kunye ne-electrocardiogram, zinokuyalelwa ukuba zibone iingxaki ezinokubakho entliziyweni, njenge-aortic dissection. Funda ngakumbi malunga ne-aortic dissection kunye nendlela yokuchonga.

I-X-ray, ikhompyuter ye-tomography okanye i-imagination magontic resonance ikwaboniswa ukujonga utshintsho kwamanye amalungu kunye novavanyo lwegazi, olufana novavanyo lofuzo, olukwaziyo ukubona ukutshintsha kwemfuza enoxanduva lokuvela kwesi sifo. Emva kokuba iziphumo zovavanyo ziphumile, ugqirha uya kunika ingcebiso ngemfuzo, apho izindululo malunga nemfuzo yosapho ziya kunikwa.

Izinketho zonyango

Unyango lwe-Marfan's syndrome alujoliswanga ekunyangeni esi sifo, kodwa luyanceda ukunciphisa iimpawu ukuze kuphuculwe umgangatho wobomi babantu abanale syndrome kwaye lujolise ekuncedeni ukunciphisa ukukhubazeka komqolo, ukuphucula iintshukumo zamalungu kunye nokunciphisa ukubakho Ukwahlula.

Ke ngoko, abaguli abane-Marfan syndrome kufuneka babe novavanyo rhoqo lwentliziyo kunye nemithambo yegazi, kwaye bathathe amayeza afana ne-beta-blockers, ukuthintela ukonakala kwenkqubo yeentliziyo. Ukongeza, unyango lotyando lunokuba yimfuneko ukulungisa izilonda kwi-aortic artery, umzekelo.