I-Marfan syndrome yisifo esingaqhelekanga sesifo sofuzo. Ngokwezibalo, esi sifo senzeke kumntu ongu-1 kuma-5 000. Kwiimeko ezininzi, lesi sifo sifa. Kwi-75% yamatyala, abazali bathumela i-gene ye-gene eguquguqukileyo kubantwana babo.
Izimbangela ze-Marfan's syndrome zikho ekuguqulweni komthwalo ojongene nokuhlanganiswa kwe-fibrilin. Le nto yiprothini ebalulekileyo yomzimba, inoxanduva lokuthengisa kunye nokunyaniseka kwezicubu ezinxibelelwano.
Efanelwe yi-Marfan syndrome utshintsho lweengxaki kwi-cardiovascular, inkqubo ye-nervous and musculoskeletal system. Isiphene esona sikhulu sisifo se-collagen kwaye sichaphazela iifom e-elastic of tiscu.
Iimpawu neempawu zesifo
I-Marfan syndrome, iimpawu zazo ezibonakaliswa kuzo zonke iindlela ezahlukeneyo, ziqhubela phambili ngokuguga nokuguga komntu. Ngokubhekiselele kumasipha omgulane, unezinto ezilandelayo:
- ukukhula okuphezulu;
- amathambo afanelekileyo kwaye anqabileyo;
- Izandla kunye ne-Marfan's syndrome, njengemilenze, ineeminwe emininzi engaqhelekanga;
- ubuso obuncinane;
- amazinyo amaninzi angafani;
- I-sternum efakwe okanye i-convex;
- i-scoliosis;
- ezinyaweni .
Izigulane ezininzi ezinezifo zijongene ne-myopia, i-cataracts okanye i-glaucoma. Ngenxa yesiphene kwiisisombululo ezixhamlayo, abantu bahlala behlushwa zizifo ezinzulu zesifo senhliziyo. Ngamanye amaxesha kubangela ukufa ngokukhawuleza. Xa i-Marfan syndrome ifunyaniswa, intliziyo yesigulane isandi. Kukho iintambo kunye nokuphefumula okufutshane.
Abantu abaneMarfan syndrome banobuthakathaka okanye banzima kwimilenze. Zivame ukuba ne-inguin or ventral hernia, iingxaki ezithile ngokuphefumla ephupheni. Umngcipheko womhlaza wamaphaphu ukwandisa kakhulu.
ISimpawu iMarfan, iimpawu zazo ezihlukeneyo, zibeka umlinganiselo wokuphila kwesigulane kwiminyaka engama-40-45.
Ukuhlulwa kwesifo
Kwizonyango, kuyisiko ukuhlukanisa iindlela ezininzi ze-Marfan syndrome:
- zichazwe;
- zicinywa.
Iqondo lexinzelelo linokuba nzima okanye lincinci.
Ngokuphathelele uhlobo lwesifundo sesi sifo, sinokuzinza okanye siqhubeke.
Amanyathelo okuchonga
Ekuqaleni, ukuxilongwa kweMarfan syndrome kusekelwe ekuhlalutyweni kweigulane zamagulane. Isifundo somntu osisigxina kunye nesimo somntu siyafundwa. Ukuvisisana nokulingana kwamalungu ngamnye omzimba uphando.
Njengomthetho, ukufunyaniswa kwezifo kuyimfuneko ukuba ubuncinane enye yezona zimbonakaliso ezinhlanu zesifo:
- arachnodactyly;
- ukuchithwa kwe-lens kweso;
- kyphoscoliosis;
- aneorysm;
- ukukhubazeka kwe-sternum.
Kukho kufuneka ukuba ubuncinane ubuncinane ezimbini iimpawu:
- i-mitral valve ;
- myopia;
- ukukhula okuphezulu;
- pneumothorax;
- ezinyaweni;
- ukungahambi kakuhle kwamalungu;
- stria.
Uninzi lwamaxesha amaninzi, ukuxilongwa kwesi sifo akubanga iimeko ezinzima. Nangona kunjalo, kwi-10% yeziganeko ezongezelelweyo iinkqubo zokuphanda ezisebenza nge-X-ray zichazwe. I-Marfan syndrome, ukuxilongwa kwezinto ezichanileyo, ngamanye amaxesha kudibaniswa nesifo esifanayo-i-Lois-Datz syndrome. Izindlela zokonyango kwezifo ziyahluke, ngoko kubaluleke kakhulu ukuba ungathathi esinye isifo emva kwesinye.
Izinyango Zonyango
Ukuxilongwa ngokuchanekileyo, isigulane kufuneka sihambele iingcali ezithile:
- i-cardiologist;
- mazinyo;
- imfuza;
- ophthalmologist.
I-Marfan's syndrome ayiphenduli naluphina unyango oluthile. Oku kungenxa yokuba inzululwazi ayengafundile indlela yokutshintsha iigeni eziguquguqukayo. Nangona kunjalo, kukho inamba yeendlela ezahlukeneyo zonyango ezinokujoliswa ekuphuculeni ukusebenza kunye nemeko yecandelo elithile kunye nokukhusela iingxaki.
Kubalulekile ukunamathela kwisondlo esifanelekileyo, ukuthatha amavithamini kwaye ngokuqhelekileyo uphile ngendlela ephilileyo yokuphila. I-Marfan syndrome, enyango lonyango, ludinga isigulane ukuba senze iimeko ezinzima zokuzivocavoca umzimba. Nangona kunjalo, umthwalo kufuneka ube mnene kwaye ulinganise.