I-Marfan syndrome yisifo esingavamile kakhulu sezakhi zofuzo. Ngokwezibalo, lesi sifo senziwa kumuntu ongu-1 kwabangu-5 000. Ezimweni eziningi, lesi sifo sinesifazana. Ezingamaphesenti angama-75%, abazali bathumela izakhi zofuzo ezinganeni zabo.
Izimbangela zeMarfan's syndrome zikhona ekuguqulweni kwegesi ezibhekene nokuhlanganiswa kwe-fibrilin. Yilokhu okuyisiprotheni esibalulekile somzimba, obhekene nokuvumelanisa nokuqina kwezicubu ezixhunyiwe.
Efaniswa nezinguquko ze-Marfan syndrome ezinsifo senhliziyo, isimiso sezinzwa nesistimu ye-musculoskeletal. Ukukhubazeka okuyinhloko ku-collagen ukuphazamiseka futhi kuthinta izintambo ezinwetshiwe zezicubu ezixhunyiwe.
Izibonakaliso zesifo
I-Marfan syndrome, izimpawu zazo ezibonakaliswa ngazo zonke izindlela ezahlukene, iqhubeka ikakhulukazi ngokuguga nokuguga komuntu. Ngokuqondene namasipha omuthi, unezici ezilandelayo:
- ukukhula okuphezulu;
- skeleton nezimo ezincane;
- Amandla ane-Marfan's syndrome, njengemilenze, aneminwe ende ende;
- ubuso obuncane obude;
- amazinyo amaningi angenalutho;
- I-sternum efakiwe noma i-convex;
- i-scoliosis;
- izinyawo ezinyaweni .
Iziguli eziningi ezinezifo zihlushwa yi-myopia, i-cataracts noma i-glaucoma. Ngenxa yesici esithombeni esixhumene nabo, abantu bavame ukubhekana nezifo ezinzima zenhliziyo. Ngezinye izikhathi kubangela ukufa okuzumayo. Uma i-Marfan syndrome itholakala, inhliziyo yesiguli iyamangala. Kukhona ukuphazamiseka nokuphefumula.
Abantu abane-Marfan syndrome banobuthakathaka noma banzima emilenzeni. Bavame ukuba ne-inguinal or ventral hernia, izinkinga ezithile zokuphefumula ephusheni. Ingozi yomdlavuza wamaphaphu yanda ngokuphawulekayo.
Isibonakaliso iMarfan, izimpawu zazo ezihlukene kakhulu, zinciphisa isikhathi sokuphila kwesiguli eminyakeni engama-40-45.
Ukuhlukaniswa kwesifo
Ezokwelapha, kuwumkhuba ukuhlukanisa izinhlobo eziningana ze-Marfan syndrome:
- evezwe;
- isuliwe.
Ubukhulu bokuqina bungaba nzima noma bukhulu.
Ngokuqondene nesimo senkinga yesifo, singasimama noma siqhubeke.
Izinyathelo zokuhlola
Ekuqaleni, ukuxilongwa kwe-Marfan syndrome kusekelwe ekuhlaziyweni kwezigulane zeziguli. Isimo sengqondo somuntu onokwemvelo nesimo somzimba sifundwe futhi. Ukuvumelana nokulinganisa izingxenye zomzimba ngamunye kuyaphenywa.
Njengomthetho, ukuthi ukuxilongwa kuyadingeka ukuba okungenani kube neyodwa yalezi zimpawu ezinhlanu eziyinhloko zesifo:
- i-arachnodactyly;
- ukuhlukaniswa kwe-lens iso;
- i-kyphoscoliosis;
- aneorysm aortic;
- ukubola kwe-sternum.
Noma kunjalo kumele kube khona okungenani izimpawu ezimbili ezengeziwe:
- i-mitral valve iyabulala ;
- i-myopia;
- ukukhula okuphezulu;
- i-pneumothorax;
- izinyawo eziphansi;
- ukungaqondakali kwamalunga;
- stria.
Ngokuvamile, ukuxilongwa kwalesi sifo akubanga imbangela. Kodwa-ke, kumacala angu-10% amacala okusebenza okuphenya nge-X-ray anqunyelwe. I-Marfan syndrome, ukuxilongwa okuyiyona enembile, ngezinye izikhathi kungase kudideke nesifo esifanayo - i-Lois-Datz syndrome. Izindlela zokwelashwa kwezifo zihlukile, ngakho kubaluleke kakhulu ukungathathi isifo esisodwa emva kwesinye.
Izinketho zokwelapha
Ukuze uthole ukuxilongwa okufanele, isiguli kuyodingeka sivakashele ochwepheshe abathile:
- i-cardiologist;
- i-orthopedist;
- izakhi zofuzo;
- i-ophthalmologist.
I-Marfan's syndrome ayiphenduli kunoma imuphi ukwelashwa okuthile. Lokhu kungenxa yokuthi ososayensi abangafundile ukuthi bangashintsha kanjani izakhi zofuzo eziguquguqukayo. Kodwa-ke, kunezinhlobo eziningi zokwelapha ezingahle zihloswe ekuthuthukiseni ukusebenza kanye nesimo segciwane elithile nokuvimbela izinkinga.
Kubalulekile ukunamathela kokudla okunempilo okulinganiselayo, ukuthatha amavithamini futhi ngokuvamile uhola indlela yokuphila enempilo. I-Marfan syndrome, okwelashwa kwayo kuyingqayizivele, idinga isiguli ukuba senze izinto eziyinkimbinkimbi zokuzivocavoca umzimba. Noma kunjalo, umthwalo kufanele ube mnene futhi ulinganise.