Chirwere cheGaucher chirwere chisingawanzofanirwa nehutachiwana, zvichiita kuti kuve nezvikamu zvakasiyana-siyana (kunyanya muropa, spleen uye marora marara) emafuta chaiwo. Kwenguva yokutanga chirwere ichi chakaonekwa uye chakatsanangurwa nechiremba wechiFrench Philip Gaucher muna 1882. Akawana masero akajeka kune varwere vane maruva akawedzerwa, umo mairi asina mafuta akawanikwa. Pakupedzisira, masero akadaro akatanga kunzi Gaucher cells, uye chirwere chacho, pamwe chete, Gaucher chirwere.
Dambudziko rekuchengetedza zvirwere
Zvirwere zvinonzi lysosomal (zvirwere zvekuwedzerwa kwe lipids) zita rinowanzopiwa zvirwere zvakasiyana-siyana zvinokonzerwa nekuvhiringidzika kwezvinonzi intracellular cleavage kune zvimwe zvinhu. Pamusana pekukanganisa nekushayikwa kwemamwe enzyme, mamwe marudzi e lipids (somuenzaniso, glycogen, glycosaminoglycans) haaparadzanwi uye haasati adzirwa kubva mumuviri, asi anowedzera mumasero.
Zvirwere zvinouraya hazviwanzoitiki. Saka, inowanikwa kune dzose - Gaucher chirwere, inowanikwa nehuwandu hwehuwandu hwe1: 40000. Izvo zvinowanzopiwa pavhareji nekuti chirwere chacho chinotora maererano nechitarisiko chezvinyorwa zvekare uye mune mamwe madzinza akavharwa zvinogona kuitika kusvika kanomwe kazhinji.
Kurongwa kweGaucher's Disease
Ichi chirwere chinokonzerwa nechiremera mukati megene rinokonzera kushandiswa kwe beta-glucocerebrosidase, iyo enzyme inokurudzira kucheneswa kwemamwe mafuta (glucocerebrosides). Mune vanhu vane chirwere ichi, inyenzi yakakosha haikwani, nokuti mafuta haana kuparadzaniswa, asi kuunganidza mumasero.
Kune mhando mitatu yeGaucher matenda:
- Rudzi rwekutanga. Nzira yakanyanyisa uye inowanzoitika. Iyo inofananidzwa nekuwedzera kusina kurwadza muchero, kuwedzera kwechiropa. Iyo inonzi central nerve system haina kubatwa.
- Rudzi rwechipiri. Kazhinji inowanikwa fomu nehutachiona hwekushaya neuronal. Iyo inowanzozviratidza inowanzo mucheche mucheche uye kakawanda inotungamirira kurufu.
- Rudzi rwechitatu. Juvenile subacute fomu. Anozivikanwa kazhinji pazera remakore maviri kusvika mana. Pane zvipembenene zve hematopoietic system (bone marrow) uye zvishoma nezvishoma chirwere chisina kufanira chemutye wenheyo.
Zviratidzo zveGaucher Disease
Apo chirwere chacho, masero eGaucher zvishoma nezvishoma anowedzera munhengo. Chokutanga kune kuwedzera kwekuwedzera mumhepo, ipapo chiropa, kune marwadzo mumapfupa. Nokufamba kwenguva, kukura kweanemia , thrombocytopenia, kubuda ropa kunokonzerwa kunokwanisika. Pakati pe 2 uye 3 rudzi rwechirwere, uropi uye nervous system sezvakazara zvakagadziriswa. Pachirongwa chechitatu, chimwe chezviratidzo zvinonyanya kufanana nezvekuvhiringidzika kwehurongwa hwemagetsi ndekutyora kwekufamba kweziso.
Kuongororwa kwezvirwere zveGaucher
Chirwere cheGaucher chinogona kuongororwa ne molecule kuongorora glucocerebrosidase gene. Zvisinei, iyi nzira yakanyanya kuoma uye inodhura, saka inoshandiswa kune zvisingawanzoitika, apo kuongororwa kwechirwere kwakaoma. Kazhinji kazhinji, kuongororwa kunoitwa apo mageri Gaucher anowanikwa mumapfupa emapfupa kana kuputika kwepleen panguva yebiopsy. Mifananidzo yemapfupa inogona kushandiswawo kuziva zvirwere zvinokonzerwa nefupa remafuro.
Kurapa kweGaucher Disease
Kusvika iye zvino, nzira chete inobatsira yekurapa chirwere - nzira yekugadzirisa iyo therapy nemaglucerase, chirwere chinoshandisa enzyme inoshaya mumuviri. Inobatsira kuderedza kana kuvhara migumisiro yechipidzo chechigadzirwa, kudzorera zvakakwana metabolism. Kuisa zvinodhaka
Kudyarwa kwemapfupa emasese kana masero ematsipa kunoreva kurapa kwakanyanyisa uye nehuwandu hwevanhu vanofa uye inoshandiswa semukana wokupedzisira kana imwe nzira dzese dzokurapa dzisingabatsiri.