Chii chinonzi Marfan syndrome, zviratidzo uye kurapwa

Zvemukati

• Zviratidzo zvikuru
• Zvinokonzera Marfan syndrome
• Maitiro ekuongororwa kunoitwa
• Kurapa nzira

Marfan Syndrome chirwere chemageneti chinokanganisa nyama inobatanidza, inova inokoshesa rutsigiro nekusimba kwenhengo dzakasiyana mumuviri. Vanhu vane chirwere ichi vanowanzo kuve vakareba kwazvo, vakaonda uye vane zvigunwe zvakareba uye zvigunwe uye vanogona zvakare kuve neshanduko mumoyo yavo, maziso, mapfupa nemapapu.

Ichi chirwere chinoitika nekuda kwekuremara kwenhaka mu fibrillin-1 geni, inova chinhu chikuru chemarunda, arteri madziro nemajoini, zvichikonzera kuti zvimwe zvikamu nenhengo dzomuviri zvive zvisina kusimba. Kuongororwa kunoitwa nemurapi kana chiremba wevana kuburikidza nenhoroondo yehutano hwemunhu, kuongororwa kweropa uye kufungidzira uye kurapwa kunoenderana nekutsigira sequelae inokonzerwa nechirwere.

Zviratidzo zvikuru

Marfan syndrome chirwere chemagene chinokonzeresa shanduko muhurongwa hwakasiyana hwemuviri, zvichitungamira kuzviratidzo nezviratidzo zvinogona kuoneka pakuzvarwa kana kunyangwe muhupenyu hwese, kuomarara kwacho kunosiyana kubva kune mumwe munhu kuenda kune mumwe. Zviratidzo izvi zvinogona kuoneka munzvimbo dzinotevera:

• Mwoyo: mhedzisiro huru yeMarfan syndrome ndezvekuchinja kwemoyo, zvichikonzera kurasikirwa nerutsigiro mumadziro etsinga, izvo zvinogona kukonzera aortic aneurysm, ventricular dilation uye mitral vharuvhu kupera;
• Mapfupa: ichi chirwere chinokonzeresa kuti mapfupa akure zvakawandisa uye anogona kuonekwa kuburikidza nekuwedzeredzwa kuwedzerwa mukukwirira kwemunhu uye nemaoko, zvigunwe nezvigunwe zvakareba kwazvo. Chipfuva chakakomberedzwa, chinonziwopectus excavatum, ndipo apo kuora mwoyo kunoumbwa pakati pechipfuva;
• Maziso: zvakajairika kuti vanhu vane chirwere ichi vadzokere ku retina, glaucoma, cataract, myopia uye inogona kuve nechena kwazvo chikamu cheziso rakanyanya kublue;
• Musana: kuratidzwa kweiyi syndrome kunogona kuoneka mumatambudziko emuzongoza senge scoliosis, kunova iko kutsauka kwemuzongoza kurudyi kana kuruboshwe. Izvo zvakare zvinokwanisika kucherechedza kuwedzera kweiyo dural sac munzvimbo ye lumbar, inova iyo membrane iyo inovhara musana wedunhu.

Zvimwe zviratidzo zvinogona kumuka nekuda kweiyi syndrome kusununguka kwemarunda, kuora mumukanwa, kunozivikanwa sedenga remuromo, uye tsoka dzakatsetseka, dzinozivikanwa nemakumbo marefu, pasina kupindika kwega. Ona zvimwe chii chiri flatfoot uye marapirwo anoitwa.

Zvinokonzera Marfan syndrome

Marfan's syndrome inokonzereswa nehurema mune geni inonzi fibrillin-1 kana FBN1, iyo ine basa rekusimbisa rutsigiro uye kugadzira tambo dzakaomarara dzenhengo dzakasiyana mumuviri, senge mapfupa, moyo, maziso uye musana.

Muzviitiko zvakawanda, hurema uhwu inhaka, izvi zvinoreva kuti inopfuudzwa kubva kuna baba kana amai kuenda kumwana uye inogona kuitika kune vese vakadzi nevarume. Nekudaro, mune zvimwe zviitiko zvisingawanzoitika, hurema uhu mugene hunogona kuitika netsaona uye pasina chikonzero chinozivikanwa.

Maitiro ekuongororwa kunoitwa

Kuongororwa kweMarfan syndrome kunoitwa nemurapi kana chiremba wevana zvichienderana nenhoroondo yemhuri yemunhu uye shanduko yemuviri, uye bvunzo dzekufungidzira, senge echocardiography uye electrocardiogram, inogona kurairwa kuti ione matambudziko anogona kuitika mumoyo, senge aortic dissection. Dzidza zvakawanda nezve aortic dissection uye maitiro ekuzviziva.

X-rays, computed tomography kana magnetic resonance imaging inoratidzwawo kuti iongorore shanduko mune dzimwe nhengo uye kuongororwa kweropa, senge mageneti ekuongorora, ayo anokwanisa kuona shanduko mujeni rinokonzera kuoneka kwechirwere ichi. Mushure mekuburitswa kwemabvunzo, chiremba anozopa kurairwa kwemajini, umo marongero ezve genetics yemhuri achapihwa.

Kurapa nzira

Kurapa kweMarfan's syndrome hakuna kuitirwa kurapa chirwere ichi, asi kunobatsira kudzikisa zviratidzo kuitira kusimudzira hupenyu hwevanhu vane chirwere ichi uye chinangwa chekubatsira kudzikisira musana, kuvandudza mafambiro emajoini uye kuderedza mukana dislocations.

Naizvozvo, varwere vane Marfan syndrome vanofanirwa kugara vachiongororwa moyo nemidziyo yeropa, uye kutora mishonga yakadai se beta-blockers, kudzivirira kukuvara kune yemoyo system. Uye zvakare, kurapwa kwekuvhiya kunogona kudikanwa kugadzirisa maronda mune aortic arteri, semuenzaniso.