Marfan syndrome chirwere chemajini chinokanganisa munhu mumwe chete muvashanu pasi rose. Iyo inokanganisa iyo inobatanidza tishu iyo inovimbisa kubatana kwechipenyu uye inopindira mukukura kwemuviri. Zvikamu zvakawanda zvemuviri zvinogona kukanganiswa: mwoyo, mapfupa, majoini, mapapu, tsinga uye maziso. Symptom management ikozvino inopa vanhu vane tarisiro yehupenyu hunenge hwakareba seiyo yevamwe vanhu.

Zviratidzo zveMarfan syndrome zvinosiyana zvakanyanya pamunhu nemunhu uye zvinogona kuonekwa chero pazera. Ivo vane mwoyo, musculoskeletal, ophthalmological uye pulmonary.

Kubatanidzwa kwemwoyo kunonyanya kuratidzwa nekuwedzera kuwedzera kweaorta, inoda kuvhiyiwa.

Iyo inonzi musculoskeletal damage inokanganisa mapfupa, tsandanyama nemarunda. Vanopa vanhu vane Marfan syndrome chimiro chechimiro: varefu uye vatete, vane chiso chakareba uye zvigunwe zvakareba, uye vane hurema hwemusana (scoliosis) uye chipfuva.

Kukuvadzwa kweziso senge lens ectopia kwakajairika uye matambudziko anogona kukonzera upofu.

Zvimwe zviratidzo zvinowanzoitika zvishoma: kuvhiringidzika uye kutambanudza mavara, pneumothorax, ectasia (kuwedzera kwechikamu chezasi chehamvuropu inodzivirira musana), nezvimwewo.

Zviratidzo izvi zvakafanana nezvimwe zvirwere zvinobatanidza, izvo zvinoita kuti Marfan syndrome iome dzimwe nguva kuongorora.

Marfan syndrome inokonzerwa nekuchinja kweiyo FBN1 gene iyo inodhinda kugadzirwa kweprotein fibrillin-1. Izvi zvinoita basa guru mukugadzirwa kwekubatanidza tishu mumuviri. Shanduko muFBN1 gene inogona kuderedza huwandu hwefibrillin-1 inoshanda inowanikwa kuumba fiber inopa simba uye kuchinjika kune inobatanidza tishu.

Mutation muFBN1 gene (15q21) inobatanidzwa muhuwandu hwezviitiko, asi mamwe maitiro eMarfan syndrome anokonzerwa nekuchinja kweTGFBR2 gene. (1)

Vanhu vane nhoroondo yemhuri ndivo vari panjodzi yeMarfan syndrome. Ichi chirwere chinotapukira kubva kuvabereki kuenda kuvana mu " autosomal dominant “. Zvinhu zviviri zvinotevera:

• Zvakakwana kuti mumwe wevabereki ndiye mutakuri wemwana wake kuti akwanise kuita chibvumirano;
• Munhu abatwa nechirwere ichi, murume kana mukadzi, ane mukana we50% wekutapurira shanduko yechirwere ichi kuvana vavo.

Genetic prenatal diagnosis inogoneka.

Nekudaro, hazvifanirwe kuregererwa kuti chirwere ichi dzimwe nguva chinobva pakuchinja kutsva kweiyo FBN1 gene: mu20% yezviitiko zvinoenderana neMarfan National Reference Center (2) uye mune ingangoita 1 mu4 zviitiko zvinoenderana nezvimwe zvinyorwa. Saka munhu abatwa nechirwere ichi haana nhoroondo yemhuri.

Kusvika iye zvino, hatizivi nzira yekurapa Marfan syndrome. Asi kufambira mberi kukuru kwakaitwa mukuongororwa kwayo uye kurapwa kwezviratidzo zvine chekuita nazvo. Zvekuti varwere vane tarisiro yehupenyu inenge yakaenzana neyehuwandu hwevanhu uye hupenyu hwakanaka hwehupenyu. (2)

Dilation of the aorta (kana aortic aneurysm) ndiro dambudziko remoyo rinonyanya kuitika uye rinoisa njodzi yakanyanya kumurwere. Zvinoda kutora beta-blocking zvinodhaka kugadzirisa kurova kwemwoyo uye kubvisa kumanikidzwa kwetsinga, pamwe nekutevera kwakasimba kwegore negore echocardiograms. Kuvhiyiwa kunogona kudiwa kugadzirisa kana kutsiva chikamu chetsinga chave chanyungudutswa chisati chabvaruka.

Kuvhiya kunogonawo kugadzirisa mamwe ziso uye skeletal kukura kusagadzikana, sekudzikamisa kwemusana mu scoliosis.