Nei Ichi Chirwere Chikaparadzana Muchidimbu Chechipiri Chisiri
Mumakore apfuura, chirwere chaLaurence-Moon-Bardet-Biedl (LMBBS) chaive chirevo chekushandiswa kurondedzera chizvarwa chakazvarwa nhaka chakakonzera anenge 1 muvana 100 000 vakaberekerwa. Yakatumidzwa zita rechiremba vana avo vakatanga vatsanangura zviratidzo zvechirwere.
Kubva panguva iyo, LMBBS yave ichionekwa seisina kururama. Pane kudaro, yakawanikwa kuti LMBBS yakange iine zvirwere zviviri zvakasiyana: Biedl-Bardet syndrome (BBS) uye Laurence-Moon syndrome (LMS).
Kusiyana Pakati peBeedl-Bardet Syndrome uye Laurence-Moon Syndrome
BHS ndiyo inowanzosangana nehutachiona hwema genetic inokonzera kuora kwekuonekwa, zvigunwe zviduku kana zvigunwe, kuora mukati mudumbu uye mudumbu, zvinetso zvepfungwa , uye kudzidza zvinetso. Zviratidzo zvinoitika nokukurumidza zvinowedzera; vanhu vazhinji vachave mapofu zvakakwana. Matambudziko kubva kune zvimwe zviratidzo, zvakadai sezvinetso zvepfungwa, zvinogona kutyisidzira upenyu.
Kufanana neBSS, LMS inorwara yakazvarwa nhaka. Inobatanidzwa nekudzidza zvinetso, kuderedza mahomoni ezvepabonde, uye kuoma kwemitsipa nemajoini. BBS neLMS zvakafanana chaizvo asi zvinoonekwa sezvisiyana nokuti varwere veLMS havaratidzi zviratidzo zvekuwedzera mairi kana kuora muviri mumimba.
Zvinokonzera BBS neLMS
Zviitiko zvizhinji zveBHS zvakatora nhaka. Mukubatanidza varume nevakadzi vose zvakaenzana asi hazviwanzoitiki. BBS inosanganisa 1 mu100 000 muNorth America neEurope. Icho chinowanzowanzoonekwa kune dzimwe nyika dze Kuwaiti neNewfoundland, asi masayendisiti haazive kuti sei.
LMS ihwowo chirwere chakagara nhaka. LMS inongodzokorora, zvichireva kuti inongowanikwa chete kana vabereki vose vakatakura geni reLMS. Kazhinji, vabereki ivo pachavo havana LMS asi vanotakura gene kubva kune mumwe wavo vabereki.
Maitiro Avo Anozivikanwa
BBS inowanzoongororwa muhuduku. Kuongororwa kwekuona uye kuchipatara kuongororwa kuchaona kusakosha kwakasiyana uye kunonoka.
Mune zvimwe zviitiko, kuongorora mazita ekuberekwa kunogona kuona kuvepo kwechirwere chisati chaitika zviratidzo zvichiitika.
LMS inowanzoongororwa kana ichiongororwa nekukurumidza kunonoka, zvakadai sekuongororwa kwekutaura kusadzivirira, kuremara kwekudzidzira, uye matambudziko ekuongorora .
Zvirwere zveMamiriro maviri
Kurapa kweBSS kunotarisa mukurapa zviratidzo zvechirwere, zvakadai sekururamisa maonero kana kuchinja mafungiro. Kupindira kwekutanga kunogona kubvumira vana kuti vararame hupenyu huri nani huripo nekugadzirisa zviratidzo, asi hapana mushonga wechirwere panguva ino.
Kune LMS, hapana maitiro azvino anogamuchirwa kutarisa chirwere. Kufanana neBHS, kurapwa kunonyanya kurongedza zviratidzo. Sangano reOphthalmic, rakadai semagalazi kana zvimwe zvingabatsira, rinogona kubatsira kuwedzera kuonekwa. Kuti ubatsire kubata nguva shoma uye kukura kunonoka, hormone therapy inogona kukurudzirwa. Kutaura uye kurapwa kwebasa kunogona kuvandudza kusagadzikana uye unyanzvi hupenyu hwezuva nezuva. Rheal therapy uye zvinotsigirwa neutsvo zvinogona kudiwa.
Zvinyorwa zveByedl-Bartet Syndrome kana Laurence-Moon Syndrome
Kune avo vane chirwere cheLaurence-Moon, tarisiro yeupenyu inowanzopfupisa kune vamwe vanhu. Chikonzero chinonyanya kuwanda chekufa chinosanganiswa nehupombwe kana kuti zvinetso zvepfungwa.
Kune Biedel-Bartet chirwere, kukundikana kwechirwere kunowanzozara uye ndiyo inonyanya kukonzera rufu. Kugadzirisa nyaya dzekunyengera kunogona kuvandudza kutarisira hupenyu uye hupenyu hwehupenyu.
Sources:
"Biedl-Bartet Syndrome". National Organisation for Rare Disorders, 2015.
"Laurence-Moon Syndrome". Patient.Info, 2015.