IMarfan syndrome yi Ukuphazamiseka kwemfuza, okubangelwa yimfuza engaqhelekanga, i-FBN1, Ichaphazela izicwili ezinxibelelanayo zomzimba. Izicubu ezinxibelelanayo zezona zibambe iiseli zomzimba, izitho kunye nezinye izicwili kunye. Kwakhona kubalulekile ekukhuleni nasekukhuleni komntu.
Njengakwezinye izifo zemfuza, lilifa, kumatyala amathathu kwaba-3 afunyanwa kumzali ochaphazelekayo. IMarfan syndrome ichaphazela amakhwenkwe namantombazana ngokulinganayo, kwaye akukho luhlanga lubalulekileyo okanye ubuhlanga.
Oonobangela kunye neempawu zesifo sikaMarfan
IGen I-FBN1 yile nto inceda iprotheni ukuba ibe sisicubu esidibeneyo, esibizwa ngokuba yi-fibrillin. Xa le geni ingaqhelekanga, uphawu lweMarfan lwenzeka, olunokuvela kwilifa (omnye wabazali sele enayo le syndrome) okanye kutshintsho olutsha. Abaphandi bakholelwa ukuba eli tyala lokugqibela livela rhoqo xa utata engaphezulu kweminyaka engama-45.
Abantwana abaneMarfan syndrome banokuba baninzi iimpawu ezahlukileyo, kuba isifo sinokuchaphazela intliziyo kunye nemithambo yegazi, amathambo kunye namalungu, namehlo. Ezinye zeempawu eziqhelekileyo zezi:
- Iingxaki zamehlo I-lens subluxation ihlala iyimbonakalo yokuqala ye-ocular efunyanwa ngoogqirha babantwana. Ezinye zii-myopia, i-glaucoma, okanye i-cataract ngaphambi kwexesha
- Ukungahambelani ngokudibeneyo: ukuguquguquka okukhulu kumalungu.
- Ukuxinana kwamazinyo
- Isifuba esimile ngokungaqhelekanga
- I-pneumothorax ezenzekelayo okanye umphunga owileyo
- Mde, umzimba omncinci. Kude, iingalo ezinemilo yesigcawu, imilenze kunye neminwe.
- I-Scoliosis okanye i-kyphoscoliosis eguqulweyo kugoso lomqolo.
- Flatfoot
- Ukuphilisa amanxeba okanye amanxeba eluswini
Inyani yokuba ezi mpawu zijongeka kakhulu njengezinye iingxaki zempilo yenza yakho ukuxilongwa kulibazisekile. Okwangoku kuqikelelwa ukuba umntwana omnye kwabayi-1 5000 unesifo, esenza ukuba sibe sesinye sezifo ezinqabileyo eziqhelekileyo.
Yintoni unyango kwesi sifo
Unyango luya kuza emva koviwo olunzulu, kwaye Kuya kuxhomekeka kubukhali, iimpawu, ubudala bomntwana, kunye nempilo ngokubanzi. Okwangoku alukho unyango, kodwa unyango luboniswa ngokwamalungu alo oluchaphazelekayo. Ngenxa yoku, ukuphononongwa rhoqo kunye namaxesha kubalulekile. Kuyacetyiswa, njengakweminye imicimbi yezempilo, ukunqanda iimeko zoxinzelelo lomzimba okanye lweemvakalelo kunye nokuzilolonga okukhulu okanye ukunxibelelana kwezemidlalo akukhuthazwa.
Kwiimeko ezininzi iingxaki zentliziyo abantwana abaneMarfan syndrome baphathwa ngamayeza, okanye ngotyando. Xa ixesha lifika, ukufakelwa kungafuneka. Iingxaki zamathambo kunye nokudibanisa ziyanyangwa ngokunyanga ngokwasemzimbeni, izihlangu ezomeleleyo, unyango okanye uqhaqho. Iingxaki zamehlo ziphathwa ngengcali yamehlo.
Ngeli xesha imibutho eyahlukeneyo kunye izazinzulu zisebenzela ukuxilongwa kwangethuba, ukwenzela ukuba xa ifunyenwe kwangoko, unyango lunokuqala ngokukhawuleza, ngaloo ndlela kufikelelwe kwisibikezelo esingcono. Ixesha lokuphila lezigulana ezine-Marfan syndrome lenyuke ngokubonakalayo, ukusuka kwiminyaka engama-45 ukuya kwengama-72.
Ukuxhasa iintsapho ezineMarfan syndrome
ESpeyin Umbutho weSIMA ubonelela ngolwazi kunye neengcebiso kubantu nakwintsapho ezichaphazelekayo sisifo seMarfan. Enkosi kulo Mbutho, abantu abachaphazeleke sesi sifo banokufunyanwa kwaye baziwe kulo lonke ilizwe laseSpain. Okwangoku kukho iiYunithi zoNyango zoNyango eBarcelona, eMadrid naseMalaga.
Banazo iwebhusayithi yethu, kunye nejelo le-YouTube Ngokwenza uthotho lweengcebiso, bakhuthaza iintlanganiso kunye neminye imisebenzi. Ukongeza kumaxwebhu abanzi kunye nokunxibelelana ngqo kwabo bafuna ukwazi ngakumbi ngesi sifo.
Inyani yile yokuba namhlanje abalinganiswa abohlukeneyo bafumanise ukuba banesi sifo, enceda ukunika ukubonakala. Abanye baba balinganiswa ngumdlali webhola yomnyazi u-Isaya Austin, umdlali weqonga waseSpain uJavier Botet, imvumi yaseArgentina uCarca okanye imvumi ekhokelayo kunye negitala yeqela iDeerhunter, uBradford Cox.