Malapa a Marfan ke lefu le sa tloaelehang la liphatsa tsa lefutso. Ho ea ka lipalo-palo, lefu lena le hlaha ho motho a le mong ho ba 5 000. Maemong a mangata, lefu lena ke lefa. Likarolong tse 75 lekholong, batsoali ba fetisetsa liphatsa tsa lefutso ho bana ba bona.
Lisosa tsa Marfan's syndrome ke tsa ho fetoha ha liphatsa tsa lefutso tse ikarabellang bakeng sa ho qaptjoa ha fibrilin. Ke ntho ena ke protheine ea bohlokoa ea 'mele, e ikarabellang bakeng sa tumellano le ho ruruha ha lihlahisoa tse sebetsang.
E tšoantšetsoang ke Marfan syndrome pathological changes in pelo, methapo ea methapo le mesifa ea mesifa. Bokooa bo ka sehloohong bo na le mathata a collagen 'me bo ama likhahla tse senyang tsa lisele tse sebetsang.
Matšoao a lefu lena
Marfan syndrome, tseo lipontšo tsa eona li hlahang ka litsela tsohle tse fapaneng, li tsoeloa haholo-holo ka botsofali le botsofali ba motho. Ha e le masapo a mokuli, e na le lintlha tse latelang:
- kholo e phahameng;
- skeleton e fokolang le e bonolo;
- Matso le Marfan's syndrome, joaloka maoto, a na le menoana e mengata e telele;
- sefahleho se moqotetsane;
- hangata meno a sa lekaneng;
- E kenyelletsoe kapa e fetisitsoe ka sternum;
- scoliosis;
- maoto a maoto .
Bakuli ba bangata ba tšoeroeng ke lefu lena ba tšoeroe ke myopia, cataract kapa glaucoma. Ka lebaka la bokooa linthong tse sebetsang, hangata batho ba tšoeroe ke maloetse a tebileng a pelo. Ka linako tse ling ho baka lefu la tšohanyetso. Ha lefu la Marfan le fumanoa, pelo ea mokuli e lerata. Ho na le li-palpitations le phefumoloho e khutšoanyane.
Batho ba nang le lefu la Marfan ba na le bofokoli kapa ba sithabela maotong. Ba atisa ho ba le hernia ea inguinal kapa ventral, mathata a itseng a phefumolohang torong. Kotsi ea kankere ea matšoafo e eketsa haholo.
Matšoao a Marfan, ao matšoao ao a nang le 'ona a fapaneng, a fokotsa nako ea bophelo ea mokuli ho fihlela ho lilemo tse 40-45.
Kemiso ea lefu lena
Nakong ea meriana, ho tloaelehile ho khetholla mefuta e mengata ea Marfan syndrome:
- e hlalositsoe;
- e senyehile.
Tekanyo ea matla e ka ba matla kapa e bonolo.
Mabapi le mofuta oa lefu lena, le ka tsitsa kapa la tsoela pele.
Mehato ea ho tseba
Qalong, ho fumanoa ha Marfan syndrome ho itšetlehile ka ho hlahloba li-pedigrees tsa mokuli. Boemo ba methapo ea pelo le ea nama ea motho bo boetse bo ithutoa. Ho lumellana le ho arohana ha likarolo tsa 'mele ho etsoa lipatlisiso.
E le molao, e le hore ho fumanoe hore o na le lefu lena ho hlokahala hore bonyane e be le matšoao a maholo a mabeli a lefu lena:
- arachnodactyly;
- ho senya lense ea leihlo;
- kyphoscoliosis;
- aortic aneurysm;
- ho fokola ha sternum.
Ho ntse ho le joalo ho na le bonyane matšoao a mang a mabeli:
- proral valve prolapse ;
- myopia;
- kholo e phahameng;
- pneumothorax;
- maoto a maoto;
- ho se tsitsane ha manonyeletso;
- stria.
Hangata, ho fumanoa ha lefu lena ha ho bake mathata. Leha ho le joalo, ka 10 lekholong ea linyeoe lisebelisoa tse ling tsa lipatlisiso tsa X-ray li laeloa. Marfan syndrome, e fumanoang e nepahetse, ka linako tse ling e ka ferekanngoa le lefu le tšoanang - lefu la Lois-Datz. Mekhoa ea phekolo ea mafu e fapane, kahoo ke habohlokoa haholo hore u se ke ua nka lefu le le leng ka morao.
Khetho ea Kalafo
Bakeng sa lefu lena le nepahetseng, mokuli o tla tlameha ho etela litsebi tse itseng:
- cardiologist;
- setsebi sa masapo;
- liphatsa tsa lefutso;
- ophthalmologist.
Marfan's syndrome ha e arabele phekolo efe kapa efe. Sena se bakoa ke taba ea hore bo-rasaense ha ba e-s'o ithute mokhoa oa ho fetola liphatsa tsa lefutso tsa mutated. Leha ho le joalo, ho na le mefuta e sa tšoaneng ea phekolo e ka reretsoeng ho ntlafatsa ts'ebetso le boemo ba mofuta o itseng le ho thibela mathata.
Ho bohlokoa ho khomarela lijo tse nepahetseng, ho noa livithamine le ho phela hantle. Marfan syndrome, eo phekolo ea eona e sa tloaelehang, e hloka mokuli hore a etse mokhoa o rarahaneng oa ho ikoetlisa. Leha ho le joalo, mojaro o lokela ho ba bonolo le o itekanetseng.