Kunzwisisa Kufuridzira Thoracic Dystrophy
Jeune syndrome, iyo inozivikanwawo seyephyxiating thoracic dystrophy, iyo inowanikwa nhaka yehupenzi inobereka zvidimbu zviduku, chifukidzo chiduku, nezvinetso zvepvo. Mukuratidza kwayo kukuru, zvisinei, kuora mwoyo kunokonzerwa nehombodo duku. Inofungidzirwa kuti inowanikwa kune 1 kubva ku100 000 kusvika ku30 000 kuberekwa kurarama uye inokanganisa vanhu vemarudzi ose.
Zviratidzo
Vanhu vane Jeune syndrome vane zvimwe zvinhu zvakafanana:
- Bhokisi refu, rakamanikana, uye risingashamisi uye rakapera simba remapapu
- Maoko mashoma nemakumbo zvichienzaniswa nechiganda uye chimiro chediki chiduku (chidimbu chine maziso mashoma )
- Zvinosangirwa nephiyo izvo zvinogona kutungamirira kushaya mafungiro
Zvimwe zviratidzo izvo vanhu vane Jeune syndrome vangave:
- Intestinal malabsorption
- Retinal degeneration
- Zvinetso zvechiropa
- Mwoyo uye zvinetso zvemhepo
Kakawanda, kurwadziwa kukuru kwekupemha kunowanikwa kubva paucheche. Mune dzimwe nguva, kufema zvinetso zvisinganyanyi kuoma, uye kusagadzikana kweeitsvo kana maitiro emimba kunogona kuwanda.
Kuziva
Jeune syndrome inowanzoongororwa panguva yekuberekwa inobva pachifuva chekuora uye chidiki chemazuva mashoma. Kunyanya kunetseka vacheche vachabva vaine kupera kwekutambudzika. Mhosva dzisingaiti dzinogona kuonekwa nebhokisi x-ray.
Kurapa
Nyaya inonyanya kukosha yekurapa kune mumwe munhu ane Jeune syndrome iri kudzivirira nekurapa zvirwere zvekuporesa.
Zvinosuruvarisa, vana vakawanda nevana vane chirwere vanofa nekushaya kuputika kunounzwa nebhokisi duku uye vanodzokorora kuporesa zvirwere.
Mune zvimwe zviitiko, kuwedzera chibhakitiriro chembambo nemapfupa ekugadzirisazve maitiro zvakabudirira mukudzivirira kuporesa kunetseka. Iyi kuvhiyiwa kwakaoma uye inokuvadza uye yakachengeterwa vana vane zvinetso zvakafema zvakanyanya.
Vanhu vane Jeune syndrome vanogonawo kuva nehuwandu hwehutano hwepfungwa kubva muzvirwere zvepfungwa. Hutsvo dzavo dzinogona kuguma dzisakundikana, izvo zvinotapurirwa ne dialysis kana kupora kwepimpso .
Vanhu vakawanda vane Jeune syndrome vanopona paucheche vanotanga kuve nekugadzirwa kwechifuva.
Genetic Counseling
Jeune syndrome inotora nhaka yakawanda inokonzera kuporesa . Izvi zvinoreva kuti vabereki vose vanofanira kunge vari kutakura nhengo dzisina kukwana kuitira kuti mwana atore nhaka yehutano. Nokudaro, kana vabereki vakabereka mwana akabatwa, izvi zvinoreva kuti vose vari vatakuri, uye kuti mwana mumwe nomumwe anotevera ivo vane vane mukana we25% wekuwana chirwere.
Sources
Chen, H. (2004). Kufuridzira thoracic dystrophy (Jeune syndrome). eMedicine.
Sarimurat N, Elçioğlu N, Tekant GT, et al. June's asphyxiating thoracic dystrophy yemwana achangoberekwa. Eur J Pediatr Surg 1998; 8: 100.
Yakarongedzwa naRichard N. Fogoros, MD